Name

CRTAM Gene

cytotoxic and regulatory T cell molecule

The CRTAM gene is upregulated trong>introng> CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protetrong>introng> with V and C1-like Ig domatrong>introng>s (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]

MZB1 Gene

margtrong>introng>al zone B and B1 cell-specific protetrong>introng>

trong>Introng>volved trong>introng> positive regulation of cell population proliferation. Located trong>introng> cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE12P Gene

speedy/RINGO cell cycle regulator family member E12, pseudogene

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

LOC101060086 Gene

cell cycle exit and neuronal differentiation protetrong>introng> 1-like

CDC27P10 Gene

cell division cycle 27 pseudogene 10

CDC27P11 Gene

cell division cycle 27 pseudogene 11

LOC100420540 Gene

cell division cycle associated 8 pseudogene

BTG4 Gene

B-cell translocation gene 4

The protetrong>introng> encoded by this gene is a member of the BTG/Tob family. This family has structurally related protetrong>introng>s that appear to have antiproliferative properties. This encoded protetrong>introng> can trong>introng>duce G1 arrest trong>introng> the cell cycle. [provided by RefSeq, Jul 2008]

BTG1 Gene

B-cell translocation gene 1, anti-proliferative

This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest trong>introng> the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protetrong>introng> trong>introng>teracts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be trong>introng>volved trong>introng> a t(8;12)(q24;q22) chromosomal translocation trong>introng> a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]

TRAV23DV6 Gene

T cell receptor alpha variable 23/delta variable 6

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

LOC101929185 Gene

putative glyctrong>introng>e-rich cell wall structural protetrong>introng> 1

MEMO1P4 Gene

mediator of cell motility 1 pseudogene 4

MEMO1P2 Gene

mediator of cell motility 1 pseudogene 2

MEMO1P3 Gene

mediator of cell motility 1 pseudogene 3

LOC728613 Gene

programmed cell death 6 pseudogene

MCL1 Gene

myeloid cell leukemia 1

This gene encodes an anti-apoptotic protetrong>introng>, which is a member of the Bcl-2 family. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by trong>introng>hibittrong>introng>g apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-trong>introng>ductrong>introng>g. [provided by RefSeq, Oct 2010]

TRBJ2-4 Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-4

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ2-5 Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-5

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ2-6 Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-6

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ2-7 Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-7

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ2-1 Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-1

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ2-2 Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-2

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ2-3 Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-3

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

CEND1 Gene

cell cycle exit and neuronal differentiation 1

The protetrong>introng> encoded by this gene is a neuron-specific protetrong>introng>. The similar protetrong>introng> trong>introng> pig enhances neuroblastoma cell differentiation trong>introng> vitro and may be trong>introng>volved trong>introng> neuronal differentiation trong>introng> vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]

PCNA Gene

proliferattrong>introng>g cell nuclear antigen

The protetrong>introng> encoded by this gene is found trong>introng> the nucleus and is a cofactor of DNA polymerase delta. The encoded protetrong>introng> acts as a homotrimer and helps trong>trong>introng>creasetrong> the processivity of leadtrong>introng>g strand synthesis durtrong>introng>g DNA replication. trong>Introng> response to DNA damage, this protetrong>introng> is ubiquittrong>introng>ated and is trong>introng>volved trong>introng> the RAD6-dependent DNA repair pathway. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

BOC Gene

BOC cell adhesion associated, oncogene regulated

The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng>/fibronecttrong>introng> type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell trong>introng>teractions between muscle precursor cells, and promotes myogenic differentiation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Sep 2014]

TRBV20-1 Gene

T cell receptor beta variable 20-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100130203 Gene

cell adhesion associated, oncogene regulated pseudogene

CDC34 Gene

cell division cycle 34

The protetrong>introng> encoded by this gene is a member of the ubiquittrong>introng>-conjugattrong>introng>g enzyme family. Ubiquittrong>introng>-conjugattrong>introng>g enzyme catalyzes the covalent attachment of ubiquittrong>introng> to other protetrong>introng>s. This protetrong>introng> is a part of the large multiprotetrong>introng> complex, which is required for ubiquittrong>introng>-mediated degradation of cell cycle G1 regulators, and for the trong>introng>itiation of DNA replication. [provided by RefSeq, Jul 2008]

CDC37 Gene

cell division cycle 37

The protetrong>introng> encoded by this gene is highly similar to Cdc 37, a cell division cycle control protetrong>introng> of Sacchromyces cerevisiae. This protetrong>introng> is a molecular chaperone with specific function trong>introng> cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protetrong>introng> ktrong>introng>ases trong>introng>cludtrong>introng>g CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha ktrong>introng>ases. It is thought to play a critical role trong>introng> directtrong>introng>g Hsp90 to its target ktrong>introng>ases. [provided by RefSeq, Jul 2008]

BCL9 Gene

B-cell CLL/lymphoma 9

BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation trong>introng> B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance trong>introng> B-cell malignancies. [provided by RefSeq, Jul 2008]

BCL5 Gene

B-cell CLL/lymphoma 5

BCL6 Gene

B-cell CLL/lymphoma 6

The protetrong>introng> encoded by this gene is a ztrong>introng>c ftrong>introng>ger transcription factor and contatrong>introng>s an N-termtrong>introng>al POZ domatrong>introng>. This protetrong>introng> acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protetrong>introng> can trong>introng>teract with a variety of POZ-contatrong>introng>trong>introng>g protetrong>introng>s that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated trong>introng> diffuse large-cell lymphoma (DLCL), and may be trong>introng>volved trong>introng> the pathogenesis of DLCL. Alternatively spliced transcript variants encodtrong>introng>g different protetrong>introng> isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

BCL3 Gene

B-cell CLL/lymphoma 3

This gene is a proto-oncogene candidate. It is identified by its translocation trong>introng>to the immunoglobultrong>introng> alpha-locus trong>introng> some cases of B-cell leukemia. The protetrong>introng> encoded by this gene contatrong>introng>s seven ankyrtrong>introng> repeats, which are most closely related to those found trong>introng> I kappa B protetrong>introng>s. This protetrong>introng> functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be trong>introng>duced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]

BCL2 Gene

B-cell CLL/lymphoma 2

This gene encodes an trong>introng>tegral outer mitochondrial membrane protetrong>introng> that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as trong>introng> the case of translocation of BCL2 to Ig heavy chatrong>introng> locus, is thought to be the cause of follicular lymphoma. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2016]

HIRA Gene

histone cell cycle regulator

This gene encodes a histone chaperone that preferentially places the variant histone H3.3 trong>introng> nucleosomes. Orthologs of this gene trong>introng> yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomattrong>introng>. This gene plays an important role trong>introng> the formation of the senescence-associated heterochromattrong>introng> foci. These foci likely mediate the irreversible cell cycle changes that occur trong>introng> senescent cells. It is considered the primary candidate gene trong>introng> some haplotrong>introng>sufficiency syndromes such as DiGeorge syndrome, and trong>introng>sufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]

TRAJ32 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 32

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

INSL3 Gene

trong>introng>sultrong>introng>-like 3 (Leydig cell)

This gene encodes a member of the trong>introng>sultrong>introng>-like hormone superfamily. The encoded protetrong>introng> is matrong>introng>ly produced trong>introng> gonadal tissues. Studies of the mouse counterpart suggest that this gene may be trong>introng>volved trong>introng> the development of urogenital tract and female fertility. This protetrong>introng> may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediattrong>introng>g trong>introng>tra-abdomtrong>introng>al testicular descent. Mutations trong>introng> this gene may lead to cryptorchidism. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2012]

LOC101929818 Gene

killer cell immunoglobultrong>introng>-like receptor 3DL1

KIR3DX1 Gene

killer cell immunoglobultrong>introng>-like receptor, three domatrong>introng>s, X1

Predicted to be trong>introng>volved trong>introng> immune response-regulattrong>introng>g signaltrong>introng>g pathway. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MNDA Gene

myeloid cell nuclear differentiation antigen

The myeloid cell nuclear differentiation antigen (MNDA) is detected only trong>introng> nuclei of cells of the granulocyte-monocyte ltrong>introng>eage. A 200-amtrong>introng>o acid region of human MNDA is striktrong>introng>gly similar to a region trong>introng> the protetrong>introng>s encoded by a family of trong>introng>terferon-trong>introng>ducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated trong>introng> a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contatrong>introng>s an trong>introng>terferon-stimulated response element trong>introng> the 5-prime untranslated region, was significantly upregulated trong>introng> human monocytes exposed to trong>introng>terferon alpha. MNDA is located withtrong>introng> 2,200 kb of FCER1A, APCS, CRP, and SPTA1. trong>Introng> its pattern of expression and/or regulation, MNDA resembles IFI16, suggesttrong>introng>g that these genes participate trong>introng> blood cell-specific responses to trong>introng>terferons. [provided by RefSeq, Jul 2008]

TRGJ2 Gene

T cell receptor gamma jotrong>introng>trong>introng>g 2

TRGJ1 Gene

T cell receptor gamma jotrong>introng>trong>introng>g 1

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRGJP Gene

T cell receptor gamma jotrong>introng>trong>introng>g P

TRBV6-8 Gene

T cell receptor beta variable 6-8

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-9 Gene

T cell receptor beta variable 6-9

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-5 Gene

T cell receptor beta variable 6-5

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-6 Gene

T cell receptor beta variable 6-6

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-7 Gene

T cell receptor beta variable 6-7 (non-functional)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-2 Gene

T cell receptor beta variable 6-2 (gene/pseudogene)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-3 Gene

T cell receptor beta variable 6-3

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PCNAP1 Gene

proliferattrong>introng>g cell nuclear antigen pseudogene 1

PCNAP4 Gene

proliferattrong>introng>g cell nuclear antigen pseudogene 4

TRBC1 Gene

T cell receptor beta constant 1

Predicted to be trong>introng>volved trong>introng> T cell receptor signaltrong>introng>g pathway; adaptive immune response; and alpha-beta T cell activation. Predicted to be located trong>introng> membrane. Predicted to be part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBC2 Gene

T cell receptor beta constant 2

Predicted to be trong>introng>volved trong>introng> T cell receptor signaltrong>introng>g pathway; adaptive immune response; and alpha-beta T cell activation. Part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBV21-1 Gene

T cell receptor beta variable 21-1 (pseudogene)

CDIP1 Gene

cell death-trong>introng>ductrong>introng>g p53 target 1

Predicted to enable ztrong>introng>c ion btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> trong>introng>trtrong>introng>sic apoptotic signaltrong>introng>g pathway trong>introng> response to DNA damage by p53 class mediator. Located trong>introng> cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC100287157 Gene

cell division cycle associated 8 pseudogene

SCRIB Gene

scribbled planar cell polarity protetrong>introng>

This gene encodes a protetrong>introng> that was identified as betrong>introng>g similar to the Drosophila scribble protetrong>introng>. The mammalian protetrong>introng> is trong>introng>volved trong>introng> tumor suppression pathways. As a scaffold protetrong>introng> trong>introng>volved trong>introng> cell polarization processes, this protetrong>introng> btrong>introng>ds to many other protetrong>introng>s. The encoded protetrong>introng> btrong>introng>ds to papillomavirus E6 protetrong>introng> via its PDZ domatrong>introng> and the C-termtrong>introng>us of E6. Two alternatively spliced transcript variants that encode different protetrong>introng> isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

TAGAP Gene

T-cell activation RhoGTPase activattrong>introng>g protetrong>introng>

This gene encodes a member of the Rho GTPase-activator protetrong>introng> superfamily. The encoded protetrong>introng> may function as a Rho GTPase-activattrong>introng>g protetrong>introng>. Alterations trong>introng> this gene may be associated with several diseases, trong>introng>cludtrong>introng>g rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2013]

NRCAM Gene

neuronal cell adhesion molecule

Cell adhesion molecules (CAMs) are members of the immunoglobultrong>introng> superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobultrong>introng>-like C2-type domatrong>introng>s and fibronecttrong>introng> type-III domatrong>introng>s. This ankyrtrong>introng>-btrong>introng>dtrong>introng>g protetrong>introng> is trong>introng>volved trong>introng> neuron-neuron adhesion and promotes directional signaltrong>introng>g durtrong>introng>g axonal cone growth. This gene is also expressed trong>introng> non-neural tissues and may play a general role trong>introng> cell-cell communication via signaltrong>introng>g from its trong>introng>tracellular domatrong>introng> to the acttrong>introng> cytoskeleton durtrong>introng>g directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]

MEMO1P1 Gene

mediator of cell motility 1 pseudogene 1

DEFA6 Gene

defenstrong>introng>, alpha 6, Paneth cell-specific

Defenstrong>introng>s are a family of antimicrobial and cytotoxic peptides thought to be trong>introng>volved trong>introng> host defense. They are abundant trong>introng> the granules of neutrophils and also found trong>introng> the epithelia of mucosal surfaces such as those of the trong>introng>testtrong>introng>e, respiratory tract, urtrong>introng>ary tract, and vagtrong>introng>a. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence and disttrong>introng>guished by a conserved cystetrong>introng>e motif. Several alpha defenstrong>introng> genes appear to be clustered on chromosome 8. The protetrong>introng> encoded by this gene, defenstrong>introng>, alpha 6, is highly expressed trong>introng> the secretory granules of Paneth cells of the small trong>introng>testtrong>introng>e, and likely plays a role trong>introng> host defense of human bowel. [provided by RefSeq, Oct 2014]

DEFA5 Gene

defenstrong>introng>, alpha 5, Paneth cell-specific

Defenstrong>introng>s are a family of antimicrobial and cytotoxic peptides thought to be trong>introng>volved trong>introng> host defense. They are abundant trong>introng> the granules of neutrophils and also found trong>introng> the epithelia of mucosal surfaces such as those of the trong>introng>testtrong>introng>e, respiratory tract, urtrong>introng>ary tract, and vagtrong>introng>a. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence and disttrong>introng>guished by a conserved cystetrong>introng>e motif. Several of the alpha defenstrong>introng> genes appear to be clustered on chromosome 8. The protetrong>introng> encoded by this gene, defenstrong>introng>, alpha 5, is highly expressed trong>introng> the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]

TRBV23OR9-2 Gene

T cell receptor beta variable 23/OR9-2 (non-functional)

PDCD1LG2 Gene

programmed cell death 1 ligand 2

trong>Introng>volved trong>introng> negative regulation of activated T cell proliferation; negative regulation of trong>introng>terleuktrong>introng>-10 production; and negative regulation of type II trong>introng>terferon production. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> external side of plasma membrane. Biomarker of pulmonary tuberculosis. [provided by Alliance of Genome Resources, Mar 2025]

DRAIC Gene

downregulated RNA trong>introng> cancer, trong>introng>hibitor of cell trong>introng>vasion and migration

TRBV30 Gene

T cell receptor beta variable 30 (gene/pseudogene)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TCTA Gene

T-cell leukemia translocation altered

trong>Introng>volved trong>introng> negative regulation of osteoclast differentiation and osteoclast fusion. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]

DELYQ11 Gene

Sertoli cell-only syndrome, Y-ltrong>introng>ked

LOC100422623 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotetrong>introng>) pseudogene

ZYG11B Gene

zyg-11 family member B, cell cycle regulator

trong>Introng>volved trong>introng> positive regulation of proteasomal ubiquittrong>introng>-dependent protetrong>introng> catabolic process and protetrong>introng> quality control for misfolded or trong>introng>completely synthesized protetrong>introng>s. Part of Cul2-RING ubiquittrong>introng> ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

ZYG11A Gene

zyg-11 family member A, cell cycle regulator

Predicted to be part of Cul2-RING ubiquittrong>introng> ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBV3-1 Gene

T cell receptor beta variable 3-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-9 Gene

T cell receptor beta variable 7-9

Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-8 Gene

T cell receptor beta variable 7-8

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-1 Gene

T cell receptor beta variable 7-1 (non-functional)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-3 Gene

T cell receptor beta variable 7-3

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-2 Gene

T cell receptor beta variable 7-2

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-5 Gene

T cell receptor beta variable 7-5 (pseudogene)

TRBV7-4 Gene

T cell receptor beta variable 7-4 (gene/pseudogene)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-7 Gene

T cell receptor beta variable 7-7

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV7-6 Gene

T cell receptor beta variable 7-6

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

HK3 Gene

hexoktrong>introng>ase 3 (white cell)

Hexoktrong>introng>ases phosphorylate glucose to produce glucose-6-phosphate, the first step trong>introng> most glucose metabolism pathways. This gene encodes hexoktrong>introng>ase 3. Similar to hexoktrong>introng>ases 1 and 2, this allosteric enzyme is trong>introng>hibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]

CWH43 Gene

cell wall biogenesis 43 C-termtrong>introng>al homolog (S. cerevisiae)

Predicted to be trong>introng>volved trong>introng> GPI anchor biosynthetic process. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g cerebrosptrong>introng>al fluid circulation; establishment of protetrong>introng> localization; and protetrong>introng> N-ltrong>introng>ked glycosylation. Predicted to be located trong>introng> extracellular region and membrane. Predicted to be active trong>introng> endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

MTCP1 Gene

mature T-cell proliferation 1

This gene was identified by trong>introng>volvement trong>introng> some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different protetrong>introng>s. This gene represents the upstream 13 kDa protetrong>introng> that is a member of the TCL1 family. This protetrong>introng> may be trong>introng>volved trong>introng> leukemogenesis. [provided by RefSeq, Mar 2009]

CDCA2 Gene

cell division cycle associated 2

This gene encodes a targettrong>introng>g subunit of the cell-cycle associated protetrong>introng>, protetrong>introng> phosphatase 1, with a role trong>introng> targettrong>introng>g this protetrong>introng> to chromattrong>introng> durtrong>introng>g anaphase. These two protetrong>introng>s comprise a phosphatase complex that is trong>introng>volved trong>introng> nuclear envelope reformation and regulation of the DNA damage response. The encoded protetrong>introng> may also play a role trong>introng> cancer progression. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2015]

CDCA3 Gene

cell division cycle associated 3

Predicted to be trong>introng>volved trong>introng> cell division and protetrong>introng> ubiquittrong>introng>ation. Located trong>introng> adherens junction. [provided by Alliance of Genome Resources, Mar 2025]

CDCA7 Gene

cell division cycle associated 7

This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesttrong>introng>g its trong>introng>volvement trong>introng> c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]

CDCA4 Gene

cell division cycle associated 4

This gene encodes a protetrong>introng> that belongs to the E2F family of transcription factors. This protetrong>introng> regulates E2F-dependent transcriptional activation and cell proliferation, matrong>introng>ly through the E2F/rettrong>introng>oblastoma protetrong>introng> pathway. It also functions trong>introng> the regulation of JUN oncogene expression. This protetrong>introng> shows disttrong>introng>ctive nuclear-mitotic apparatus distribution, it is trong>introng>volved trong>introng> sptrong>introng>dle organization from prometaphase, and may also play a role as a midzone factor trong>introng>volved trong>introng> chromosome segregation or cytoktrong>introng>esis. Two alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]

CDCA5 Gene

cell division cycle associated 5

Predicted to enable chromattrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> chromosome organization; double-strand break repair; and positive regulation of exit from mitosis. Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CDCA8 Gene

cell division cycle associated 8

This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protetrong>introng> is cell-cycle regulated and is required for chromattrong>introng>-trong>introng>duced microtubule stabilization and sptrong>introng>dle formation. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]

MUC4 Gene

muctrong>introng> 4, cell surface associated

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those trong>introng> the trachea, colon, and cervix, are highly glycosylated protetrong>introng>s called muctrong>introng>s. These glycoprotetrong>introng>s play important roles trong>introng> the protection of the epithelial cells and have been implicated trong>introng> epithelial renewal and differentiation. This gene encodes an trong>introng>tegral membrane glycoprotetrong>introng> found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determtrong>introng>ed or they are found only trong>introng> tumor tissues. This gene contatrong>introng>s a region trong>introng> the codtrong>introng>g sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

NKS1 Gene

natural killer cell susceptibility 1

CEMIP Gene

cell migration trong>introng>ductrong>introng>g protetrong>introng>, hyaluronan btrong>introng>dtrong>introng>g

Enables several functions, trong>introng>cludtrong>introng>g clathrtrong>introng> heavy chatrong>introng> btrong>introng>dtrong>introng>g activity; hyaluronic acid btrong>introng>dtrong>introng>g activity; and hyalurononglucosamtrong>introng>idase activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g hyaluronan catabolic process; positive regulation of protetrong>introng> phosphorylation; and positive regulation of protetrong>introng> targettrong>introng>g to membrane. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g clathrtrong>introng>-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

EPCAM Gene

epithelial cell adhesion molecule

This gene encodes a carctrong>introng>oma-associated antigen and is a member of a family that trong>introng>cludes at least two type I membrane protetrong>introng>s. This antigen is expressed on most normal epithelial cells and gastrotrong>introng>testtrong>introng>al carctrong>introng>omas and functions as a homotypic calcium-trong>introng>dependent cell adhesion molecule. The antigen is betrong>introng>g used as a target for immunotherapy treatment of human carctrong>introng>omas. Mutations trong>introng> this gene result trong>introng> congenital tufttrong>introng>g enteropathy. [provided by RefSeq, Dec 2008]

TRAJ29 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 29

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ28 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 28

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ27 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 27

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ26 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 26

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ25 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 25 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ24 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 24

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ23 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 23

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ22 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 22

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ21 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 21

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ20 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 20

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV5 Gene

T cell receptor alpha variable 5

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

RGCC Gene

regulator of cell cycle

This gene is thought to regulate cell cycle progression. It is trong>introng>duced by p53 trong>introng> response to DNA damage, or by sublytic levels of complement system protetrong>introng>s that result trong>introng> activation of the cell cycle. The encoded protetrong>introng> localizes to the cytoplasm durtrong>introng>g trong>introng>terphase and to centrosomes durtrong>introng>g mitosis. The protetrong>introng> forms a complex with polo-like ktrong>introng>ase 1. The protetrong>introng> also translocates to the nucleus trong>introng> response to treatment with complement system protetrong>introng>s, and can associate with and trong>trong>introng>creasetrong> the ktrong>introng>ase activity of cell division cycle 2 protetrong>introng>. trong>Introng> different assays and cell types, overexpression of this protetrong>introng> has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]

TCL6 Gene

T-cell leukemia/lymphoma 6 (non-protetrong>introng> codtrong>introng>g)

TCL4 Gene

T-cell leukemia/lymphoma 4

HMCES Gene

5-hydroxymethylcytostrong>introng>e (hmC) btrong>introng>dtrong>introng>g, ES cell-specific

Enables DNA-(abasic site) btrong>introng>dtrong>introng>g activity; protetrong>introng>-DNA covalent cross-ltrong>introng>ktrong>introng>g activity; and strong>introng>gle-stranded DNA btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> trong>introng>terstrand cross-ltrong>introng>k repair; protetrong>introng>-DNA covalent cross-ltrong>introng>ktrong>introng>g repair; and somatic hypermutation of immunoglobultrong>introng> genes. Is active trong>introng> replication fork. [provided by Alliance of Genome Resources, Mar 2025]

HCFC1R1 Gene

host cell factor C1 regulator 1 (XPO1 dependent)

Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TRAV29DV5 Gene

T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

MUC17 Gene

muctrong>introng> 17, cell surface associated

The protetrong>introng> encoded by this gene is a membrane-bound muctrong>introng> that provides protection to gut epithelial cells. The encoded protetrong>introng> contatrong>introng>s about 60 tandem repeats, with each repeat betrong>introng>g around 60 aa. N-glycosylation enables the encoded protetrong>introng> to localize on the cell surface, while the C-termtrong>introng>us trong>introng>teracts with the scaffold protetrong>introng> PDZ domatrong>introng> contatrong>introng>trong>introng>g 1 (PDZK1). Two transcript variants, one protetrong>introng>-codtrong>introng>g and the other non-protetrong>introng> codtrong>introng>g, have been found for this gene. [provided by RefSeq, Nov 2015]

MUC16 Gene

muctrong>introng> 16, cell surface associated

This gene encodes a protetrong>introng> that is a member of the muctrong>introng> family. Muctrong>introng>s are high molecular weight, O-glycosylated protetrong>introng>s that play an important role trong>introng> formtrong>introng>g a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protetrong>introng> is a membrane-tethered muctrong>introng> that contatrong>introng>s an extracellular domatrong>introng> at its amtrong>introng>o termtrong>introng>us, a large tandem repeat domatrong>introng>, and a transmembrane domatrong>introng> with a short cytoplasmic domatrong>introng>. The amtrong>introng>o termtrong>introng>us is highly glycosylated, while the repeat region contatrong>introng>s 156 amtrong>introng>o acid repeats unit that are rich trong>introng> sertrong>introng>es, threontrong>introng>es, and proltrong>introng>es. trong>Introng>terspersed withtrong>introng> the repeats are Sea urchtrong>introng> sperm protetrong>introng> Enteroktrong>introng>ase and Agrtrong>introng> (SEA) modules, leuctrong>introng>e-rich repeats and ankyrtrong>introng> (ANK) repeats. These regions together form the ectodomatrong>introng>, and there is a potential cleavage site found near an SEA module close to the transmembrane domatrong>introng>. This protetrong>introng> is thought to play a role trong>introng> formtrong>introng>g a barrier, protecttrong>introng>g epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]

MUC15 Gene

muctrong>introng> 15, cell surface associated

Predicted to be located trong>introng> Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MUC13 Gene

muctrong>introng> 13, cell surface associated

Epithelial muctrong>introng>s, such as MUC13, are a family of secreted and cell surface glycoprotetrong>introng>s expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

MUC12 Gene

muctrong>introng> 12, cell surface associated

This gene encodes an trong>introng>tegral membrane glycoprotetrong>introng> that is a member of the muctrong>introng> family. Muctrong>introng>s are O-glycosylated protetrong>introng>s that play an essential role trong>introng> formtrong>introng>g protective mucous barriers on epithelial surfaces and have been implicated trong>introng> epithelial renewal and differentiation. These glycoprotetrong>introng>s also play a role trong>introng> trong>introng>tracellular signaltrong>introng>g. This protetrong>introng> is expressed on the apical membrane surface of epithelial cells that ltrong>introng>e the mucosal surfaces of many different tissues trong>introng>cludtrong>introng>g the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated trong>introng> colorectal cancer tissue. [provided by RefSeq, Apr 2017]

HCC Gene

thyroid carctrong>introng>oma, Hurthle cell

NEDD8 Gene

neural precursor cell expressed, developmentally down-regulated 8

Enables ubiquittrong>introng> protetrong>introng> ligase btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> protetrong>introng> neddylation. Located trong>introng> cytosol and nucleoplasm. Biomarker of Parktrong>introng>son's disease and malignant astrocytoma. [provided by Alliance of Genome Resources, Mar 2025]

NEDD9 Gene

neural precursor cell expressed, developmentally down-regulated 9

The protetrong>introng> encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docktrong>introng>g molecules that mediate protetrong>introng>-protetrong>introng> trong>introng>teractions for signal transduction pathways. This protetrong>introng> is a focal adhesion protetrong>introng> that acts as a scaffold to regulate signaltrong>introng>g complexes important trong>introng> cell attachment, migration and trong>introng>vasion as well as apoptosis and the cell cycle. This protetrong>introng> has also been reported to have a role trong>introng> cancer metastasis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2012]

NEDD1 Gene

neural precursor cell expressed, developmentally down-regulated 1

Predicted to enable gamma-tubultrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule nucleation and mitotic cell cycle. Located trong>introng> centrosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]

HCLS1 Gene

hematopoietic cell-specific Lyn substrate 1

Enables RNA polymerase II-specific DNA-btrong>introng>dtrong>introng>g transcription factor btrong>introng>dtrong>introng>g activity; protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity; and signaltrong>introng>g adaptor activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g granulocyte colony-stimulattrong>introng>g factor signaltrong>introng>g pathway; positive regulation of macromolecule metabolic process; and positive regulation of phosphatidyltrong>introng>ositol 3-ktrong>introng>ase/protetrong>introng> ktrong>introng>ase B signal transduction. Located trong>introng> cytosol; nucleus; and plasma membrane. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Mar 2025]

ERICD Gene

E2F1-regulated trong>introng>hibitor of cell death (non-protetrong>introng> codtrong>introng>g)

TRGV5P Gene

T cell receptor gamma variable 5P (pseudogene)

PARD3 Gene

par-3 family cell polarity regulator

This gene encodes a member of the PARD protetrong>introng> family. PARD family members trong>introng>teract with other PARD family members and other protetrong>introng>s; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

LOC100132330 Gene

mal, T-cell differentiation protetrong>introng>-like pseudogene

CD244 Gene

CD244 molecule, natural killer cell receptor 2B4

This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killtrong>introng>g. The trong>introng>teraction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

CPA3 Gene

carboxypeptidase A3 (mast cell)

This gene encodes a member of the carboxypeptidase A family of ztrong>introng>c metalloproteases. The encoded preproprotetrong>introng> is proteolytically processed to generate a mature protease that is released by mast cells and may be trong>introng>volved trong>introng> the degradation of endogenous protetrong>introng>s and the trong>introng>activation of venom-associated peptides. Expression of this gene may be elevated trong>introng> human asthma patients. [provided by RefSeq, Nov 2015]

LIMS3L Gene

LIM and senescent cell antigen-like domatrong>introng>s 3-like

Predicted to enable metal ion btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV10 Gene

T cell receptor gamma variable 10 (non-functional)

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporttrong>introng>g, lysosomal V0 subunit A3

This gene encodes a subunit of a large protetrong>introng> complex known as a vacuolar H+-ATPase (V-ATPase). The protetrong>introng> complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surroundtrong>introng>g environment. V-ATPase dependent organelle acidification is necessary for such trong>introng>tracellular processes as protetrong>introng> sorttrong>introng>g, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domatrong>introng> and a transmembrane V0 domatrong>introng>. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Mutations trong>introng> this gene are associated with trong>introng>fantile malignant osteopetrosis. [provided by RefSeq, May 2017]

FRAT1 Gene

frequently rearranged trong>introng> advanced T-cell lymphomas 1

The protetrong>introng> encoded by this gene belongs to the GSK-3-btrong>introng>dtrong>introng>g protetrong>introng> family. The protetrong>introng> trong>introng>hibits GSK-3-mediated phosphorylation of beta-catentrong>introng> and positively regulates the Wnt signaltrong>introng>g pathway. It may function trong>introng> tumor progression and trong>introng> lymphomagenesis. [provided by RefSeq, Oct 2008]

FRAT2 Gene

frequently rearranged trong>introng> advanced T-cell lymphomas 2

The protetrong>introng> encoded by this trong>introng>tronless gene belongs to the GSK-3-btrong>introng>dtrong>introng>g protetrong>introng> family. Studies show that this protetrong>introng> plays a role as a positive regulator of the WNT signaltrong>introng>g pathway. It may be upregulated trong>introng> tumor progression. [provided by RefSeq, Jul 2008]

LOC105379645 Gene

killer cell immunoglobultrong>introng>-like receptor 2DL2

SDF2L1 Gene

stromal cell-derived factor 2-like 1

Enables misfolded protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> chaperone cofactor-dependent protetrong>introng> refoldtrong>introng>g. Located trong>introng> endoplasmic reticulum. Part of protetrong>introng> foldtrong>introng>g chaperone complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC101060051 Gene

vegetative cell wall protetrong>introng> gp1-like

BCC5 Gene

Basal cell carctrong>introng>oma, susceptibility to, 5

TRBV21OR9-2 Gene

T cell receptor beta variable 21/OR9-2 (pseudogene)

LOC105378167 Gene

vegetative cell wall protetrong>introng> gp1-like

MCAM Gene

melanoma cell adhesion molecule

trong>Introng>volved trong>introng> glomerular filtration and vascular wound healtrong>introng>g. Acts upstream of or withtrong>introng> angiogenesis. Located trong>introng> external side of plasma membrane. Biomarker of chronic obstructive pulmonary disease and uveal melanoma. [provided by Alliance of Genome Resources, Mar 2025]

KLRG1 Gene

killer cell lecttrong>introng>-like receptor subfamily G, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protetrong>introng> encoded by this gene belongs to the killer cell lecttrong>introng>-like receptor (KLR) family, which is a group of transmembrane protetrong>introng>s preferentially expressed trong>introng> NK cells. Studies trong>introng> mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]

MCTS1 Gene

malignant T cell amplified sequence 1

Enables RNA cap btrong>introng>dtrong>introng>g activity; ribosomal small subunit btrong>introng>dtrong>introng>g activity; and translation factor activity, non-nucleic acid btrong>introng>dtrong>introng>g. trong>Introng>volved trong>introng> IRES-dependent viral translational trong>introng>itiation; cytoplasmic translational trong>introng>itiation; and ribosome disassembly. Is active trong>introng> cytoplasm. Implicated trong>introng> primary immunodeficiency disease. [provided by Alliance of Genome Resources, Mar 2025]

CCAR1 Gene

cell division cycle and apoptosis regulator 1

Enables RNA polymerase II cis-regulatory region sequence-specific DNA btrong>introng>dtrong>introng>g activity; nuclear receptor coactivator activity; and transcription corepressor activity. trong>Introng>volved trong>introng> positive regulation of cell migration and positive regulation of cell population proliferation. Acts upstream of or withtrong>introng> positive regulation of apoptotic process. Located trong>introng> nuclear envelope lumen. [provided by Alliance of Genome Resources, Mar 2025]

CCAR2 Gene

cell cycle and apoptosis regulator 2

Enables RNA polymerase II complex btrong>introng>dtrong>introng>g activity and enzyme trong>introng>hibitor activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g mitochondrial fragmentation trong>introng>volved trong>introng> apoptotic process; regulation of primary metabolic process; and regulation of signal transduction. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g mitochondrial matrix; nucleoplasm; and sptrong>introng>dle. Part of DBIRD complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC100132609 Gene

programmed cell death 2 pseudogene

METRN Gene

meteortrong>introng>, glial cell differentiation regulator

Meteortrong>introng> regulates glial cell differentiation and promotes the formation of axonal networks durtrong>introng>g neurogenesis (Nishtrong>introng>o et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]

PCP4 Gene

Purktrong>introng>je cell protetrong>introng> 4

Enables calcium ion btrong>introng>dtrong>introng>g activity and calmodultrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> positive regulation of CAMKK-AMPK signaltrong>introng>g cascade and positive regulation of neuron differentiation. Located trong>introng> cytosol and nucleus. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. Biomarker of Hunttrong>introng>gton's disease and leiomyoma. [provided by Alliance of Genome Resources, Mar 2025]

PCP2 Gene

Purktrong>introng>je cell protetrong>introng> 2

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream of or withtrong>introng> G protetrong>introng>-coupled opstrong>introng> signaltrong>introng>g pathway. Predicted to be located trong>introng> neuronal cell body. [provided by Alliance of Genome Resources, Mar 2025]

CTAGE1 Gene

cutaneous T-cell lymphoma-associated antigen 1

Predicted to be trong>introng>volved trong>introng> endoplasmic reticulum to Golgi vesicle-mediated transport; protetrong>introng> secretion; and vesicle cargo loadtrong>introng>g. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

GMCL1P1 Gene

germ cell-less, spermatogenesis associated 1 pseudogene 1

This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its strong>introng>gle-exon nature, this chromosome 5 locus contatrong>introng>s an open readtrong>introng>g frame that could putatively encode a full-length germ cell-less related protetrong>introng>. [provided by RefSeq, Jul 2008]

GMCL1P2 Gene

germ cell-less, spermatogenesis associated 1 pseudogene 2

TRAV14DV4 Gene

T cell receptor alpha variable 14/delta variable 4

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

KLRG2 Gene

killer cell lecttrong>introng>-like receptor subfamily G, member 2

Predicted to enable carbohydrate btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]

SCLC1 Gene

small cell cancer of the lung

KLRB1 Gene

killer cell lecttrong>introng>-like receptor subfamily B, member 1

Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytoktrong>introng>es after immune stimulation. Several genes of the C-type lecttrong>introng> superfamily, trong>introng>cludtrong>introng>g the rodent NKRP1 family of glycoprotetrong>introng>s, are expressed by NK cells and may be trong>introng>volved trong>introng> the regulation of NK cell function. The KLRB1 protetrong>introng> contatrong>introng>s an extracellular domatrong>introng> with several motifs characteristic of C-type lecttrong>introng>s, a transmembrane domatrong>introng>, and a cytoplasmic domatrong>introng>. The KLRB1 protetrong>introng> is classified as a type II membrane protetrong>introng> because it has an external C termtrong>introng>us. [provided by RefSeq, Jul 2008]

CLLS2 Gene

Disrupted trong>introng> B-cell neoplasia

MGCT Gene

male germ cell tumor

TRBD1 Gene

T cell receptor beta diversity 1

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC105379650 Gene

killer cell immunoglobultrong>introng>-like receptor 2DS1

LOC101927245 Gene

vegetative cell wall protetrong>introng> gp1-like

CIDECP Gene

cell death-trong>introng>ductrong>introng>g DFFA-like effector c pseudogene

CDC20B Gene

cell division cycle 20B

Predicted to enable anaphase-promottrong>introng>g complex btrong>introng>dtrong>introng>g activity and ubiquittrong>introng> ligase activator activity. trong>Introng>volved trong>introng> de novo centriole assembly. Located trong>introng> deuterosome. [provided by Alliance of Genome Resources, Mar 2025]

BCC6 Gene

Basal cell carctrong>introng>oma, susceptibility to, 6

VANGL1 Gene

VANGL planar cell polarity protetrong>introng> 1

This gene encodes a member of the tretraspantrong>introng> family. The encoded protetrong>introng> may be trong>introng>volved trong>introng> mediattrong>introng>g trong>introng>testtrong>introng>al trefoil factor trong>introng>duced wound healtrong>introng>g trong>introng> the trong>introng>testtrong>introng>al mucosa. Mutations trong>introng> this gene are associated with neural tube defects. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2010]

TRAJ16 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 16

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ17 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 17

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ14 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 14

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ15 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 15

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ12 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 12

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ13 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 13

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ10 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 10

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ11 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 11

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ18 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 18

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ19 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 19 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

BCL6B Gene

B-cell CLL/lymphoma 6, member B

Enables sequence-specific double-stranded DNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of transcription by RNA polymerase II; regulation of cytoktrong>introng>e production; and regulation of immune system process. Predicted to be located trong>introng> nucleus. Predicted to be active trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SWAP70 Gene

SWAP switchtrong>introng>g B-cell complex 70kDa subunit

Enables cadhertrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of small GTPase mediated signal transduction. Predicted to act upstream of or withtrong>introng> isotype switchtrong>introng>g. Located trong>introng> acttrong>introng> cytoskeleton; cytoplasm; and plasma membrane. Is active trong>introng> postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

CDC5L Gene

cell division cycle 5-like

The protetrong>introng> encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protetrong>introng> has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contatrong>introng>s at least five additional protetrong>introng> factors and is required for the second catalytic step of pre-mRNA splictrong>introng>g. [provided by RefSeq, Jul 2008]

KIR2DS5 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, short cytoplasmic tail, 5

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer cell immunoglobultrong>introng>-like receptor, three domatrong>introng>s, pseudogene

KIR2DS2 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, short cytoplasmic tail, 2

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protetrong>introng> with a short cytoplasmic tail. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2014]

LOC105378775 Gene

cell death regulator Aven-like

SPDYE10P Gene

speedy/RINGO cell cycle regulator family member E10, pseudogene

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ2-2P Gene

T cell receptor beta jotrong>introng>trong>introng>g 2-2P (non-functional)

FDCSP Gene

follicular dendritic cell secreted protetrong>introng>

This gene encodes a small secreted protetrong>introng> that is expressed trong>introng> follicular dendritic cells. This protetrong>introng> specifically btrong>introng>ds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promottrong>introng>g cancer cell migration and trong>introng>vasion. [provided by RefSeq, Dec 2011]

TRBV11-3 Gene

T cell receptor beta variable 11-3

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV11-1 Gene

T cell receptor beta variable 11-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

EBF4 Gene

early B-cell factor 4

EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles trong>introng> neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]

EBF3 Gene

early B-cell factor 3

This gene encodes a member of the early B-cell factor (EBF) family of DNA btrong>introng>dtrong>introng>g transcription factors. EBF protetrong>introng>s are trong>introng>volved trong>introng> B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protetrong>introng> trong>introng>hibits cell survival through the regulation of genes trong>introng>volved trong>introng> cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role trong>introng> multiple malignancies trong>introng>cludtrong>introng>g glioblastoma multiforme and gastric carctrong>introng>oma. [provided by RefSeq, Sep 2011]

EBF2 Gene

early B-cell factor 2

The protetrong>introng> encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA btrong>introng>dtrong>introng>g domatrong>introng>. The COE family protetrong>introng>s play an important role trong>introng> variety of developmental processes. Studies trong>introng> mouse suggest that this gene may be trong>introng>volved trong>introng> the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]

EBF1 Gene

early B-cell factor 1

Predicted to enable DNA-btrong>introng>dtrong>introng>g transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or withtrong>introng> positive regulation of DNA-templated transcription. Predicted to be located trong>introng> chromattrong>introng>. [provided by Alliance of Genome Resources, Mar 2025]

CGRRF1 Gene

cell growth regulator with rtrong>introng>g ftrong>introng>ger domatrong>introng> 1

Predicted to enable metal ion btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of cell growth. Located trong>introng> endoplasmic reticulum and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

GLYCAM1 Gene

glycosylation dependent cell adhesion molecule 1 (pseudogene)

Predicted to enable cell adhesion molecule btrong>introng>dtrong>introng>g activity and sulfate btrong>introng>dtrong>introng>g activity. Predicted to act upstream of or withtrong>introng> response to bacterium. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

PP13 Gene

vegetative cell wall protetrong>introng> gp1

TRAV20 Gene

T cell receptor alpha variable 20

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

CDCA7L Gene

cell division cycle associated 7-like

Acts upstream of or withtrong>introng> positive regulation of cell population proliferation. Located trong>introng> cytosol; fibrillar center; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TIGIT Gene

T cell immunoreceptor with Ig and ITIM domatrong>introng>s

This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobtrong>introng> protetrong>introng>s. The product of this gene is expressed on several classes of T cells trong>introng>cludtrong>introng>g follicular B helper T cells (TFH). The protetrong>introng> has been shown to btrong>introng>d PVR with high afftrong>introng>ity; this btrong>introng>dtrong>introng>g is thought to assist trong>introng>teractions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protetrong>introng>

This gene encodes a member of the gemtrong>introng>trong>introng> family of protetrong>introng>s. The encoded nuclear protetrong>introng> is required for the generation of multiciliated cells trong>introng> respiratory epithelium. Mutations trong>introng> this gene cause a rare mucociliary clearance disorder associated with recurrtrong>introng>g respiratory trong>introng>fections trong>introng> human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

NCR3LG1 Gene

natural killer cell cytotoxicity receptor 3 ligand 1

B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. trong>Introng>teraction of B7H6 with NKp30 (NCR3; MIM 611550) results trong>introng> natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]

KIR3DL1 Gene

killer cell immunoglobultrong>introng>-like receptor, three domatrong>introng>s, long cytoplasmic tail, 1

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR3DL2 Gene

killer cell immunoglobultrong>introng>-like receptor, three domatrong>introng>s, long cytoplasmic tail, 2

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer cell immunoglobultrong>introng>-like receptor, three domatrong>introng>s, long cytoplasmic tail, 3

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

MEMO1 Gene

mediator of cell motility 1

trong>Introng>volved trong>introng> regulation of microtubule-based process. Located trong>introng> cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

BLID Gene

BH3-like motif contatrong>introng>trong>introng>g, cell death trong>introng>ducer

This gene encodes a BH3-like motif contatrong>introng>trong>introng>g protetrong>introng> trong>introng>volved trong>introng> cell death. The encoded protetrong>introng> may trong>introng>duce apoptosis trong>introng> a caspase-dependent manner. The protetrong>introng> is localized trong>introng> both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]

ESAM Gene

endothelial cell adhesion molecule

Enables cell-cell adhesion mediator activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g bicellular tight junction assembly; cell-cell adhesion; and regulation of acttrong>introng> filament polymerization. Located trong>introng> cell-cell junction and plasma membrane. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBV24-1 Gene

T cell receptor beta variable 24-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

BANK1 Gene

B-cell scaffold protetrong>introng> with ankyrtrong>introng> repeats 1

The protetrong>introng> encoded by this gene is a B-cell-specific scaffold protetrong>introng> that functions trong>introng> B-cell receptor-trong>introng>duced calcium mobilization from trong>introng>tracellular stores. This protetrong>introng> can also promote Lyn-mediated tyrostrong>introng>e phosphorylation of trong>introng>ositol 1,4,5-trisphosphate receptors. Polymorphisms trong>introng> this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]

FUZ Gene

fuzzy planar cell polarity protetrong>introng>

This gene encodes a planar cell polarity protetrong>introng> that is trong>introng>volved trong>introng> ciliogenesis and directional cell movement. Knockout studies trong>introng> mice exhibit neural tube defects and defective cilia, and mutations trong>introng> this gene are associated with neural tube defects trong>introng> humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]

CEACAM19 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 19

Predicted to be trong>introng>volved trong>introng> heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cell surface. [provided by Alliance of Genome Resources, Mar 2025]

CEACAM18 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 18

CEACAM16 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 16

The protetrong>introng> encoded by this gene is a secreted glycoprotetrong>introng> that trong>introng> mouse trong>introng>teracts with tectorial membrane protetrong>introng>s trong>introng> the trong>introng>ner ear. The encoded adhesion protetrong>introng> is found trong>introng> cochlear outer hair cells and appears to be important for proper heartrong>introng>g over an extended frequency range. Defects trong>introng> this gene likely are a cause of non-syndromic autosomal domtrong>introng>ant heartrong>introng>g loss. [provided by RefSeq, May 2012]

CIDEC Gene

cell death-trong>introng>ductrong>introng>g DFFA-like effector c

This gene encodes a member of the cell death-trong>introng>ductrong>introng>g DNA fragmentation factor-like effector family. Members of this family play important roles trong>introng> apoptosis. The encoded protetrong>introng> promotes lipid droplet formation trong>introng> adipocytes and may mediate adipocyte apoptosis. This gene is regulated by trong>introng>sultrong>introng> and its expression is positively correlated with trong>introng>sultrong>introng> sensitivity. Mutations trong>introng> this gene may contribute to trong>introng>sultrong>introng> resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

CIDEA Gene

cell death-trong>introng>ductrong>introng>g DFFA-like effector a

This gene encodes the homolog of the mouse protetrong>introng> Cidea that has been shown to activate apoptosis. This activation of apoptosis is trong>introng>hibited by the DNA fragmentation factor DFF45 but not by caspase trong>introng>hibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis trong>introng> brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-trong>introng>duced obesity and diabetes. This suggests that trong>introng> mice this gene product plays a role trong>introng> thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]

CDC42P5 Gene

cell division cycle 42 pseudogene 5

LOC105372844 Gene

vegetative cell wall protetrong>introng> gp1-like

PBXIP1 Gene

pre-B-cell leukemia homeobox trong>introng>teracttrong>introng>g protetrong>introng> 1

The protetrong>introng> encoded by this gene trong>introng>teracts with the PBX1 homeodomatrong>introng> protetrong>introng>, trong>introng>hibittrong>introng>g its transcriptional activation potential by preventtrong>introng>g its btrong>introng>dtrong>introng>g to DNA. The encoded protetrong>introng>, which is primarily cytosolic but can shuttle to the nucleus, also can trong>introng>teract with estrogen receptors alpha and beta and promote the proliferation of breast cancer, bratrong>introng> tumors, and lung cancer. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determtrong>introng>ed. [provided by RefSeq, Dec 2015]

PDCD6 Gene

programmed cell death 6

This gene encodes a calcium-btrong>introng>dtrong>introng>g protetrong>introng> belongtrong>introng>g to the penta-EF-hand protetrong>introng> family. Calcium btrong>introng>dtrong>introng>g is important for homodimerization and for conformational changes required for btrong>introng>dtrong>introng>g to other protetrong>introng> partners. This gene product participates trong>introng> T cell receptor-, Fas-, and glucocorticoid-trong>introng>duced programmed cell death. trong>Introng> mice deficient for this gene product, however, apoptosis was not blocked suggesttrong>introng>g this gene product is functionally redundant. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]

PDCD7 Gene

programmed cell death 7

This gene encodes a 59 kDa protetrong>introng> that is associated with the U11 small nuclear ribonucleoprotetrong>introng> (snRNP), which is a component of the mtrong>introng>or U12-type spliceosome responsible for catalyztrong>introng>g pre-mRNA splictrong>introng>g of U12-type trong>introng>trons. [provided by RefSeq, Dec 2010]

PDCD4 Gene

programmed cell death 4 (neoplastic transformation trong>introng>hibitor)

This gene is a tumor suppressor and encodes a protetrong>introng> that btrong>introng>ds to the eukaryotic translation trong>introng>itiation factor 4A1 and trong>introng>hibits its function by preventtrong>introng>g RNA btrong>introng>dtrong>introng>g. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2010]

PDCD5 Gene

programmed cell death 5

This gene encodes a protetrong>introng> that is upregulated durtrong>introng>g apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protetrong>introng> may be an important regulator of K(lystrong>introng>e) acetyltransferase 5 (a protetrong>introng> trong>introng>volved trong>introng> transcription, DNA damage response and cell cycle control) by trong>introng>hibittrong>introng>g its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]

PDCD2 Gene

programmed cell death 2

This gene encodes a nuclear protetrong>introng> expressed trong>introng> a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germtrong>introng>al center development, suggesttrong>introng>g that BCL6 regulates apoptosis by its effects on this protetrong>introng>. Alternative splictrong>introng>g results trong>introng> multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]

PDCD1 Gene

programmed cell death 1

Programmed cell death protetrong>introng> 1 (PDCD1) is an immune-trong>introng>hibitory receptor expressed trong>introng> activated T cells; it is trong>introng>volved trong>introng> the regulation of T-cell functions, trong>introng>cludtrong>introng>g those of effector CD8+ T cells. trong>Introng> addition, this protetrong>introng> can also promote the differentiation of CD4+ T cells trong>introng>to T regulatory cells. PDCD1 is expressed trong>introng> many types of tumors trong>introng>cludtrong>introng>g melanomas, and has demonstrated to play a role trong>introng> anti-tumor immunity. Moreover, this protetrong>introng> has been shown to be trong>introng>volved trong>introng> safeguardtrong>introng>g agatrong>introng>st autoimmunity, however, it can also contribute to the trong>introng>hibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]

PDCD10 Gene

programmed cell death 10

This gene encodes an evolutionarily conserved protetrong>introng> associated with cell apoptosis. The protetrong>introng> trong>introng>teracts with the sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase MST4 to modulate the extracellular signal-regulated ktrong>introng>ase (ERK) pathway. It also trong>introng>teracts with and is phosphoryated by sertrong>introng>e/threontrong>introng>e ktrong>introng>ase 25, and is thought to function trong>introng> a signaltrong>introng>g pathway essential for vascular developent. Mutations trong>introng> this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Jul 2008]

PDCD11 Gene

programmed cell death 11

PDCD11 is a NF-kappa-B (NFKB1; 164011)-btrong>introng>dtrong>introng>g protetrong>introng> that colocalizes with U3 RNA (MIM 180710) trong>introng> the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]

LOC345471 Gene

cell division cycle 37 homolog (S. cerevisiae) pseudogene

MCF2 Gene

MCF.2 cell ltrong>introng>e derived transformtrong>introng>g sequence

The oncogenic protetrong>introng> encoded by this gene is a guantrong>introng>e nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varytrong>introng>g levels of GEF activity.[provided by RefSeq, Jan 2010]

CDON Gene

cell adhesion associated, oncogene regulated

This gene encodes a cell surface receptor that is a member of the immunoglobultrong>introng> superfamily. The encoded protetrong>introng> contatrong>introng>s three fibronecttrong>introng> type III domatrong>introng>s and five immunoglobultrong>introng>-like C2-type domatrong>introng>s. This protetrong>introng> is a member of a cell-surface receptor complex that mediates cell-cell trong>introng>teractions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]

PPDPF Gene

pancreatic progenitor cell differentiation and proliferation factor

Predicted to be trong>introng>volved trong>introng> cell differentiation. Predicted to act upstream of or withtrong>introng> TORC1 signaltrong>introng>g and liver development. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

TRBV10-2 Gene

T cell receptor beta variable 10-2

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV10-3 Gene

T cell receptor beta variable 10-3

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV10-1 Gene

T cell receptor beta variable 10-1(gene/pseudogene)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC102725023 Gene

killer cell immunoglobultrong>introng>-like receptor 2DS3 allele 0020101

CDC20P1 Gene

cell division cycle 20 pseudogene 1

PDCD5P1 Gene

programmed cell death 5 pseudogene 1

PDCD5P2 Gene

programmed cell death 5 pseudogene 2

LIMS2 Gene

LIM and senescent cell antigen-like domatrong>introng>s 2

This gene encodes a member of a small family of focal adhesion protetrong>introng>s which trong>introng>teracts with ILK (trong>introng>tegrtrong>introng>-ltrong>introng>ked ktrong>introng>ase), a protetrong>introng> which effects protetrong>introng>-protetrong>introng> trong>introng>teractions with the extraceullar matrix. The encoded protetrong>introng> has five LIM domatrong>introng>s, each domatrong>introng> formtrong>introng>g two ztrong>introng>c ftrong>introng>gers, which permit trong>introng>teractions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

LIMS3 Gene

LIM and senescent cell antigen-like domatrong>introng>s 3

Predicted to enable metal ion btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LIMS1 Gene

LIM and senescent cell antigen-like domatrong>introng>s 1

The protetrong>introng> encoded by this gene is an adaptor protetrong>introng> which contatrong>introng>s five LIM domatrong>introng>s, or double ztrong>introng>c ftrong>introng>gers. The protetrong>introng> is likely trong>introng>volved trong>introng> trong>introng>tegrtrong>introng> signaltrong>introng>g through its LIM domatrong>introng>-mediated trong>introng>teraction with trong>introng>tegrtrong>introng>-ltrong>introng>ked ktrong>introng>ase, found trong>introng> focal adhesion plaques. It is also thought to act as a bridge ltrong>introng>ktrong>introng>g trong>introng>tegrtrong>introng>-ltrong>introng>ked ktrong>introng>ase to NCK adaptor protetrong>introng> 2, which is trong>introng>volved trong>introng> growth factor receptor ktrong>introng>ase signaltrong>introng>g pathways. Its localization to the periphery of spreadtrong>introng>g cells also suggests that this protetrong>introng> may play a role trong>introng> trong>introng>tegrtrong>introng>-mediated cell adhesion or spreadtrong>introng>g. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

TRGJP2 Gene

T cell receptor gamma jotrong>introng>trong>introng>g P2

TRGJP1 Gene

T cell receptor gamma jotrong>introng>trong>introng>g P1

LOC102725210 Gene

vegetative cell wall protetrong>introng> gp1-like

BOD1 Gene

biorientation of chromosomes trong>introng> cell division 1

Enables protetrong>introng> phosphatase 2A btrong>introng>dtrong>introng>g activity and protetrong>introng> phosphatase trong>introng>hibitor activity. trong>Introng>volved trong>introng> mitotic sister chromatid biorientation; mitotic sister chromatid cohesion, centromeric; and protetrong>introng> localization to chromosome, centromeric region. Located trong>introng> centrosome; sptrong>introng>dle microtubule; and sptrong>introng>dle pole. Part of Set1C/COMPASS complex and outer ktrong>introng>etochore. [provided by Alliance of Genome Resources, Mar 2025]

TRBV25-1 Gene

T cell receptor beta variable 25-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

VTCN1 Gene

V-set domatrong>introng> contatrong>introng>trong>introng>g T cell activation trong>introng>hibitor 1

This gene encodes a protetrong>introng> belongtrong>introng>g to the B7 costimulatory protetrong>introng> family. Protetrong>introng>s trong>introng> this family are present on the surface of antigen-presenttrong>introng>g cells and trong>introng>teract with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protetrong>introng> has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

CERCAM Gene

cerebral endothelial cell adhesion molecule

Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> cell adhesion. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

VCAM1 Gene

vascular cell adhesion molecule 1

This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotetrong>introng> expressed by cytoktrong>introng>e-activated endothelium. This type I membrane protetrong>introng> mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role trong>introng> the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]

LAKLG Gene

lymphoktrong>introng>e-activated killer cell ligand

TRBV17 Gene

T cell receptor beta variable 17 (non-functional)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV16 Gene

T cell receptor beta variable 16 (gene/pseudogene)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV15 Gene

T cell receptor beta variable 15

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV14 Gene

T cell receptor beta variable 14

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV13 Gene

T cell receptor beta variable 13

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV19 Gene

T cell receptor beta variable 19

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBV18 Gene

T cell receptor beta variable 18

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

NOS3 Gene

nitric oxide synthase 3 (endothelial cell)

Nitric oxide is a reactive free radical which acts as a biologic mediator trong>introng> several processes, trong>introng>cludtrong>introng>g neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-argtrong>introng>trong>introng>e by nitric oxide synthases. Variations trong>introng> this gene are associated with susceptibility to coronary spasm. Alternative splictrong>introng>g and the use of alternative promoters results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2016]

TRDV1 Gene

T cell receptor delta variable 1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRDV3 Gene

T cell receptor delta variable 3

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRDV2 Gene

T cell receptor delta variable 2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

URGCP Gene

upregulator of cell proliferation

URG4 is upregulated trong>introng> the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carctrong>introng>oma by promottrong>introng>g hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]

SMAGP Gene

small cell adhesion glycoprotetrong>introng>

Located trong>introng> cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE15P Gene

speedy/RINGO cell cycle regulator family member E15, pseudogene

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

PTCRA Gene

pre T-cell antigen receptor alpha

The protetrong>introng> encoded by this gene is a strong>introng>gle-pass type I membrane protetrong>introng> that is found trong>introng> immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protetrong>introng> forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]

NCAM1 Gene

neural cell adhesion molecule 1

This gene encodes a cell adhesion protetrong>introng> which is a member of the immunoglobultrong>introng> superfamily. The encoded protetrong>introng> is trong>introng>volved trong>introng> cell-to-cell trong>introng>teractions as well as cell-matrix trong>introng>teractions durtrong>introng>g development and differentiation. The encoded protetrong>introng> plays a role trong>introng> the development of the nervous system by regulattrong>introng>g neurogenesis, neurite outgrowth, and cell migration. This protetrong>introng> is also trong>introng>volved trong>introng> the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role trong>introng> immune surveillance. This protetrong>introng> plays a role trong>introng> signal transduction by trong>introng>teracttrong>introng>g with fibroblast growth factor receptors, N-cadhertrong>introng> and other components of the extracellular matrix and by triggertrong>introng>g signalltrong>introng>g cascades trong>introng>volvtrong>introng>g FYN-focal adhesion ktrong>introng>ase (FAK), mitogen-activated protetrong>introng> ktrong>introng>ase (MAPK), and phosphatidyltrong>introng>ositol 3-ktrong>introng>ase (PI3K). One promtrong>introng>ent isoform of this gene, cell surface molecule CD56, plays a role trong>introng> several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, trong>trong>introng>creasetrong>d expression of CD56 is correlated with lower survival trong>introng> acute myeloid leukemia patients whereas trong>trong>introng>creasetrong>d severity of COVID-19 is correlated with decreased abundance of CD56-expresstrong>introng>g NK cells trong>introng> peripheral blood. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct protetrong>introng> isoforms. [provided by RefSeq, Aug 2020]

NCAM2 Gene

neural cell adhesion molecule 2

The protetrong>introng> encoded by this gene belongs to the immunoglobultrong>introng> superfamily. It is a type I membrane protetrong>introng> and may function trong>introng> selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008]

TRBVAOR9-2 Gene

T cell receptor beta variable A/OR9-2 (pseudogene)

TRAV36DV7 Gene

T cell receptor alpha variable 36/delta variable 7

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

KIR2DS4 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, short cytoplasmic tail, 4

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, short cytoplasmic tail, 3

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, short cytoplasmic tail, 1

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

CDC27P7 Gene

cell division cycle 27 pseudogene 7

LOC101930589 Gene

cell division cycle protetrong>introng> 27 homolog pseudogene

CDC25C Gene

cell division cycle 25C

This gene encodes a conserved protetrong>introng> that plays a key role trong>introng> the regulation of cell division. The encoded protetrong>introng> directs dephosphorylation of cycltrong>introng> B-bound CDC2 and triggers entry trong>introng>to mitosis. It also suppresses p53-trong>introng>duced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Dec 2015]

CDC25B Gene

cell division cycle 25B

CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cycltrong>introng> dependent ktrong>introng>ase CDC2 by removtrong>introng>g two phosphate groups and it is required for entry trong>introng>to mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protetrong>introng> is nuclear trong>introng> the M and G1 phases of the cell cycle and moves to the cytoplasm durtrong>introng>g S and G2. CDC25B has oncogenic properties, although its role trong>introng> tumor formation has not been determtrong>introng>ed. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]

CDC25A Gene

cell division cycle 25A

CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cycltrong>introng>-dependent ktrong>introng>ase CDC2 by removtrong>introng>g two phosphate groups. CDC25A is specifically degraded trong>introng> response to DNA damage, which prevents cells with chromosomal abnormalities from progresstrong>introng>g through cell division. CDC25A is an oncogene, although its exact role trong>introng> oncogenesis has not been demonstrated. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PBG1 Gene

pancreatic beta cell glycoprotetrong>introng> 1

TRAJ49 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 49

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ48 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 48

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ41 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 41

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ40 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 40

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ43 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 43

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ42 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 42

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ45 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 45

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ44 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 44

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ47 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 47

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ46 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 46

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

CDC27P2 Gene

cell division cycle 27 pseudogene 2

CDC27P3 Gene

cell division cycle 27 pseudogene 3

CDC27P1 Gene

cell division cycle 27 pseudogene 1

CDC27P6 Gene

cell division cycle 27 pseudogene 6

CDC27P4 Gene

cell division cycle 27 pseudogene 4

CDC27P5 Gene

cell division cycle 27 pseudogene 5

CDC27P8 Gene

cell division cycle 27 pseudogene 8

CDC27P9 Gene

cell division cycle 27 pseudogene 9

SPDYE2B Gene

speedy/RINGO cell cycle regulator family member E2B

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

HEPACAM Gene

hepatic and glial cell adhesion molecule

The protetrong>introng> encoded by this gene is a strong>introng>gle-pass type I membrane protetrong>introng> that localizes to the cytoplasmic side of the cell membrane. The encoded protetrong>introng> acts as a homodimer and is trong>introng>volved trong>introng> cell motility and cell-matrix trong>introng>teractions. The expression of this gene is downregulated or undetectable trong>introng> many cancer cell ltrong>introng>es, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]

TRGC1 Gene

T cell receptor gamma constant 1

Enables small molecule btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> T cell receptor signaltrong>introng>g pathway; adaptive immune response; and gamma-delta T cell activation. Predicted to act upstream of or withtrong>introng> homeostasis of number of cells withtrong>introng> a tissue. Predicted to be located trong>introng> membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGC2 Gene

T cell receptor gamma constant 2

Predicted to enable transmembrane signaltrong>introng>g receptor activity. Predicted to be trong>introng>volved trong>introng> T cell receptor signaltrong>introng>g pathway and adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CDC27 Gene

cell division cycle 27

The protetrong>introng> encoded by this gene shares strong similarity with Saccharomyces cerevisiae protetrong>introng> Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protetrong>introng> is a component of the anaphase-promottrong>introng>g complex (APC), which is composed of eight protetrong>introng> subunits and is highly conserved trong>introng> eukaryotic cells. This complex catalyzes the formation of cycltrong>introng> B-ubiquittrong>introng> conjugate, which is responsible for the ubiquittrong>introng>-mediated proteolysis of B-type cycltrong>introng>s. The protetrong>introng> encoded by this gene and three other members of the APC complex contatrong>introng> tetratricopeptide (TPR) repeats, which are important for protetrong>introng>-protetrong>introng> trong>introng>teractions. This protetrong>introng> was shown to trong>introng>teract with mitotic checkpotrong>introng>t protetrong>introng>s trong>introng>cludtrong>introng>g Mad2, p55CDC and BUBR1, and it may thus be trong>introng>volved trong>introng> controlltrong>introng>g the timtrong>introng>g of mitosis. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]

CDC26 Gene

cell division cycle 26

The protetrong>introng> encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promottrong>introng>g complex (APC). APC is composed of a group of highly conserved protetrong>introng>s and functions as a cell cycle-regulated ubiquittrong>introng>-protetrong>introng> ligase. APC thus is responsible for the cell cycle regulated proteolysis of various protetrong>introng>s. [provided by RefSeq, Jul 2008]

CDC20 Gene

cell division cycle 20

CDC20 appears to act as a regulatory protetrong>introng> trong>introng>teracttrong>introng>g with several other protetrong>introng>s at multiple potrong>introng>ts trong>introng> the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]

SPDYE8P Gene

speedy/RINGO cell cycle regulator family member E8, pseudogene

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

BCAP31 Gene

B-cell receptor-associated protetrong>introng> 31

This gene encodes a member of the B-cell receptor associated protetrong>introng> 31 superfamily. The encoded protetrong>introng> is a multi-pass transmembrane protetrong>introng> of the endoplasmic reticulum that is trong>introng>volved trong>introng> the anterograde transport of membrane protetrong>introng>s from the endoplasmic reticulum to the Golgi and trong>introng> caspase 8-mediated apoptosis. Microdeletions trong>introng> this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

NEDD4L Gene

neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquittrong>introng> protetrong>introng> ligase

This gene encodes a member of the Nedd4 family of HECT domatrong>introng> E3 ubiquittrong>introng> ligases. HECT domatrong>introng> E3 ubiquittrong>introng> ligases transfer ubiquittrong>introng> from E2 ubiquittrong>introng>-conjugattrong>introng>g enzymes to protetrong>introng> substrates, thus targettrong>introng>g specific protetrong>introng>s for lysosomal degradation. The encoded protetrong>introng> mediates the ubiquittrong>introng>ation of multiple target substrates and plays a critical role trong>introng> epithelial sodium transport by regulattrong>introng>g the cell surface expression of the epithelial sodium channel, ENaC. Strong>introng>gle nucleotide polymorphisms trong>introng> this gene may be associated with essential hypertension. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

THY1 Gene

Thy-1 cell surface antigen

This gene encodes a cell surface glycoprotetrong>introng> and member of the immunoglobultrong>introng> superfamily of protetrong>introng>s. The encoded protetrong>introng> is trong>introng>volved trong>introng> cell adhesion and cell communication trong>introng> numerous cell types, but particularly trong>introng> cells of the immune and nervous systems. The encoded protetrong>introng> is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor trong>introng> nasopharyngeal carctrong>introng>oma. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2015]

DAD1P1 Gene

defender agatrong>introng>st cell death 1 pseudogene 1

PARD3B Gene

par-3 family cell polarity regulator beta

Predicted to enable phosphatidyltrong>introng>ositol btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g establishment of cell polarity; establishment of centrosome localization; and establishment or matrong>introng>tenance of epithelial cell apical/basal polarity. Located trong>introng> cell junction. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. [provided by Alliance of Genome Resources, Mar 2025]

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

CLNK Gene

cytoktrong>introng>e-dependent hematopoietic cell ltrong>introng>ker

MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role trong>introng> the regulation of immunoreceptor signaltrong>introng>g, trong>introng>cludtrong>introng>g PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaltrong>introng>g and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]

TCO Gene

Thyroid carctrong>introng>oma, nonmedullary, with cell oxyphilia

CDC14C Gene

cell division cycle 14C

This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The trong>introng>trons trong>introng> the codtrong>introng>g sequence have been processed out relative to the CDC14B locus, but there is an trong>introng>tact open readtrong>introng>g frame that is misstrong>introng>g only some sequence at the N-termtrong>introng>us, trong>introng>cludtrong>introng>g the nuclear localiztion signal, relative to protetrong>introng>s encoded by the CDC14B gene. There is a difference trong>introng> the subcellular localization of the protetrong>introng> encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protetrong>introng> encoded by this gene localize to the endoplasmic reticulum, trong>introng>dicattrong>introng>g a possible new functional role for this gene. [provided by RefSeq, Nov 2017]

CDC14B Gene

cell division cycle 14B

The protetrong>introng> encoded by this gene is a member of the dual specificity protetrong>introng> tyrostrong>introng>e phosphatase family. This protetrong>introng> is highly similar to Saccharomyces cerevisiae Cdc14, a protetrong>introng> tyrostrong>introng>e phosphatase trong>introng>volved trong>introng> the exit of cell mitosis and trong>introng>itiation of DNA replication, which suggests the role trong>introng> cell cycle control. This protetrong>introng> has been shown to trong>introng>teract with and dephosphorylates tumor suppressor protetrong>introng> p53, and is thought to regulate the function of p53. Alternative splice of this gene results trong>introng> 3 transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2008]

CDC14A Gene

cell division cycle 14A

The protetrong>introng> encoded by this gene is a member of the dual specificity protetrong>introng> tyrostrong>introng>e phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protetrong>introng> tyrostrong>introng>e phosphatase trong>introng>volved trong>introng> the exit of cell mitosis and trong>introng>itiation of DNA replication, suggesttrong>introng>g a role trong>introng> cell cycle control. This protetrong>introng> has been shown to trong>introng>teract with, and dephosphorylate tumor suppressor protetrong>introng> p53, and is thought to regulate the function of p53. Alternative splictrong>introng>g of this gene results trong>introng> several transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2008]

CEACAM20 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 20

Predicted to enable protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of immune system process and signal transduction. Predicted to be located trong>introng> apical plasma membrane and microvillus membrane. Predicted to be active trong>introng> cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CEACAM21 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 21

Predicted to be trong>introng>volved trong>introng> T cell activation and immune response. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100420530 Gene

muctrong>introng> 4, cell surface associated pseudogene

LOC100420536 Gene

islet cell autoantigen 1, 69kDa pseudogene

LOC266683 Gene

dendritic cell protetrong>introng> pseudogene

TRAV38-2DV8 Gene

T cell receptor alpha variable 38-2/delta variable 8

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

ICA1L Gene

islet cell autoantigen 1,69kDa-like

Predicted to enable protetrong>introng> domatrong>introng> specific btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of transport. Predicted to act upstream of or withtrong>introng> spermatid development. Predicted to be located trong>introng> acrosomal vesicle. Predicted to be active trong>introng> Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

LOC101928242 Gene

cell cycle control protetrong>introng> 50B-like

SPDYE7P Gene

speedy/RINGO cell cycle regulator family member E7, pseudogene

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-4 Gene

T cell receptor beta variable 6-4

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV6-1 Gene

T cell receptor beta variable 6-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CDC23 Gene

cell division cycle 23

The protetrong>introng> encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protetrong>introng> essential for cell cycle progression through the G2/M transition. This protetrong>introng> is a component of anaphase-promottrong>introng>g complex (APC), which is composed of eight protetrong>introng> subunits and highly conserved trong>introng> eukaryotic cells. APC catalyzes the formation of cycltrong>introng> B-ubiquittrong>introng> conjugate that is responsible for the ubiquittrong>introng>-mediated proteolysis of B-type cycltrong>introng>s. This protetrong>introng> and 3 other members of the APC complex contatrong>introng> the TPR (tetratricopeptide repeat), a protetrong>introng> domatrong>introng> important for protetrong>introng>-protetrong>introng> trong>introng>teraction. [provided by RefSeq, Jul 2008]

PRCC Gene

papillary renal cell carctrong>introng>oma (translocation-associated)

This gene encodes a protetrong>introng> that may play a role trong>introng> pre-mRNA splictrong>introng>g. Chromosomal translocations (X;1)(p11;q21) that result trong>introng> fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carctrong>introng>oma. A PRCC-TFE3 fusion protetrong>introng> is expressed trong>introng> affected carctrong>introng>omas and is likely associated with altered gene transactivation. This fusion protetrong>introng> has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]

LOC391239 Gene

V-set domatrong>introng> contatrong>introng>trong>introng>g T cell activation trong>introng>hibitor 1 pseudogene

RQCD1 Gene

RCD1 required for cell differentiation1 homolog (S. pombe)

This gene encodes a member of the highly conserved RCD1 protetrong>introng> family. The encoded protetrong>introng> is a transcriptional cofactor and a core protetrong>introng> of the CCR4-NOT complex. It may be trong>introng>volved trong>introng> signal transduction as well as rettrong>introng>oic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]

LOC100128775 Gene

neural precursor cell expressed, developmentally down-regulated 8 pseudogene

BOD1L2 Gene

biorientation of chromosomes trong>introng> cell division 1-like 2

Predicted to be trong>introng>volved trong>introng> cell division. Predicted to be located trong>introng> centrosome; cytoplasm; and ktrong>introng>etochore. [provided by Alliance of Genome Resources, Mar 2025]

BOD1L1 Gene

biorientation of chromosomes trong>introng> cell division 1-like 1

trong>Introng>volved trong>introng> DNA damage response and replication fork processtrong>introng>g. Located trong>introng> nucleoplasm. Part of Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Mar 2025]

KLRAP1 Gene

killer cell lecttrong>introng>-like receptor subfamily A pseudogene 1

PCNAP2 Gene

proliferattrong>introng>g cell nuclear antigen pseudogene 2

TCF7 Gene

transcription factor 7 (T-cell specific, HMG-box)

This gene encodes a member of the T-cell factor/lymphoid enhancer-btrong>introng>dtrong>introng>g factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predomtrong>introng>antly trong>introng> T-cells and plays a critical role trong>introng> natural killer cell and trong>introng>nate lymphoid cell development. The encoded protetrong>introng> forms a complex with beta-catentrong>introng> and activates transcription through a Wnt/beta-catentrong>introng> signaltrong>introng>g pathway. Mice with a knockout of this gene are viable and fertile, but display a block trong>introng> T-lymphocyte differentiation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Naturally-occurrtrong>introng>g isoforms lacktrong>introng>g the N-termtrong>introng>al beta-catentrong>introng> trong>introng>teraction domatrong>introng> may act as domtrong>introng>ant negative regulators of Wnt signaltrong>introng>g. [provided by RefSeq, Oct 2016]

LOC101409255 Gene

cell division cycle 42 pseudogene

LOC101409256 Gene

cell division cycle 42 pseudogene

PRG2 Gene

proteoglycan 2, bone marrow (natural killer cell activator, eostrong>introng>ophil granule major basic protetrong>introng>)

The protetrong>introng> encoded by this gene is the predomtrong>introng>ant constituent of the crystalltrong>introng>e core of the eostrong>introng>ophil granule. High levels of the proform of this protetrong>introng> are also present trong>introng> placenta and pregnancy serum, where it exists as a complex with several other protetrong>introng>s trong>introng>cludtrong>introng>g pregnancy-associated plasma protetrong>introng> A (PAPPA), angiotenstrong>introng>ogen (AGT), and C3dg. This protetrong>introng> may be trong>introng>volved trong>introng> antiparasitic defense mechanisms as a cytotoxtrong>introng> and helmtrong>introng>thotoxtrong>introng>, and trong>introng> immune hypersensitivity reactions. The encoded protetrong>introng> contatrong>introng>s a peptide that displays potent antimicrobial activity agatrong>introng>st Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated trong>introng> epithelial cell damage, exfoliation, and bronchospasm trong>introng> allergic diseases. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

MADCAM1 Gene

mucosal vascular addresstrong>introng> cell adhesion molecule 1

The protetrong>introng> encoded by this gene is an endothelial cell adhesion molecule that trong>introng>teracts preferentially with the leukocyte beta7 trong>introng>tegrtrong>introng> LPAM-1 (alpha4beta7), L-selecttrong>introng>, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes trong>introng>to mucosal and trong>introng>flamed tissues. It is a member of the immunoglobultrong>introng> family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encodtrong>introng>g different protetrong>introng> isoforms have been found for this gene, but the full-length nature of some variants has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]

LOC100128686 Gene

programmed cell death 10 pseudogene

ICK Gene

trong>introng>testtrong>introng>al cell (MAK-like) ktrong>introng>ase

Eukaryotic protetrong>introng> ktrong>introng>ases are enzymes that belong to a very extensive family of protetrong>introng>s which share a conserved catalytic core common with both sertrong>introng>e/threontrong>introng>e and tyrostrong>introng>e protetrong>introng> ktrong>introng>ases. This gene encodes an trong>introng>testtrong>introng>al sertrong>introng>e/threontrong>introng>e ktrong>introng>ase harbortrong>introng>g a dual phosphorylation site found trong>introng> mitogen-activattrong>introng>g protetrong>introng> (MAP) ktrong>introng>ases. The protetrong>introng> localizes to the trong>introng>testtrong>introng>al crypt region and is thought to be important trong>introng> trong>introng>testtrong>introng>al epithelial cell proliferation and differentiation. Alternative splictrong>introng>g has been observed at this locus and two variants, encodtrong>introng>g the same isoform, have been identified. [provided by RefSeq, Jul 2008]

ZYG11AP1 Gene

zyg-11 family member A, cell cycle regulator pseudogene 1

NET1 Gene

neuroepithelial cell transformtrong>introng>g 1

This gene is part of the family of Rho guantrong>introng>e nucleotide exchange factors. Members of this family activate Rho protetrong>introng>s by catalyztrong>introng>g the exchange of GDP for GTP. The protetrong>introng> encoded by this gene trong>introng>teracts with RhoA withtrong>introng> the cell nucleus and may play a role trong>introng> repairtrong>introng>g DNA damage after ioniztrong>introng>g radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splictrong>introng>g results trong>introng> multiple transcript variants that encode different protetrong>introng> isoforms. [provided by RefSeq, Jul 2012]

TRBV28 Gene

T cell receptor beta variable 28

Predicted to enable peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV26 Gene

T cell receptor beta variable 26 (pseudogene)

MCTS2P Gene

malignant T cell amplified sequence 2, pseudogene

This locus represents a retrogene copy of MCTS1 (GeneID:28985) and contatrong>introng>s an ORF similar to that parent gene. This locus is situated trong>introng> a differentially methylated region (DMR) and transcripts trong>introng> this region are imprtrong>introng>ted. [provided by RefSeq, Nov 2021]

DSCAM Gene

Down syndrome cell adhesion molecule

This gene is a member of the immunoglobultrong>introng> superfamily of cell adhesion molecules (Ig-CAMs), and is trong>introng>volved trong>introng> human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encodtrong>introng>g a similar Ig-CAM protetrong>introng> is located on chromosome 11. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

BCAP31P1 Gene

B-cell receptor-associated protetrong>introng> 31 pseudogene 1

LOC100418583 Gene

muctrong>introng> 4, cell surface associated pseudogene

LOC100418585 Gene

muctrong>introng> 4, cell surface associated pseudogene

LOC100418584 Gene

muctrong>introng> 4, cell surface associated pseudogene

SCAI Gene

suppressor of cancer cell trong>introng>vasion

This gene encodes a regulator of cell migration. The encoded protetrong>introng> appears to function trong>introng> the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

SDK1 Gene

sidekick cell adhesion molecule 1

The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng> superfamily. The protetrong>introng> contatrong>introng>s six immunoglobultrong>introng>-like domatrong>introng>s and thirteen fibronecttrong>introng> type III domatrong>introng>s. Fibronecttrong>introng> type III domatrong>introng>s are present trong>introng> both extracellular and trong>introng>tracellular protetrong>introng>s and tandem repeats are known to contatrong>introng> btrong>introng>dtrong>introng>g sites for DNA, hepartrong>introng> and the cell surface. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2016]

SDK2 Gene

sidekick cell adhesion molecule 2

The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng> superfamily. The protetrong>introng> contatrong>introng>s two immunoglobultrong>introng> domatrong>introng>s and thirteen fibronecttrong>introng> type III domatrong>introng>s. Fibronecttrong>introng> type III domatrong>introng>s are present trong>introng> both extracellular and trong>introng>tracellular protetrong>introng>s and tandem repeats are known to contatrong>introng> btrong>introng>dtrong>introng>g sites for DNA, hepartrong>introng> and the cell surface. This protetrong>introng>, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splictrong>introng>g at this gene locus has been observed but the full-length nature of additional variants has not yet been determtrong>introng>ed. [provided by RefSeq, Jul 2008]

TRAV31 Gene

T cell receptor alpha variable 31 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

PBX4 Gene

pre-B-cell leukemia homeobox 4

This gene encodes a member of the pre-B cell leukemia transcription factor family. These protetrong>introng>s are homeobox protetrong>introng>s that play critical roles trong>introng> embryonic development and cellular differentiation both as Hox cofactors and through Hox-trong>introng>dependent pathways. The encoded protetrong>introng> contatrong>introng>s a homeobox DNA-btrong>introng>dtrong>introng>g domatrong>introng>, but specific functions of the protetrong>introng> have not been determtrong>introng>ed. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]

PBX2 Gene

pre-B-cell leukemia homeobox 2

This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is trong>introng>volved trong>introng> t(1;19) translocation trong>introng> acute pre-B-cell leukemias. This protetrong>introng> is a transcriptional activator which btrong>introng>ds to the TLX1 promoter. The gene is located withtrong>introng> the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]

PBX3 Gene

pre-B-cell leukemia homeobox 3

Predicted to enable DNA-btrong>introng>dtrong>introng>g transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g eye development; nervous system development; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g adult locomotory behavior; dorsal sptrong>introng>al cord development; and regulation of respiratory gaseous exchange by nervous system process. Predicted to be located trong>introng> chromattrong>introng>. Predicted to be part of transcription regulator complex. Predicted to be active trong>introng> nucleus. Biomarker of esophagus squamous cell carctrong>introng>oma. [provided by Alliance of Genome Resources, Mar 2025]

PBX1 Gene

pre-B-cell leukemia homeobox 1

This gene encodes a nuclear protetrong>introng> that belongs to the PBX homeobox family of transcriptional factors. Studies trong>introng> mice suggest that this gene may be trong>introng>volved trong>introng> the regulation of osteogenesis and required for skeletal patterntrong>introng>g and programmtrong>introng>g. A chromosomal translocation, t(1;19) trong>introng>volvtrong>introng>g this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulttrong>introng>g fusion protetrong>introng>, trong>introng> which the DNA btrong>introng>dtrong>introng>g domatrong>introng> of E2A is replaced by the DNA btrong>introng>dtrong>introng>g domatrong>introng> of this protetrong>introng>, transforms cells by constitutively activattrong>introng>g transcription of genes regulated by the PBX protetrong>introng> family. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]

TRAJ30 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 30

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ31 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 31

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ33 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 33

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ34 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 34

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ35 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 35 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ36 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 36

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ37 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 37

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ38 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 38

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ39 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 39

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

KIR3DS1 Gene

killer cell immunoglobultrong>introng>-like receptor, three domatrong>introng>s, short cytoplasmic tail, 1

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

TAX1BP1 Gene

Tax1 (human T-cell leukemia virus type I) btrong>introng>dtrong>introng>g protetrong>introng> 1

This gene encodes a HTLV-1 tax1 btrong>introng>dtrong>introng>g protetrong>introng>. The encoded protetrong>introng> trong>introng>teracts with TNFAIP3, and trong>introng>hibits TNF-trong>introng>duced apoptosis by mediattrong>introng>g the TNFAIP3 anti-apoptotic activity. Degradation of this protetrong>introng> by caspase-3-like family protetrong>introng>s is associated with apoptosis trong>introng>duced by TNF. This protetrong>introng> may also have a role trong>introng> the trong>introng>hibition of trong>introng>flammatory signaltrong>introng>g pathways. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, May 2011]

TAX1BP3 Gene

Tax1 (human T-cell leukemia virus type I) btrong>introng>dtrong>introng>g protetrong>introng> 3

This gene encodes a small, highly conserved protetrong>introng> with a strong>introng>gle PDZ domatrong>introng>. PDZ (PSD-95/Discs large/ZO-1 homologous) domatrong>introng>s promote protetrong>introng>-protetrong>introng> trong>introng>teractions that affect cell signaltrong>introng>g, adhesion, protetrong>introng> scaffoldtrong>introng>g, and receptor and ion transporter functions. The encoded protetrong>introng> trong>introng>teracts with a large number of target protetrong>introng>s that play roles trong>introng> signaltrong>introng>g pathways; for example, it trong>introng>teracts with Rho A and glutamtrong>introng>ase L and also acts as a negative regulator of the Wnt/beta-catentrong>introng> signaltrong>introng>g pathway. This protetrong>introng> was first identified as btrong>introng>dtrong>introng>g to the T-cell leukaemia virus (HTLV1) Tax oncoprotetrong>introng>. Overexpression of this gene has been implicated trong>introng> altered cancer cell adhesion, migration and metastasis. The encoded protetrong>introng> also modulates the localization and density of trong>introng>wardly rectifytrong>introng>g potassium channel 2.3 (Kir2.3). To date, this protetrong>introng> has been shown to play a role trong>introng> cell proliferation, development, stress response, and polarization. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Apr 2017]

CDC73 Gene

cell division cycle 73

This gene encodes a tumor suppressor that is trong>introng>volved trong>introng> transcriptional and post-transcriptional control pathways. The protetrong>introng> is a component of the the PAF protetrong>introng> complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protetrong>introng> appears to facilitate the association of 3' mRNA processtrong>introng>g factors with actively-transcribed chromattrong>introng>. Mutations trong>introng> this gene have been ltrong>introng>ked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carctrong>introng>oma. [provided by RefSeq, Jul 2009]

TCAIM Gene

T cell activation trong>introng>hibitor, mitochondrial

Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

TRBV20OR9-2 Gene

T cell receptor beta variable 20/OR9-2 (non-functional)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

AAMP Gene

angio-associated, migratory cell protetrong>introng>

The gene is a member of the immunoglobultrong>introng> superfamily. The encoded protetrong>introng> is associated with angiogenesis, with potential roles trong>introng> endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protetrong>introng> can btrong>introng>d to hepartrong>introng> and may mediate hepartrong>introng>-sensitive cell adhesion. [provided by RefSeq, Oct 2014]

CDC26P1 Gene

cell division cycle 26 pseudogene 1

TRAV2 Gene

T cell receptor alpha variable 2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV3 Gene

T cell receptor alpha variable 3 (gene/pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV4 Gene

T cell receptor alpha variable 4

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV6 Gene

T cell receptor alpha variable 6

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV7 Gene

T cell receptor alpha variable 7

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

PARD6G Gene

par-6 family cell polarity regulator gamma

Predicted to be trong>introng>volved trong>introng> centrosome cycle; establishment or matrong>introng>tenance of epithelial cell apical/basal polarity; and regulation of cellular localization. Predicted to be located trong>introng> cytosol and plasma membrane. Predicted to be part of PAR polarity complex. Predicted to be active trong>introng> apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

PARD6B Gene

par-6 family cell polarity regulator beta

This gene is a member of the PAR6 family and encodes a protetrong>introng> with a PSD95/Discs-large/ZO1 (PDZ) domatrong>introng>, an OPR domatrong>introng> and a semi-Cdc42/Rac trong>introng>teractive btrong>introng>dtrong>introng>g (CRIB) domatrong>introng>. This cytoplasmic protetrong>introng> is trong>introng>volved trong>introng> asymmetrical cell division and cell polarization processes as a member of a multi-protetrong>introng> complex. [provided by RefSeq, Jul 2008]

PARD6A Gene

par-6 family cell polarity regulator alpha

This gene is a member of the PAR6 family and encodes a protetrong>introng> with a PSD95/Discs-large/ZO1 (PDZ) domatrong>introng> and a semi-Cdc42/Rac trong>introng>teractive btrong>introng>dtrong>introng>g (CRIB) domatrong>introng>. This cell membrane protetrong>introng> is trong>introng>volved trong>introng> asymmetrical cell division and cell polarization processes as a member of a multi-protetrong>introng> complex. The protetrong>introng> also has a role trong>introng> the epithelial-to-mesenchymal transition (EMT) that characterizes the trong>introng>vasive phenotype associated with metastatic carctrong>introng>omas. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

NCCRP1 Gene

non-specific cytotoxic cell receptor protetrong>introng> 1 homolog (zebrafish)

Predicted to contribute to ubiquittrong>introng> protetrong>introng> ligase activity. trong>Introng>volved trong>introng> positive regulation of cell population proliferation. Located trong>introng> cytosol. [provided by Alliance of Genome Resources, Mar 2025]

MUC20 Gene

muctrong>introng> 20, cell surface associated

This gene encodes a member of the muctrong>introng> protetrong>introng> family. Muctrong>introng>s are high molecular weight glycoprotetrong>introng>s secreted by many epithelial tissues to form an trong>introng>soluble mucous barrier. The C-termtrong>introng>us of this family member associates with the multifunctional docktrong>introng>g site of the MET proto-oncogene and suppresses activation of some downstream MET signaltrong>introng>g cascades. The protetrong>introng> features a muctrong>introng> tandem repeat domatrong>introng> that varies between two and six copies trong>introng> most trong>introng>dividuals. Multiple variants encodtrong>introng>g different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]

MUC21 Gene

muctrong>introng> 21, cell surface associated

This gene encodes a large membrane-bound glycoprotetrong>introng> which is a member of the muctrong>introng> family. Muctrong>introng>s are O-glycosylated protetrong>introng>s that play an essential role trong>introng> formtrong>introng>g protective mucous barriers on epithelial surfaces. These protetrong>introng>s also play a role trong>introng> trong>introng>tracellular signaltrong>introng>g. The encoded protetrong>introng> contatrong>introng>s an N-termtrong>introng>al signal sequence, an extracellular muctrong>introng> domatrong>introng>, a stem domatrong>introng>, a transmembrane domatrong>introng>, and a C-termtrong>introng>al cytoplasmic tail domatrong>introng>. The muctrong>introng> domatrong>introng> contatrong>introng>s O-glycosylation sites and is polymorphic with isoforms contatrong>introng>trong>introng>g a variable number of nonidentical proltrong>introng>e-, threontrong>introng>e-, and sertrong>introng>e-rich tandem repeats of 15 amtrong>introng>o acids each. The aberrent expression of this gene is associated with lung adenocarctrong>introng>oma. [provided by RefSeq, May 2017]

LOC644070 Gene

putative germ cell-specific gene 1-like protetrong>introng> 2

Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ICOS Gene

trong>introng>ducible T-cell co-stimulator

The protetrong>introng> encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role trong>introng> cell-cell signaltrong>introng>g, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]

LOC132386 Gene

epithelial cell adhesion molecule pseudogene

LOC100129601 Gene

cell division cycle associated 7 pseudogene

SPDYE11 Gene

speedy/RINGO cell cycle regulator family member E11

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

TTIM1 Gene

T-cell tumor trong>introng>vasion and metastasis 1

NKTR Gene

natural killer cell triggertrong>introng>g receptor

This gene encodes a membrane-anchored protetrong>introng> with a hydrophobic amtrong>introng>o termtrong>introng>al domatrong>introng> and a cyclophiltrong>introng>-like PPIase domatrong>introng>. It is present on the surface of natural killer cells and facilitates their btrong>introng>dtrong>introng>g to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]

LOC100128721 Gene

stromal cell-derived factor 2 pseudogene

TRAV22 Gene

T cell receptor alpha variable 22

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV21 Gene

T cell receptor alpha variable 21

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV27 Gene

T cell receptor alpha variable 27

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV25 Gene

T cell receptor alpha variable 25

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV24 Gene

T cell receptor alpha variable 24

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV28 Gene

T cell receptor alpha variable 28 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRBV25OR9-2 Gene

T cell receptor beta variable 25/OR9-2 (pseudogene)

CHL1 Gene

cell adhesion molecule L1-like

The protetrong>introng> encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be trong>introng>volved trong>introng> signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects trong>introng> patients with 3p- syndrome. This protetrong>introng> may also play a role trong>introng> the growth of certatrong>introng> cancers. Alternate splictrong>introng>g results trong>introng> both codtrong>introng>g and non-codtrong>introng>g variants. [provided by RefSeq, Nov 2011]

BCC4 Gene

Basal cell carctrong>introng>oma, susceptibility to, 4

TRDD3 Gene

T cell receptor delta diversity 3

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRDD2 Gene

T cell receptor delta diversity 2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRDD1 Gene

T cell receptor delta diversity 1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

LOC102724621 Gene

cell division cycle protetrong>introng> 27 homolog pseudogene

TRDC Gene

T cell receptor delta constant

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

PSCA Gene

prostate stem cell antigen

This gene encodes a glycosylphosphatidyltrong>introng>ositol-anchored cell membrane glycoprotetrong>introng>. trong>Introng> addition to betrong>introng>g highly expressed trong>introng> the prostate it is also expressed trong>introng> the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated trong>introng> a large proportion of prostate cancers and is also detected trong>introng> cancers of the bladder and pancreas. This gene trong>introng>cludes a polymorphism that results trong>introng> an upstream start codon trong>introng> some trong>introng>dividuals; this polymorphism is thought to be associated with a risk for certatrong>introng> gastric and bladder cancers. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2010]

TRG-AS1 Gene

T cell receptor gamma locus antisense RNA 1

ALCAM Gene

activated leukocyte cell adhesion molecule

This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobultrong>introng> receptors with five immunoglobultrong>introng>-like domatrong>introng>s (VVC2C2C2) trong>introng> the extracellular domatrong>introng>. This protetrong>introng> btrong>introng>ds to T-cell differentiation antigene CD6, and is implicated trong>introng> the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found. [provided by RefSeq, Aug 2011]

HCST Gene

hematopoietic cell signal transducer

This gene encodes a transmembrane signaltrong>introng>g adaptor that contatrong>introng>s a YxxM motif trong>introng> its cytoplasmic domatrong>introng>. The encoded protetrong>introng> may form part of the immune recognition receptor complex with the C-type lecttrong>introng>-like receptor NKG2D. As part of this receptor complex, this protetrong>introng> may activate phosphatidyltrong>introng>ositol 3-ktrong>introng>ase dependent signaltrong>introng>g pathways through its trong>introng>tracytoplasmic YxxM motif. This receptor complex may have a role trong>introng> cell survival and proliferation by activation of NK and T cell responses. Alternative splictrong>introng>g results trong>introng> two transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]

SDF4 Gene

stromal cell derived factor 4

This gene encodes a stromal cell derived factor that is a member of the CREC protetrong>introng> family. The encoded protetrong>introng> contatrong>introng>s six EF-hand motifs and calcium-btrong>introng>dtrong>introng>g motifs. This protetrong>introng> localizes to the Golgi lumen and may be trong>introng>volved trong>introng> regulattrong>introng>g calcium dependent cellular activities. [provided by RefSeq, Sep 2011]

SDF2 Gene

stromal cell-derived factor 2

The protetrong>introng> encoded by this gene is believed to be a secretory protetrong>introng>. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splictrong>introng>g results trong>introng> both codtrong>introng>g and non-codtrong>introng>g variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]

NKG7 Gene

natural killer cell granule protetrong>introng> 7

trong>Introng>volved trong>introng> defense response to protozoan. Located trong>introng> cytolytic granule membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV22OR9-2 Gene

T cell receptor beta variable 22/OR9-2 (pseudogene)

GSG2 Gene

germ cell associated 2 (hasptrong>introng>)

Enables ATP btrong>introng>dtrong>introng>g activity and histone H3T3 ktrong>introng>ase activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g mitotic sister chromatid cohesion; mitotic sptrong>introng>dle assembly checkpotrong>introng>t signaltrong>introng>g; and protetrong>introng> localization to chromosome, centromeric region. Located trong>introng> centrosome; nucleoplasm; and sptrong>introng>dle. [provided by Alliance of Genome Resources, Mar 2025]

GSG1 Gene

germ cell associated 1

Predicted to enable RNA polymerase btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> endoplasmic reticulum membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV6 Gene

T cell receptor gamma variable 6 (pseudogene)

TRGV7 Gene

T cell receptor gamma variable 7 (pseudogene)

TRGV4 Gene

T cell receptor gamma variable 4

Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV5 Gene

T cell receptor gamma variable 5

Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV2 Gene

T cell receptor gamma variable 2

Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV3 Gene

T cell receptor gamma variable 3

Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV1 Gene

T cell receptor gamma variable 1 (non-functional)

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV8 Gene

T cell receptor gamma variable 8

Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGV9 Gene

T cell receptor gamma variable 9

Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGVB Gene

T cell receptor gamma variable B (pseudogene)

TRGVA Gene

T cell receptor gamma variable A (pseudogene)

TRAT1 Gene

T cell receptor associated transmembrane adaptor 1

Predicted to enable transmembrane receptor protetrong>introng> tyrostrong>introng>e ktrong>introng>ase adaptor activity. Acts upstream of or withtrong>introng> negative regulation of receptor recycltrong>introng>g; negative regulation of transport; and positive regulation of signal transduction. Located trong>introng> centriolar satellite; mitotic sptrong>introng>dle; and plasma membrane. Part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

KIR2DL5B Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, long cytoplasmic tail, 5B

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL5A Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, long cytoplasmic tail, 5A

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

TRAJ58 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 58 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ56 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 56

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ57 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 57

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ54 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 54

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

PECAM1 Gene

platelet/endothelial cell adhesion molecule 1

The protetrong>introng> encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell trong>introng>tercellular junctions. The encoded protetrong>introng> is a member of the immunoglobultrong>introng> superfamily and is likely trong>introng>volved trong>introng> leukocyte migration, angiogenesis, and trong>introng>tegrtrong>introng> activation. [provided by RefSeq, May 2010]

TAL1 Gene

T-cell acute lymphocytic leukemia 1

Enables several functions, trong>introng>cludtrong>introng>g E-box btrong>introng>dtrong>introng>g activity; RNA polymerase II-specific DNA-btrong>introng>dtrong>introng>g transcription factor btrong>introng>dtrong>introng>g activity; and histone deacetylase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g myeloid cell differentiation; positive regulation of cellular component organization; and positive regulation of erythrocyte differentiation. Located trong>introng> chromattrong>introng> and nucleoplasm. Part of transcription regulator complex. Implicated trong>introng> acute lymphoblastic leukemia. [provided by Alliance of Genome Resources, Mar 2025]

TAL2 Gene

T-cell acute lymphocytic leukemia 2

This trong>introng>tronless gene encodes a helix-loop-helix protetrong>introng>. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chatrong>introng> locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]

TRAV26-1 Gene

T cell receptor alpha variable 26-1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV26-2 Gene

T cell receptor alpha variable 26-2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRBV22-1 Gene

T cell receptor beta variable 22-1 (pseudogene)

TRAV9-1 Gene

T cell receptor alpha variable 9-1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV9-2 Gene

T cell receptor alpha variable 9-2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

CDCA4P2 Gene

cell division cycle associated 4 pseudogene 2

PBX2P1 Gene

pre-B-cell leukemia homeobox 2 pseudogene 1

TLX1 Gene

T-cell leukemia homeobox 1

This gene encodes a nuclear transcription factor that belongs to the NK-ltrong>introng>ked or NK-like (NKL) subfamily of homeobox genes. The encoded protetrong>introng> is required for normal development of the spleen durtrong>introng>g embryogenesis. This protetrong>introng> is also trong>introng>volved trong>introng> specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certatrong>introng> T-cell acute lymphoblastic leukemias. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2010]

TLX2 Gene

T-cell leukemia homeobox 2

This gene is a member of an orphan homeobox-contatrong>introng>trong>introng>g transcription factor family. Studies of the mouse ortholog have shown that the encoded protetrong>introng> is crucial for the development of the enteric nervous system; trong>introng> humans, loss-of-function may play a role trong>introng> tumorigenesis of gastrotrong>introng>testtrong>introng>al stromal tumors. [provided by RefSeq, May 2010]

TLX3 Gene

T-cell leukemia homeobox 3

The protetrong>introng> encoded by this gene is an orphan homeobox protetrong>introng> that encodes a DNA-btrong>introng>dtrong>introng>g nuclear transcription factor. A translocation [t(5;14)(q35;q32)] trong>introng>volvtrong>introng>g this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) trong>introng> children and young adults. [provided by RefSeq, Nov 2015]

CDC37P1 Gene

cell division cycle 37 pseudogene 1

CDC37P2 Gene

cell division cycle 37 pseudogene 2

BCL7C Gene

B-cell CLL/lymphoma 7C

This gene is identified by the similarity of its product to the N-termtrong>introng>al region of BCL7A protetrong>introng>. The BCL7A protetrong>introng> is encoded by the gene known to be directly trong>introng>volved trong>introng> a three-way gene translocation trong>introng> a Burkitt lymphoma cell ltrong>introng>e. The function of this gene has not yet been determtrong>introng>ed. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

BCL7B Gene

B-cell CLL/lymphoma 7B

This gene encodes a member of the BCL7 family trong>introng>cludtrong>introng>g BCL7A, BCL7B and BCL7C protetrong>introng>s. This member is BCL7B, which contatrong>introng>s a region that is highly similar to the N-termtrong>introng>al segment of BCL7A or BCL7C protetrong>introng>s. The BCL7A protetrong>introng> is encoded by the gene known to be directly trong>introng>volved trong>introng> a three-way gene translocation trong>introng> a Burkitt lymphoma cell ltrong>introng>e. This gene is located at a chromosomal region commonly deleted trong>introng> Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]

BCL7A Gene

B-cell CLL/lymphoma 7A

This gene is directly trong>introng>volved, with Myc and IgH, trong>introng> a three-way gene translocation trong>introng> a Burkitt lymphoma cell ltrong>introng>e. As a result of the gene translocation, the N-termtrong>introng>al region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgktrong>introng> lymphoma. The N-termtrong>introng>al segment trong>introng>volved trong>introng> the translocation trong>introng>cludes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

BTG1P1 Gene

B-cell translocation gene 1 pseudogene 1

MSE Gene

myeltrong>introng>attrong>introng>g Schwann cell element

GDNF Gene

glial cell derived neurotrophic factor

This gene encodes a secreted ligand of the TGF-beta (transformtrong>introng>g growth factor-beta) superfamily of protetrong>introng>s. Ligands of this family btrong>introng>d various TGF-beta receptors leadtrong>introng>g to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotetrong>introng> is proteolytically processed to generate each subunit of the disulfide-ltrong>introng>ked homodimer. The recombtrong>introng>ant form of this protetrong>introng>, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopamtrong>introng>ergic neurons trong>introng> culture, and was able to prevent apoptosis of motor neurons trong>introng>duced by axotomy. This protetrong>introng> is a ligand for the product of the RET (rearranged durtrong>introng>g transfection) protooncogene. Mutations trong>introng> this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protetrong>introng> isoforms that may undergo similar proteolytic processtrong>introng>g. [provided by RefSeq, Aug 2016]

CDC45 Gene

cell division cycle 45

The protetrong>introng> encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protetrong>introng> required to the trong>introng>itiation of DNA replication. Cdc45 is a member of the highly conserved multiprotetrong>introng> complex trong>introng>cludtrong>introng>g Cdc6/Cdc18, the mtrong>introng>ichromosome matrong>introng>tenance protetrong>introng>s (MCMs) and DNA polymerase, which is important for early steps of DNA replication trong>introng> eukaryotes. This protetrong>introng> has been shown to trong>introng>teract with MCM7 and DNA polymerase alpha. Studies of the similar gene trong>introng> Xenopus suggested that this protetrong>introng> play a pivotal role trong>introng> the loadtrong>introng>g of DNA polymerase alpha onto chromattrong>introng>. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]

CDC40 Gene

cell division cycle 40

Pre-mRNA splictrong>introng>g occurs trong>introng> two sequential transesterification steps. The protetrong>introng> encoded by this gene is found to be essential for the catalytic step II trong>introng> pre-mRNA splictrong>introng>g process. It is found trong>introng> the spliceosome, and contatrong>introng>s seven WD repeats, which function trong>introng> protetrong>introng>-protetrong>introng> trong>introng>teractions. This protetrong>introng> has a sequence similarity to yeast Prp17 protetrong>introng>, which functions trong>introng> two different cellular processes: pre-mRNA splictrong>introng>g and cell cycle progression. It suggests that this protetrong>introng> may play a role trong>introng> cell cycle progression. [provided by RefSeq, Jul 2008]

CDC42 Gene

cell division cycle 42

The protetrong>introng> encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaltrong>introng>g pathways that control diverse cellular functions trong>introng>cludtrong>introng>g cell morphology, migration, endocytosis and cell cycle progression. This protetrong>introng> is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protetrong>introng>. This protetrong>introng> could regulate acttrong>introng> polymerization through its direct btrong>introng>dtrong>introng>g to Neural Wiskott-Aldrich syndrome protetrong>introng> (N-WASP), which subsequently activates Arp2/3 complex. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]

TCL1B Gene

T-cell leukemia/lymphoma 1B

Enables protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity and protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activator activity. trong>Introng>volved trong>introng> trong>introng>tracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

TCL1A Gene

T-cell leukemia/lymphoma 1A

Overexpression of the TCL1 gene trong>introng> humans has been implicated trong>introng> the development of mature T cell leukemia, trong>introng> which chromosomal rearrangements brtrong>introng>g the TCL1 gene trong>introng> close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). trong>Introng> normal T cells TCL1 is expressed trong>introng> CD4-/CD8- cells, but not trong>introng> cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival ktrong>introng>ase AKT (MIM 164730) (Latrong>introng>e et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]

SPDYE13P Gene

speedy/RINGO cell cycle regulator family member E13, pseudogene

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

TRBV11-2 Gene

T cell receptor beta variable 11-2

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC105379662 Gene

killer cell immunoglobultrong>introng>-like receptor 2DS1

LOC442172 Gene

cell division cycle associated 7 pseudogene

SPDYE21P Gene

speedy/RINGO cell cycle regulator family member E21, pseudogene

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

ELMO2P1 Gene

engulfment and cell motility 2 pseudogene 1

LOC100421663 Gene

cutaneous T-cell lymphoma-associated antigen 1 pseudogene

LOC651644 Gene

LIM and senescent cell antigen-like domatrong>introng>s 2 pseudogene

INTU Gene

trong>introng>turned planar cell polarity protetrong>introng>

Predicted to enable phosphatidyltrong>introng>ositol btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located trong>introng> ciliary basal body and motile cilium. Implicated trong>introng> asphyxiattrong>introng>g thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Mar 2025]

LOC100129672 Gene

cell adhesion associated, oncogene regulated pseudogene

TIAM1 Gene

T-cell lymphoma trong>introng>vasion and metastasis 1

This gene encodes a RAC1-specific guantrong>introng>e nucleotide exchange factor (GEF). GEFs mediate the exchange of guanostrong>introng>e diphosphate (GDP) for guanostrong>introng>e triphosphate (GTP). The btrong>introng>dtrong>introng>g of GTP trong>introng>duces a conformational change trong>introng> RAC1 that allows downstream effectors to btrong>introng>d and transduce a signal. This gene thus regulates RAC1 signaltrong>introng>g pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as trong>introng>fluenctrong>introng>g acttrong>introng> cytoskeletal formation, endocytosis, and membrane trafficktrong>introng>g. This gene thus plays an important role trong>introng> cell trong>introng>vasion, metastasis, and carctrong>introng>ogenesis. trong>Introng> addition to RAC1, the encoded protetrong>introng> activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protetrong>introng> isoforms that experience a diverse array of trong>introng>tramolecular, protetrong>introng>-protetrong>introng>, and phosphorylation trong>introng>teractions as well as phosphotrong>introng>ositide btrong>introng>dtrong>introng>g. Both the longer and shorter isoforms have C-termtrong>introng>al Dbl homology (DH) and pleckstrtrong>introng> homology (PH) domatrong>introng>s while only the longer isoforms of this gene have the N-termtrong>introng>al myristoylation site and the downstream N-termtrong>introng>al PH domatrong>introng>, ras-btrong>introng>dtrong>introng>g domatrong>introng> (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domatrong>introng>. [provided by RefSeq, Jul 2017]

TIAM2 Gene

T-cell lymphoma trong>introng>vasion and metastasis 2

This gene encodes a guantrong>introng>e nucleotide exchange factor. A highly similar mouse protetrong>introng> specifically activates ras-related C3 botultrong>introng>um substrate 1, converttrong>introng>g this Rho-like guanostrong>introng>e triphosphatase (GTPase) from a guanostrong>introng>e diphosphate-bound trong>introng>active state to a guanostrong>introng>e triphosphate-bound active state. The encoded protetrong>introng> may play a role trong>introng> neural cell development. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Jul 2008]

TRBV4-2 Gene

T cell receptor beta variable 4-2

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV4-3 Gene

T cell receptor beta variable 4-3

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV4-1 Gene

T cell receptor beta variable 4-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SART1 Gene

squamous cell carctrong>introng>oma antigen recognized by T cells

This gene encodes two protetrong>introng>s, the SART1(800) protetrong>introng> expressed trong>introng> the nucleus of the majority of proliferattrong>introng>g cells, and the SART1(259) protetrong>introng> expressed trong>introng> the cytosol of epithelial cancers. The SART1(259) protetrong>introng> is translated by the mechanism of -1 frameshifttrong>introng>g durtrong>introng>g posttranscriptional regulation; its full-length sequence is not published yet. The two encoded protetrong>introng>s are thought to be trong>introng>volved trong>introng> the regulation of proliferation. Both protetrong>introng>s have tumor-rejection antigens. The SART1(259) protetrong>introng> possesses tumor epitopes capable of trong>introng>ductrong>introng>g HLA-A2402-restricted cytotoxic T lymphocytes trong>introng> cancer patients. This SART1(259) antigen may be useful trong>introng> specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protetrong>introng> is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome trong>introng> the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]

TRAJ61 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 61 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ60 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 60 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

CDC14BL Gene

CDC14 cell division cycle 14 C-like

TRAV18 Gene

T cell receptor alpha variable 18

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV19 Gene

T cell receptor alpha variable 19

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV10 Gene

T cell receptor alpha variable 10

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV11 Gene

T cell receptor alpha variable 11 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV16 Gene

T cell receptor alpha variable 16

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV17 Gene

T cell receptor alpha variable 17

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV15 Gene

T cell receptor alpha variable 15 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

SPDYE4 Gene

speedy/RINGO cell cycle regulator family member E4

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

TRAV8-1 Gene

T cell receptor alpha variable 8-1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV8-3 Gene

T cell receptor alpha variable 8-3

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV8-2 Gene

T cell receptor alpha variable 8-2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV8-5 Gene

T cell receptor alpha variable 8-5 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV8-4 Gene

T cell receptor alpha variable 8-4

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV8-7 Gene

T cell receptor alpha variable 8-7 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV8-6 Gene

T cell receptor alpha variable 8-6

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRBV5-7 Gene

T cell receptor beta variable 5-7 (non-functional)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV5-6 Gene

T cell receptor beta variable 5-6

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV5-5 Gene

T cell receptor beta variable 5-5

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV5-4 Gene

T cell receptor beta variable 5-4

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV5-3 Gene

T cell receptor beta variable 5-3 (non-functional)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV5-2 Gene

T cell receptor beta variable 5-2 (pseudogene)

TRBV5-1 Gene

T cell receptor beta variable 5-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV5-8 Gene

T cell receptor beta variable 5-8

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

BCL9P1 Gene

B-cell CLL/lymphoma 9 pseudogene 1

TCF7L1 Gene

transcription factor 7-like 1 (T-cell specific, HMG-box)

This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catentrong>introng>, mediate the Wnt signaltrong>introng>g pathway and are antagonized by the transformtrong>introng>g growth factor beta signaltrong>introng>g pathway. The encoded protetrong>introng> contatrong>introng>s a high mobility group-box DNA btrong>introng>dtrong>introng>g domatrong>introng> and participates trong>introng> the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]

TCF7L2 Gene

transcription factor 7-like 2 (T-cell specific, HMG-box)

This gene encodes a high mobility group (HMG) box-contatrong>introng>trong>introng>g transcription factor that plays a key role trong>introng> the Wnt signaltrong>introng>g pathway. The protetrong>introng> has been implicated trong>introng> blood glucose homeostasis. Genetic variants of this gene are associated with trong>trong>introng>creasetrong>d risk of type 2 diabetes. Several transcript variants encodtrong>introng>g multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

TRAC Gene

T cell receptor alpha constant

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

CDC123 Gene

cell division cycle 123

Enables ATP btrong>introng>dtrong>introng>g activity and magnesium ion btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> eukaryotic translation trong>introng>itiation factor 2 complex assembly. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

KLRD1 Gene

killer cell lecttrong>introng>-like receptor subfamily D, member 1

Natural killer (NK) cells are a disttrong>introng>ct ltrong>introng>eage of lymphocytes that mediate cytotoxic activity and secrete cytoktrong>introng>es upon immune stimulation. Several genes of the C-type lecttrong>introng> superfamily, trong>introng>cludtrong>introng>g members of the NKG2 family, are expressed by NK cells and may be trong>introng>volved trong>introng> the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protetrong>introng> because it has an external C termtrong>introng>us. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2017]

ELMO1 Gene

engulfment and cell motility 1

This gene encodes a member of the engulfment and cell motility protetrong>introng> family. These protetrong>introng>s trong>introng>teract with dedicator of cytoktrong>introng>esis protetrong>introng>s to promote phagocytosis and cell migration. trong>trong>Introng>creasetrong>d expression of this gene and dedicator of cytoktrong>introng>esis 1 may promote glioma cell trong>introng>vasion, and strong>introng>gle nucleotide polymorphisms trong>introng> this gene may be associated with diabetic nephropathy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2013]

ELMO2 Gene

engulfment and cell motility 2

The protetrong>introng> encoded by this gene trong>introng>teracts with the dedicator of cyto-ktrong>introng>esis 1 protetrong>introng>. Similarity to a C. elegans protetrong>introng> suggests that this protetrong>introng> may function trong>introng> phagocytosis of apoptotic cells and trong>introng> cell migration. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2015]

ELMO3 Gene

engulfment and cell motility 3

The protetrong>introng> encoded by this gene is similar to a C. elegans protetrong>introng> that functions trong>introng> phagocytosis of apoptotic cells and trong>introng> cell migration. Other members of this small family of engulfment and cell motility (ELMO) protetrong>introng>s have been shown to trong>introng>teract with the dedicator of cyto-ktrong>introng>esis 1 protetrong>introng> to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]

CCPG1 Gene

cell cycle progression 1

trong>Introng>volved trong>introng> positive regulation of cell cycle and positive regulation of cell population proliferation. Predicted to be active trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]

MILR1 Gene

mast cell immunoglobultrong>introng>-like receptor 1

Predicted to enable transmembrane signaltrong>introng>g receptor activity. Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ECSCR Gene

endothelial cell surface expressed chemotaxis and apoptosis regulator

The protetrong>introng> encoded by this gene is primarily found trong>introng> endothelial cells and blood vessels, where it is trong>introng>volved trong>introng> cell shape changes and EGF-trong>introng>duced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/ktrong>introng>ase trong>introng>sert domatrong>introng> receptor and also promote the proteolysis of trong>introng>ternalized ktrong>introng>ase trong>introng>sert domatrong>introng> receptor. This gene may play a role trong>introng> angiogenesis-related diseases. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2014]

PDCD2L Gene

programmed cell death 2-like

Predicted to be trong>introng>volved trong>introng> apoptotic process. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]

DCANP1 Gene

dendritic cell-associated nuclear protetrong>introng>

This trong>introng>tronless gene is specifically expressed trong>introng> dendritic cells (DCs), which are potent antigen-presenttrong>introng>g cells trong>introng>volved trong>introng> activattrong>introng>g naive T cells to trong>introng>itiate antigen-specific immune response. The encoded protetrong>introng> is localized matrong>introng>ly trong>introng> the pertrong>introng>ucleus. One of the alleles (A/T) of this gene, that causes premature translation termtrong>introng>ation at aa 117, has been associated with an trong>trong>introng>creasetrong>d prevalence of major depression trong>introng> humans. [provided by RefSeq, Jul 2008]

MUC1 Gene

muctrong>introng> 1, cell surface associated

This gene encodes a membrane-bound protetrong>introng> that is a member of the muctrong>introng> family. Muctrong>introng>s are O-glycosylated protetrong>introng>s that play an essential role trong>introng> formtrong>introng>g protective mucous barriers on epithelial surfaces. These protetrong>introng>s also play a role trong>introng> trong>introng>tracellular signaltrong>introng>g. This protetrong>introng> is expressed on the apical surface of epithelial cells that ltrong>introng>e the mucosal surfaces of many different tissues trong>introng>cludtrong>introng>g lung, breast stomach and pancreas. This protetrong>introng> is proteolytically cleaved trong>introng>to alpha and beta subunits that form a heterodimeric complex. The N-termtrong>introng>al alpha subunit functions trong>introng> cell-adhesion and the C-termtrong>introng>al beta subunit is trong>introng>volved trong>introng> cell signaltrong>introng>g. Overexpression, aberrant trong>introng>tracellular localization, and changes trong>introng> glycosylation of this protetrong>introng> have been associated with carctrong>introng>omas. This gene is known to contatrong>introng> a highly polymorphic variable number tandem repeats (VNTR) domatrong>introng>. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Feb 2011]

CDCA4P4 Gene

cell division cycle associated 4 pseudogene 4

CDCA4P1 Gene

cell division cycle associated 4 pseudogene 1

CDCA4P3 Gene

cell division cycle associated 4 pseudogene 3

SPDYE22P Gene

speedy/RINGO cell cycle regulator family member E22, pseudogene

LOC100286895 Gene

cell division cycle 27 homolog pseudogene

TRBD2 Gene

T cell receptor beta diversity 2

KLRK1 Gene

killer cell lecttrong>introng>-like receptor subfamily K, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. The NKG2 gene family is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed trong>introng> NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protetrong>introng> is characterized by a type II membrane orientation (has an extracellular C termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. It btrong>introng>ds to a diverse family of ligands that trong>introng>clude MHC class I chatrong>introng>-related A and B protetrong>introng>s and UL-16 btrong>introng>dtrong>introng>g protetrong>introng>s, where ligand-receptor trong>introng>teractions can result trong>introng> the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protetrong>introng> and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lecttrong>introng>-like receptor subfamily C, member 4) family member trong>introng> the same cluster. [provided by RefSeq, Dec 2010]

BCC1 Gene

Basal cell carctrong>introng>oma, susceptibility to, 1

BCC2 Gene

Basal cell carctrong>introng>oma, susceptibility to, 2

BCC3 Gene

Basal cell carctrong>introng>oma, susceptibility to, 3

METRNL Gene

meteortrong>introng>, glial cell differentiation regulator-like

Predicted to enable hormone activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g brown fat cell differentiation; positive regulation of brown fat cell differentiation; and response to muscle activity. Located trong>introng> extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

VANGL2 Gene

VANGL planar cell polarity protetrong>introng> 2

The protetrong>introng> encoded by this gene is a membrane protetrong>introng> trong>introng>volved trong>introng> the regulation of planar cell polarity, especially trong>introng> the stereociliary bundles of the cochlea. The encoded protetrong>introng> transmits directional signals to trong>introng>dividual cells or groups of cells trong>introng> epithelial sheets. This protetrong>introng> is also trong>introng>volved trong>introng> the development of the neural plate. [provided by RefSeq, Sep 2011]

TRBV8-2 Gene

T cell receptor beta variable 8-2 (pseudogene)

TRBV8-1 Gene

T cell receptor beta variable 8-1 (pseudogene)

TRBV26OR9-2 Gene

T cell receptor beta variable 26/OR9-2 (pseudogene)

LOC728739 Gene

programmed cell death 2 pseudogene

TRA Gene

T cell receptor alpha locus

Enables signaltrong>introng>g receptor activity. Contributes to peptide antigen btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> T cell activation trong>introng>volved trong>introng> immune response; T cell mediated cytotoxicity directed agatrong>introng>st tumor cell target; and detection of tumor cell. Located trong>introng> cell surface. Part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRB Gene

T cell receptor beta locus

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor beta locus. The beta locus trong>introng>cludes V (variable), J (jotrong>introng>trong>introng>g), diversity (D), and C (constant) segments. Durtrong>introng>g T cell development, the beta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. The beta locus also trong>introng>cludes eight trypstrong>introng>ogen genes, three of which encode functional protetrong>introng>s and five of which are pseudogenes. Chromosomal abnormalities trong>introng>volvtrong>introng>g the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]

TRD Gene

T cell receptor delta locus

TRG Gene

T cell receptor gamma locus

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor gamma locus. The gamma locus trong>introng>cludes V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments. Durtrong>introng>g T cell development, the gamma chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a V segment with a J segment; the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random addition of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed trong>introng> T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]

CDC42P4 Gene

cell division cycle 42 pseudogene 4

CDC42P6 Gene

cell division cycle 42 pseudogene 6

CDC42P1 Gene

cell division cycle 42 pseudogene 1

CDC42P2 Gene

cell division cycle 42 pseudogene 2

LOC100421630 Gene

cutaneous T-cell lymphoma-associated antigen 1 pseudogene

CEND1P1 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 1

CEND1P2 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 2

ECT2 Gene

epithelial cell transformtrong>introng>g 2

The protetrong>introng> encoded by this gene is a guantrong>introng>e nucleotide exchange factor and transformtrong>introng>g protetrong>introng> that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and rematrong>introng>s elevated durtrong>introng>g G2 and M phases. trong>Introng> situ hybridization analysis showed that expression is at a high level trong>introng> cells undergotrong>introng>g mitosis trong>introng> regenerattrong>introng>g liver. Thus, this protetrong>introng> is expressed trong>introng> a cell cycle-dependent manner durtrong>introng>g liver regeneration, and is thought to have an important role trong>introng> the regulation of cytoktrong>introng>esis. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]

TRDJ4 Gene

T cell receptor delta jotrong>introng>trong>introng>g 4

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRDJ1 Gene

T cell receptor delta jotrong>introng>trong>introng>g 1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRDJ3 Gene

T cell receptor delta jotrong>introng>trong>introng>g 3

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRDJ2 Gene

T cell receptor delta jotrong>introng>trong>introng>g 2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

SPDYE14P Gene

speedy/RINGO cell cycle regulator family member E14, pseudogene

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

KLRC1 Gene

killer cell lecttrong>introng>-like receptor subfamily C, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protetrong>introng> encoded by this gene belongs to the killer cell lecttrong>introng>-like receptor family, also called NKG2 family, which is a group of transmembrane protetrong>introng>s preferentially expressed trong>introng> NK cells. This family of protetrong>introng>s is characterized by the type II membrane orientation and the presence of a C-type lecttrong>introng> domatrong>introng>. This protetrong>introng> forms a complex with another family member, KLRD1/CD94, and has been implicated trong>introng> the recognition of the MHC class I HLA-E molecules trong>introng> NK cells. The genes of NKG2 family members form a killer cell lecttrong>introng>-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been observed. [provided by RefSeq, Jan 2015]

KLRC3 Gene

killer cell lecttrong>introng>-like receptor subfamily C, member 3

Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily trong>introng> natural killer (NK) cells and encodes a family of transmembrane protetrong>introng>s characterized by a type II membrane orientation (extracellular C termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. The NKG2 gene family is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed on NK cells. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]

KLRC2 Gene

killer cell lecttrong>introng>-like receptor subfamily C, member 2

Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily trong>introng> natural killer (NK) cells and encodes a family of transmembrane protetrong>introng>s characterized by a type II membrane orientation (extracellular C termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. The KLRC (NKG2) gene family is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]

KLRC4 Gene

killer cell lecttrong>introng>-like receptor subfamily C, member 4

Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily trong>introng> natural killer (NK) cells. These family members encode transmembrane protetrong>introng>s that are characterized by a type II membrane orientation (have an extracellular C-termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. This family member is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed trong>introng> NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lecttrong>introng>-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]

MALL Gene

mal, T-cell differentiation protetrong>introng>-like

This gene encodes an element of the machtrong>introng>ery for raft-mediated trafficktrong>introng>g trong>introng> endothelial cells. The encoded protetrong>introng>, a member of the MAL proteolipid family, predomtrong>introng>antly localizes trong>introng> glycolipid- and cholesterol-enriched membrane (GEM) rafts. It trong>introng>teracts with caveoltrong>introng>-1. [provided by RefSeq, Jul 2008]

MAL2 Gene

mal, T-cell differentiation protetrong>introng> 2 (gene/pseudogene)

This gene encodes a multispan transmembrane protetrong>introng> belongtrong>introng>g to the MAL proteolipid family. The protetrong>introng> is a component of lipid rafts and, trong>introng> polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an trong>introng>tracellular transport pathway used to deliver membrane-bound protetrong>introng>s and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]

MCF2L Gene

MCF.2 cell ltrong>introng>e derived transformtrong>introng>g sequence-like

This gene encodes a guantrong>introng>e nucleotide exchange factor that trong>introng>teracts specifically with the GTP-bound Rac1 and plays a role trong>introng> the Rho/Rac signaltrong>introng>g pathways. A variant trong>introng> this gene was associated with osteoarthritis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2016]

LOC100422369 Gene

par-6 family cell polarity regulator beta pseudogene

TRBJ1-6 Gene

T cell receptor beta jotrong>introng>trong>introng>g 1-6

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ1-5 Gene

T cell receptor beta jotrong>introng>trong>introng>g 1-5

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ1-4 Gene

T cell receptor beta jotrong>introng>trong>introng>g 1-4

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ1-3 Gene

T cell receptor beta jotrong>introng>trong>introng>g 1-3

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ1-2 Gene

T cell receptor beta jotrong>introng>trong>introng>g 1-2

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBJ1-1 Gene

T cell receptor beta jotrong>introng>trong>introng>g 1-1

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC105376731 Gene

taste receptor cell protetrong>introng> 1-like

ZER1 Gene

zyg-11 related, cell cycle regulator

This gene encodes a subunit of an E3 ubiquittrong>introng> ligase complex that may be trong>introng>volved trong>introng> meiosis. The encoded protetrong>introng> contatrong>introng>s three leuctrong>introng>e-rich repeat motifs. [provided by RefSeq, Nov 2012]

LOC100288590 Gene

cutaneous T-cell lymphoma-associated antigen 1 pseudogene

TRBV23-1 Gene

T cell receptor beta variable 23-1 (non-functional)

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be located trong>introng> immunological synapse. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100967224 Gene

neuroepithelial cell transformtrong>introng>g 1 pseudogene

LOC100967223 Gene

neuroepithelial cell transformtrong>introng>g 1 pseudogene

TRAJ59 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 59 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ52 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 52

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ53 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 53

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ50 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 50

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ51 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 51 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ55 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 55 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

BAD Gene

BCL2-associated agonist of cell death

The protetrong>introng> encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protetrong>introng> positively regulates cell apoptosis by formtrong>introng>g heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reverstrong>introng>g their death repressor activity. Proapoptotic activity of this protetrong>introng> is regulated through its phosphorylation. Protetrong>introng> ktrong>introng>ases AKT and MAP ktrong>introng>ase, as well as protetrong>introng> phosphatase calctrong>introng>eurtrong>introng> were found to be trong>introng>volved trong>introng> the regulation of this protetrong>introng>. Alternative splictrong>introng>g of this gene results trong>introng> two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]

TRAV41 Gene

T cell receptor alpha variable 41

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV40 Gene

T cell receptor alpha variable 40

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

HCFC2P1 Gene

host cell factor C2 pseudogene 1

MCEMP1 Gene

mast cell-expressed membrane protetrong>introng> 1

This gene encodes a strong>introng>gle-pass transmembrane protetrong>introng>. Based on its expression pattern, it is speculated to be trong>introng>volved trong>introng> regulattrong>introng>g mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]

CDC16 Gene

cell division cycle 16

The protetrong>introng> encoded by this gene functions as a protetrong>introng> ubiquittrong>introng> ligase and is a component of the multiprotetrong>introng> APC complex. The APC complex is a cycltrong>introng> degradation system that governs exit from mitosis by targettrong>introng>g cell cycle protetrong>introng>s for degredation by the 26S proteasome. Each component protetrong>introng> of the APC complex is highly conserved among eukaryotic organisms. This protetrong>introng>, and other APC complex protetrong>introng>s, contatrong>introng> a tetratricopeptide repeat (TPR) domatrong>introng>; a protetrong>introng> domatrong>introng> that is often trong>introng>volved trong>introng> protetrong>introng>-protetrong>introng> trong>introng>teractions and the assembly of multiprotetrong>introng> complexes. Multiple alternatively spliced transcript variants, encodtrong>introng>g disttrong>introng>ct protetrong>introng>s, have been identified. [provided by RefSeq, Jan 2016]

BCAP29 Gene

B-cell receptor-associated protetrong>introng> 29

trong>Introng>volved trong>introng> osteoblast differentiation. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]

ECT2L Gene

epithelial cell transformtrong>introng>g 2 like

Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE9P Gene

speedy/RINGO cell cycle regulator family member E9, pseudogene

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE5 Gene

speedy/RINGO cell cycle regulator family member E5

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> positive regulation of cycltrong>introng>-dependent protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE6 Gene

speedy/RINGO cell cycle regulator family member E6

This gene encodes a cell cycle regulatory protetrong>introng> which plays an important role trong>introng> cell cycle progression by btrong>introng>dtrong>introng>g and activattrong>introng>g cycltrong>introng>-dependent ktrong>introng>ases. The encoded protetrong>introng> belongs to a family of cycltrong>introng>-dependent ktrong>introng>ase regulators that contatrong>introng> a speedy box domatrong>introng> which is required for cycltrong>introng>-dependent ktrong>introng>ase activation. [provided by RefSeq, Jul 2017]

SPDYE1 Gene

speedy/RINGO cell cycle regulator family member E1

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]

SPDYE3 Gene

speedy/RINGO cell cycle regulator family member E3

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE2 Gene

speedy/RINGO cell cycle regulator family member E2

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

ERAS Gene

ES cell expressed Ras

This gene encodes a constitutively active member of the small GTPase Ras protetrong>introng> family. The encoded protetrong>introng> activates the phosphatidyltrong>introng>ositol 3-ktrong>introng>ase signal transduction pathway trong>introng> undifferentiated stem cells, but is not expressed trong>introng> differentiated cells. This gene may be trong>introng>volved trong>introng> cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012]

TGCT1 Gene

testicular germ cell tumor susceptibility 1

ICA1 Gene

islet cell autoantigen 1, 69kDa

This gene encodes a protetrong>introng> with an arfapttrong>introng> homology domatrong>introng> that is found both trong>introng> the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protetrong>introng> is believed to be an autoantigen trong>introng> trong>introng>sultrong>introng>-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

LOC100420644 Gene

cell division cycle associated 8 pseudogene

CDC6 Gene

cell division cycle 6

The protetrong>introng> encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protetrong>introng> essential for the trong>introng>itiation of DNA replication. This protetrong>introng> functions as a regulator at the early steps of DNA replication. It localizes trong>introng> cell nucleus durtrong>introng>g cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protetrong>introng> durtrong>introng>g cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protetrong>introng> was reported to be regulated trong>introng> response to mitogenic signals through transcriptional control mechanism trong>introng>volvtrong>introng>g E2F protetrong>introng>s. [provided by RefSeq, Jul 2008]

CDC7 Gene

cell division cycle 7

This gene encodes a cell division cycle protetrong>introng> with ktrong>introng>ase activity that is critical for the G1/S transition. The yeast homolog is also essential for trong>introng>itiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protetrong>introng> have been detected. [provided by RefSeq, Aug 2008]

TRAV1-1 Gene

T cell receptor alpha variable 1-1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV1-2 Gene

T cell receptor alpha variable 1-2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

CEACAMP10 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 10

CEACAMP11 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 11

ITK Gene

IL2-trong>introng>ducible T-cell ktrong>introng>ase

This gene encodes an trong>introng>tracellular tyrostrong>introng>e ktrong>introng>ase expressed trong>introng> T-cells. The protetrong>introng> contatrong>introng>s both SH2 and SH3 domatrong>introng>s which are often found trong>introng> trong>introng>tracellular ktrong>introng>ases. It is thought to play a role trong>introng> T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]

BCL9L Gene

B-cell CLL/lymphoma 9-like

Enables beta-catentrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of transformtrong>introng>g growth factor beta receptor signaltrong>introng>g pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located trong>introng> fibrillar center and nucleoplasm. Part of beta-catentrong>introng>-TCF complex. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE18 Gene

speedy/RINGO cell cycle regulator family member E18

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

ESM1 Gene

endothelial cell-specific molecule 1

This gene encodes a secreted protetrong>introng> which is matrong>introng>ly expressed trong>introng> the endothelial cells trong>introng> human lung and kidney tissues. The expression of this gene is regulated by cytoktrong>introng>es, suggesttrong>introng>g that it may play a role trong>introng> endothelium-dependent pathological disorders. The transcript contatrong>introng>s multiple polyadenylation and mRNA trong>introng>stability signals. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

MAK Gene

male germ cell-associated ktrong>introng>ase

The product of this gene is a sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase related to ktrong>introng>ases trong>introng>volved trong>introng> cell cycle regulation. Studies of the mouse and rat homologs have localized the ktrong>introng>ase to the chromosomes durtrong>introng>g meiosis trong>introng> spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations trong>introng> this gene have been associated with ciliary defects resulttrong>introng>g trong>introng> rettrong>introng>itis pigmentosa 62. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2016]

MAL Gene

mal, T-cell differentiation protetrong>introng>

The protetrong>introng> encoded by this gene is a highly hydrophobic trong>introng>tegral membrane protetrong>introng> belongtrong>introng>g to the MAL family of proteolipids. The protetrong>introng> has been localized to the endoplasmic reticulum of T-cells and is a candidate ltrong>introng>ker protetrong>introng> trong>introng> T-cell signal transduction. trong>Introng> addition, this proteolipid is localized trong>introng> compact myeltrong>introng> of cells trong>introng> the nervous system and has been implicated trong>introng> myeltrong>introng> biogenesis and/or function. The protetrong>introng> plays a role trong>introng> the formation, stabilization and matrong>introng>tenance of glycosphtrong>introng>golipid-enriched membrane microdomatrong>introng>s. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splictrong>introng>g produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]

CDC37L1 Gene

cell division cycle 37-like 1

CDC37L1 is a cytoplasmic phosphoprotetrong>introng> that exists trong>introng> complex with HSP90 (HSPCA; MIM 140571) as well as several other protetrong>introng>s trong>introng>volved trong>introng> HSP90-mediated protetrong>introng> foldtrong>introng>g (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]

CEACAMP8 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 8

CEACAMP9 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 9

CEACAMP2 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 2

CEACAMP3 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 3

CEACAMP1 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 1

CEACAMP6 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 6

CEACAMP7 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 7

CEACAMP4 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 4

CEACAMP5 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 5

LOC105369139 Gene

killer cell immunoglobultrong>introng>-like receptor 2DS3

PCNAP3 Gene

proliferattrong>introng>g cell nuclear antigen pseudogene 3

LOC100420949 Gene

neuroepithelial cell transformtrong>introng>g 1 pseudogene

ICOSLG Gene

trong>introng>ducible T-cell co-stimulator ligand

Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity and receptor ligand activity. trong>Introng>volved trong>introng> T follicular helper cell differentiation. Located trong>introng> trong>introng>tracellular membrane-bounded organelle. Is active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

DSCAML1 Gene

Down syndrome cell adhesion molecule like 1

The protetrong>introng> encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is trong>introng>volved trong>introng> neuronal differentiation. The encoded membrane-bound protetrong>introng> localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]

CIDEB Gene

cell death-trong>introng>ductrong>introng>g DFFA-like effector b

Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> lipid droplet fusion and positive regulation of apoptotic process. Acts upstream of or withtrong>introng> apoptotic process. Located trong>introng> cytosol and pertrong>introng>uclear region of cytoplasm. Is active trong>introng> lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]

CEACAM22P Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 22, pseudogene

TP250 Gene

T-cell activation antigen p250

MCF2L2 Gene

MCF.2 cell ltrong>introng>e derived transformtrong>introng>g sequence-like 2

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be located trong>introng> cytosol. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CGREF1 Gene

cell growth regulator with EF-hand domatrong>introng> 1

Predicted to enable calcium ion btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of cell population proliferation. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

LOC651714 Gene

muctrong>introng> 20, cell surface associated pseudogene

BCL10 Gene

B-cell CLL/lymphoma 10

This gene was identified by its translocation trong>introng> a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protetrong>introng> encoded by this gene contatrong>introng>s a caspase recruitment domatrong>introng> (CARD), and has been shown to trong>introng>duce apoptosis and to activate NF-kappaB. This protetrong>introng> is reported to trong>introng>teract with other CARD domatrong>introng> contatrong>introng>trong>introng>g protetrong>introng>s trong>introng>cludtrong>introng>g CARD9, 10, 11 and 14, which are thought to function as upstream regulators trong>introng> NF-kappaB signaltrong>introng>g. This protetrong>introng> is found to form a complex with MALT1, a protetrong>introng> encoded by another gene known to be translocated trong>introng> MALT lymphoma. MALT1 and this protetrong>introng> are thought to synergize trong>introng> the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2016]

L1CAM Gene

L1 cell adhesion molecule

The protetrong>introng> encoded by this gene is an axonal glycoprotetrong>introng> belongtrong>introng>g to the immunoglobultrong>introng> supergene family. The ectodomatrong>introng>, consisttrong>introng>g of several immunoglobultrong>introng>-like domatrong>introng>s and fibronecttrong>introng>-like repeats (type III), is ltrong>introng>ked via a strong>introng>gle transmembrane sequence to a conserved cytoplasmic domatrong>introng>. This cell adhesion molecule plays an important role trong>introng> nervous system development, trong>introng>cludtrong>introng>g neuronal migration and differentiation. Mutations trong>introng> the gene cause X-ltrong>introng>ked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants, some of which trong>introng>clude an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]

TS546 Gene

Temperature sensitivity complementation, cell cycle specific

TRBV27 Gene

T cell receptor beta variable 27

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRAV38-1 Gene

T cell receptor alpha variable 38-1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

CAPRIN1 Gene

cell cycle associated protetrong>introng> 1

Enables several functions, trong>introng>cludtrong>introng>g ATP btrong>introng>dtrong>introng>g activity; molecular condensate scaffold activity; and signaltrong>introng>g adaptor activity. trong>Introng>volved trong>introng> membraneless organelle assembly; positive regulation of stress granule assembly; and regulation of gene expression. Located trong>introng> cell leadtrong>introng>g edge and cytosol. Is active trong>introng> trong>introng>tracellular membraneless organelle. [provided by Alliance of Genome Resources, Mar 2025]

ESRG Gene

embryonic stem cell related (non-protetrong>introng> codtrong>introng>g)

Part of nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TRBV3-2 Gene

T cell receptor beta variable 3-2 (pseudogene)

KLRF2 Gene

killer cell lecttrong>introng>-like receptor subfamily F, member 2

Enables protetrong>introng> homodimerization activity. Predicted to be trong>introng>volved trong>introng> natural killer cell degranulation and positive regulation of cytoktrong>introng>e production. Predicted to act upstream of or withtrong>introng> natural killer cell activation and positive regulation of natural killer cell mediated cytotoxicity. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

KLRF1 Gene

killer cell lecttrong>introng>-like receptor subfamily F, member 1

KLRF1, an activattrong>introng>g homodimeric C-type lecttrong>introng>-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytoktrong>introng>e release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]

SPDYE19P Gene

speedy/RINGO cell cycle regulator family member E19, pseudogene

FAS Gene

Fas cell surface death receptor

The protetrong>introng> encoded by this gene is a member of the TNF-receptor superfamily. This receptor contatrong>introng>s a death domatrong>introng>. It has been shown to play a central role trong>introng> the physiological regulation of programmed cell death, and has been implicated trong>introng> the pathogenesis of various malignancies and diseases of the immune system. The trong>introng>teraction of this receptor with its ligand allows the formation of a death-trong>introng>ductrong>introng>g signaltrong>introng>g complex that trong>introng>cludes Fas-associated death domatrong>introng> protetrong>introng> (FADD), caspase 8, and caspase 10. The autoproteolytic processtrong>introng>g of the caspases trong>introng> the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be trong>introng>volved trong>introng> transductrong>introng>g the proliferattrong>introng>g signals trong>introng> normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacktrong>introng>g the transmembrane domatrong>introng> may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

SART3 Gene

squamous cell carctrong>introng>oma antigen recognized by T cells 3

The protetrong>introng> encoded by this gene is an RNA-btrong>introng>dtrong>introng>g nuclear protetrong>introng> that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of trong>introng>ductrong>introng>g HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes trong>introng> cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs durtrong>introng>g the recycltrong>introng>g phase of the spliceosome cycle. This encoded protetrong>introng> is thought to be trong>introng>volved trong>introng> the regulation of mRNA splictrong>introng>g. [provided by RefSeq, Jul 2008]

LECT1 Gene

leukocyte cell derived chemotaxtrong>introng> 1

This gene encodes a glycosylated transmembrane protetrong>introng> that is cleaved to form a mature, secreted protetrong>introng>. The N-termtrong>introng>us of the precursor protetrong>introng> shares characteristics with other surfactant protetrong>introng>s and is sometimes called chondrosurfactant protetrong>introng> although no biological activity has yet been deftrong>introng>ed for it. The C-termtrong>introng>us of the precursor protetrong>introng> contatrong>introng>s a 25 kDa mature protetrong>introng> called leukocyte cell-derived chemotaxtrong>introng>-1 or chondromodultrong>introng>-1. The mature protetrong>introng> promotes chondrocyte growth and trong>introng>hibits angiogenesis. This gene is expressed trong>introng> the avascular zone of prehypertrophic cartilage and its expression decreases durtrong>introng>g chondrocyte hypertrophy and vascular trong>introng>vasion. The mature protetrong>introng> likely plays a role trong>introng> endochondral bone development by permitttrong>introng>g cartilagtrong>introng>ous anlagen to be vascularized and replaced by bone. It may be trong>introng>volved also trong>introng> the broad control of tissue vascularization durtrong>introng>g development. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]

LECT2 Gene

leukocyte cell-derived chemotaxtrong>introng> 2

This gene encodes a secreted, 16 kDa protetrong>introng> that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protetrong>introng> has high sequence similarity to the chondromodultrong>introng> repeat regions of the chicken myb-trong>introng>duced myeloid 1 protetrong>introng>. A polymorphism trong>introng> this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]

OPCML Gene

opioid btrong>introng>dtrong>introng>g protetrong>introng>/cell adhesion molecule-like

This gene encodes a member of the IgLON subfamily trong>introng> the immunoglobultrong>introng> protetrong>introng> superfamily of protetrong>introng>s. The encoded preprotetrong>introng> is proteolytically processed to generate the mature protetrong>introng>. This protetrong>introng> is localized trong>introng> the plasma membrane and may have an accessory role trong>introng> opioid receptor function. This gene has an ortholog trong>introng> rat and bovtrong>introng>e. The opioid btrong>introng>dtrong>introng>g-cell adhesion molecule encoded by the rat gene btrong>introng>ds opioid alkaloids trong>introng> the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protetrong>introng>. Strong>introng>ce the encoded protetrong>introng> is highly conserved trong>introng> species durtrong>introng>g evolution, it may have a fundamental role trong>introng> mammalian systems. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

WDPCP Gene

WD repeat contatrong>introng>trong>introng>g planar cell polarity effector

This gene encodes a cytoplasmic WD40 repeat protetrong>introng>. A similar gene trong>introng> frogs encodes a planar cell polarity protetrong>introng> that plays a critical role trong>introng> collective cell movement and ciliogenesis by mediattrong>introng>g septtrong>introng> localization. Mutations trong>introng> this gene are associated with Bardet-Biedl syndrome 15 and may also play a role trong>introng> Meckel-Gruber syndrome. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2014]

LOC440059 Gene

cell adhesion associated, oncogene regulated pseudogene

SPDYE17 Gene

speedy/RINGO cell cycle regulator family member E17

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE16 Gene

speedy/RINGO cell cycle regulator family member E16

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYA Gene

speedy/RINGO cell cycle regulator family member A

Enables protetrong>introng> ktrong>introng>ase activator activity and protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protetrong>introng> ktrong>introng>ase activity. Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SPDYC Gene

speedy/RINGO cell cycle regulator family member C

Enables protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]

BLACE Gene

B-cell acute lymphoblastic leukemia expressed

TRBV12-4 Gene

T cell receptor beta variable 12-4

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV12-5 Gene

T cell receptor beta variable 12-5

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV12-1 Gene

T cell receptor beta variable 12-1 (pseudogene)

TRBV12-2 Gene

T cell receptor beta variable 12-2 (pseudogene)

Predicted to be trong>introng>volved trong>introng> immune system process. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV12-3 Gene

T cell receptor beta variable 12-3

Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100131557 Gene

programmed cell death 2-like pseudogene

LOC100128800 Gene

cell adhesion associated, oncogene regulated pseudogene

KIR3DP1 Gene

killer cell immunoglobultrong>introng>-like receptor, three domatrong>introng>s, pseudogene 1

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domatrong>introng>s compared to other killer cell immunoglobultrong>introng>-like receptors. A rare haplotype, the result of a recombtrong>introng>antion event, has two copies of this gene, one of which may encode a secreted protetrong>introng>. (PMID: 15580659)[provided by RefSeq, Mar 2011]

SENCR Gene

smooth muscle and endothelial cell enriched migration/differentiation-associated long non-codtrong>introng>g RNA

BLNK Gene

B-cell ltrong>introng>ker

This gene encodes a cytoplasmic ltrong>introng>ker or adaptor protetrong>introng> that plays a critical role trong>introng> B cell development. This protetrong>introng> bridges B cell receptor-associated ktrong>introng>ase activation with downstream signaltrong>introng>g pathways, thereby affecttrong>introng>g various biological functions. The phosphorylation of five tyrostrong>introng>e residues is necessary for this protetrong>introng> to nucleate disttrong>introng>ct signaltrong>introng>g effectors followtrong>introng>g B cell receptor activation. Mutations trong>introng> this gene cause hypoglobultrong>introng>emia and absent B cells, a disease trong>introng> which the pro- to pre-B-cell transition is developmentally blocked. Deficiency trong>introng> this protetrong>introng> has also been shown trong>introng> some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

TARM1 Gene

T cell-trong>introng>teracttrong>introng>g, activattrong>introng>g receptor on myeloid cells 1

Enables immunoglobultrong>introng> receptor btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of CD4-positive, alpha-beta T cell activation. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TIMD4 Gene

T-cell immunoglobultrong>introng> and muctrong>introng> domatrong>introng> contatrong>introng>trong>introng>g 4

Predicted to enable phosphatidylsertrong>introng>e btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> apoptotic cell clearance and cytoskeletal rearrangement trong>introng>volved trong>introng> phagocytosis, engulfment. Predicted to be located trong>introng> extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV9 Gene

T cell receptor beta variable 9

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV2 Gene

T cell receptor beta variable 2

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRBV1 Gene

T cell receptor beta variable 1 (pseudogene)

TRBVC Gene

T cell receptor beta variable C

TRBVB Gene

T cell receptor beta variable B (pseudogene)

TRBVA Gene

T cell receptor beta variable A (pseudogene)

LOC100420144 Gene

mediator of cell motility 1 pseudogene

MUC3A Gene

muctrong>introng> 3A, cell surface associated

The muctrong>introng> genes encode epithelial glycoprotetrong>introng>s, some of which are secreted and some membrane bound. Each of the genes contatrong>introng>s at least one large domatrong>introng> of tandemly repeated sequence that encodes the peptide sequence rich trong>introng> sertrong>introng>e and/or threontrong>introng>e residues, which carries most of the O-ltrong>introng>ked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]

MUC3B Gene

muctrong>introng> 3B, cell surface associated

Predicted to be located trong>introng> Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

DAD1 Gene

defender agatrong>introng>st cell death 1

DAD1, the defender agatrong>introng>st apoptotic cell death, was trong>introng>itially identified as a negative regulator of programmed cell death trong>introng> the temperature sensitive tsBN7 cell ltrong>introng>e. The DAD1 protetrong>introng> disappeared trong>introng> temperature-sensitive cells followtrong>introng>g a shift to the nonpermissive temperature, suggesttrong>introng>g that loss of the DAD1 protetrong>introng> triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both trong>introng> the trong>introng>tact membrane and trong>introng> the purified enzyme, thus reflecttrong>introng>g the essential nature of N-ltrong>introng>ked glycosylation trong>introng> eukaryotes. [provided by RefSeq, Jul 2008]

HCFC2 Gene

host cell factor C2

This gene encodes one of two protetrong>introng>s which trong>introng>teract with VP16, a herpes simplex virus protetrong>introng> that trong>introng>itiates virus trong>introng>fection. Both the encoded protetrong>introng> and the origtrong>introng>al Herpes host cell factor trong>introng>teract with VP16 through a beta-propeller domatrong>introng>. The origtrong>introng>al Herpes host cell factor, however, is effective at trong>introng>itiattrong>introng>g viral trong>introng>fection while the encoded protetrong>introng> is not. Transcripts of varytrong>introng>g length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]

HCFC1 Gene

host cell factor C1

This gene is a member of the host cell factor family and encodes a protetrong>introng> with five Kelch repeats, a fibronecttrong>introng>-like motif, and six HCF repeats, each of which contatrong>introng>s a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulttrong>introng>g trong>introng> the creation of an N-termtrong>introng>al chatrong>introng> and the correspondtrong>introng>g C-termtrong>introng>al chatrong>introng>. The ftrong>introng>al form of this protetrong>introng> consists of noncovalently bound N- and C-termtrong>introng>al chatrong>introng>s. The protetrong>introng> is trong>introng>volved trong>introng> control of the cell cycle and transcriptional regulation durtrong>introng>g herpes simplex virus trong>introng>fection. Alternatively spliced variants which encode different protetrong>introng> isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

BCAP31P2 Gene

B-cell receptor-associated protetrong>introng> 31 pseudogene 2

PBCA Gene

Pancreatic beta cell, agenesis of

MS4A3 Gene

membrane-spanntrong>introng>g 4-domatrong>introng>s, subfamily A, member 3 (hematopoietic cell-specific)

This gene encodes a member of the membrane-spanntrong>introng>g 4A gene family. Members of this protetrong>introng> family are characterized by common structural features and similar trong>introng>tron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role trong>introng> signal transduction and may function as a subunit associated with receptor complexes. The gene encodtrong>introng>g this protetrong>introng> is localized to 11q12, among a cluster of related family members. Alternative splictrong>introng>g may result trong>introng> multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

TRAV34 Gene

T cell receptor alpha variable 34

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV35 Gene

T cell receptor alpha variable 35

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV37 Gene

T cell receptor alpha variable 37 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV30 Gene

T cell receptor alpha variable 30

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV32 Gene

T cell receptor alpha variable 32 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV33 Gene

T cell receptor alpha variable 33 (pseudogene)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV39 Gene

T cell receptor alpha variable 39

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

KIR2DP1 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, pseudogene 1

Predicted to be trong>introng>volved trong>introng> immune response-regulattrong>introng>g signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TCAM1P Gene

testicular cell adhesion molecule 1, pseudogene

This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series of partial duplications that have disrupted the human gene. A homologous gene trong>introng> mouse encodes a testis-specific cell adhesion protetrong>introng> that may play a role trong>introng> germ cell-Sertoli cell trong>introng>teractions. [provided by RefSeq, Apr 2012]

BST1 Gene

bone marrow stromal cell antigen 1

Bone marrow stromal cell antigen-1 is a stromal cell ltrong>introng>e-derived glycosylphosphatidyltrong>introng>ositol-anchored molecule that facilitates pre-B-cell growth. The deduced amtrong>introng>o acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced trong>introng> bone marrow stromal cell ltrong>introng>es derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities trong>introng> rheumatoid arthritis may be, at least trong>introng> part, attributed to BST1 overexpression trong>introng> the stromal cell population. [provided by RefSeq, Jul 2008]

BST2 Gene

bone marrow stromal cell antigen 2

Bone marrow stromal cells are trong>introng>volved trong>introng> the growth and development of B-cells. The specific function of the protetrong>introng> encoded by the bone marrow stromal cell antigen 2 is undetermtrong>introng>ed; however, this protetrong>introng> may play a role trong>introng> pre-B-cell growth and trong>introng> rheumatoid arthritis. [provided by RefSeq, Jul 2008]

PCP4L1 Gene

Purktrong>introng>je cell protetrong>introng> 4 like 1

TRBV29OR9-2 Gene

T cell receptor beta variable 29/OR9-2 (non-functional)

PDCD6IP Gene

programmed cell death 6 trong>introng>teracttrong>introng>g protetrong>introng>

This gene encodes a protetrong>introng> that functions withtrong>introng> the ESCRT pathway trong>introng> the abscission stage of cytoktrong>introng>esis, trong>introng> trong>introng>tralumenal endosomal vesicle formation, and trong>introng> enveloped virus buddtrong>introng>g. Studies ustrong>introng>g mouse cells have shown that overexpression of this protetrong>introng> can block apoptosis. trong>Introng> addition, the product of this gene btrong>introng>ds to the product of the PDCD6 gene, a protetrong>introng> required for apoptosis, trong>introng> a calcium-dependent manner. This gene product also btrong>introng>ds to endophiltrong>introng>s, protetrong>introng>s that regulate membrane shape durtrong>introng>g endocytosis. Overexpression of this gene product and endophiltrong>introng>s results trong>introng> cytoplasmic vacuolization, which may be partly responsible for the protection agatrong>introng>st cell death. Several alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]

FCP1 Gene

F-cell production 1

TRBV24OR9-2 Gene

T cell receptor beta variable 24/OR9-2 (pseudogene)

TRGV11 Gene

T cell receptor gamma variable 11 (non-functional)

Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> external side of plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

NEDD4 Gene

neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquittrong>introng> protetrong>introng> ligase

This gene is the foundtrong>introng>g member of the NEDD4 family of HECT ubiquittrong>introng> ligases that function trong>introng> the ubiquittrong>introng> proteasome system of protetrong>introng> degradation. The encoded protetrong>introng> contatrong>introng>s an N-termtrong>introng>al calcium and phospholipid btrong>introng>dtrong>introng>g C2 domatrong>introng> followed by multiple tryptophan-rich WW domatrong>introng>s and, a C-termtrong>introng>al HECT ubiquittrong>introng> ligase catalytic domatrong>introng>. It plays critical role trong>introng> the regulation of a number of membrane receptors, endocytic machtrong>introng>ery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]

TRAV12-1 Gene

T cell receptor alpha variable 12-1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV12-3 Gene

T cell receptor alpha variable 12-3

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV12-2 Gene

T cell receptor alpha variable 12-2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

SPDYE20P Gene

speedy/RINGO cell cycle regulator family member E20, pseudogene

UTF1 Gene

undifferentiated embryonic cell transcription factor 1

The protetrong>introng> encoded by this gene is a leuctrong>introng>e zipper-contatrong>introng>trong>introng>g transcriptional coactivator that may ltrong>introng>k the upstream activator ATF2 with the basal transcription complex. The encoded protetrong>introng> is closely associated with chromattrong>introng> and is required for the proper differentiation of embryonic carctrong>introng>oma and embryonic stem cells. Found nearly exclusively trong>introng> pluripotent cells, this protetrong>introng> can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]

CEACAM1 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotetrong>introng>)

This gene encodes a member of the carctrong>introng>oembryonic antigen (CEA) gene family, which belongs to the immunoglobultrong>introng> superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoprotetrong>introng>s, are located withtrong>introng> a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found trong>introng> the cluster. The encoded protetrong>introng> was origtrong>introng>ally described trong>introng> bile ducts of liver as biliary glycoprotetrong>introng>. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protetrong>introng> mediates cell adhesion via homophilic as well as heterophilic btrong>introng>dtrong>introng>g to other protetrong>introng>s of the subgroup. Multiple cellular activities have been attributed to the encoded protetrong>introng>, trong>introng>cludtrong>introng>g roles trong>introng> the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of trong>introng>nate and adaptive immune responses. Multiple transcript variants encodtrong>introng>g different isoforms have been reported, but the full-length nature of all variants has not been deftrong>introng>ed. [provided by RefSeq, May 2010]

CEACAM3 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 3

This gene encodes a member of the family of carctrong>introng>oembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to btrong>introng>d and trong>introng>vade host cells. The encoded transmembrane protetrong>introng> directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role trong>introng> controlltrong>introng>g human-specific pathogens by the trong>introng>nate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

CEACAM5 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 5

This gene encodes a cell surface glycoprotetrong>introng> that represents the foundtrong>introng>g member of the carctrong>introng>oembryonic antigen (CEA) family of protetrong>introng>s. The encoded protetrong>introng> is used as a cltrong>introng>ical biomarker for gastrotrong>introng>testtrong>introng>al cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protetrong>introng> may regulate differentiation, apoptosis, and cell polarity. This gene is present trong>introng> a CEA family gene cluster on chromosome 19. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2015]

CEACAM4 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 4

Predicted to enable protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> phagocytosis. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CEACAM7 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 7

This gene encodes a cell surface glycoprotetrong>introng> and member of the carctrong>introng>oembryonic antigen (CEA) family of protetrong>introng>s. Expression of this gene may be downregulated trong>introng> colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present trong>introng> a CEA family gene cluster on chromosome 19. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2015]

CEACAM6 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacttrong>introng>g antigen)

This gene encodes a protetrong>introng> that belongs to the carctrong>introng>oembryonic antigen (CEA) family whose members are glycosyl phosphatidyl trong>introng>ositol (GPI) anchored cell surface glycoprotetrong>introng>s. Members of this family play a role trong>introng> cell adhesion and are widely used as tumor markers trong>introng> serum immunoassay determtrong>introng>ations of carctrong>introng>oma. This gene affects the sensitivity of tumor cells to adenovirus trong>introng>fection. The protetrong>introng> encoded by this gene acts as a receptor for adherent-trong>introng>vasive E. coli adhesion to the surface of ileal epithelial cells trong>introng> patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]

CEACAM8 Gene

carctrong>introng>oembryonic antigen-related cell adhesion molecule 8

Enables protetrong>introng> heterodimerization activity. trong>Introng>volved trong>introng> heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Located trong>introng> cell surface and extracellular space. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Mar 2025]

HIRAP1 Gene

histone cell cycle regulator pseudogene 1

CDC42P3 Gene

cell division cycle 42 pseudogene 3

TRAV13-1 Gene

T cell receptor alpha variable 13-1

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAV13-2 Gene

T cell receptor alpha variable 13-2

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

BCAM Gene

basal cell adhesion molecule (Lutheran blood group)

This gene encodes Lutheran blood group glycoprotetrong>introng>, a member of the immunoglobultrong>introng> superfamily and a receptor for the extracellular matrix protetrong>introng>, lamtrong>introng>trong>introng>. The protetrong>introng> contatrong>introng>s five extracellular immunoglobultrong>introng> domatrong>introng>s, a strong>introng>gle transmembrane domatrong>introng>, and a short C-termtrong>introng>al cytoplasmic tail. This protetrong>introng> may play a role trong>introng> epithelial cell cancer and trong>introng> vaso-occlusion of red blood cells trong>introng> sickle cell disease. Polymorphisms trong>introng> this gene deftrong>introng>e some of the antigens trong>introng> the Lutheran system and also the Auberger system. trong>Introng>activattrong>introng>g variants of this gene result trong>introng> the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2012]

CWF19L1 Gene

CWF19-like 1, cell cycle control (S. pombe)

This gene encodes a member of the CWF19 protetrong>introng> family. Mutations trong>introng> this gene have been associated with autosomal recessive sptrong>introng>ocerebellar ataxia-17 and mild cognitive disability. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2014]

CWF19L2 Gene

CWF19-like 2, cell cycle control (S. pombe)

Predicted to be trong>introng>volved trong>introng> mRNA splictrong>introng>g, via spliceosome. Predicted to be located trong>introng> nucleoplasm. Predicted to be part of post-mRNA release spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]

KIR2DL3 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, long cytoplasmic tail, 3

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL2 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, long cytoplasmic tail, 2

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL1 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, long cytoplasmic tail, 1

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL4 Gene

killer cell immunoglobultrong>introng>-like receptor, two domatrong>introng>s, long cytoplasmic tail, 4

Killer cell immunoglobultrong>introng>-like receptors (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splictrong>introng>g results trong>introng> multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]

LOC100422671 Gene

cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene

TRBV29-1 Gene

T cell receptor beta variable 29-1

Predicted to be trong>introng>volved trong>introng> cell surface receptor signaltrong>introng>g pathway. Predicted to be part of T cell receptor complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRAJ4 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 4

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ5 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 5

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ6 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 6

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ7 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 7

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ1 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 1 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ2 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 2 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ3 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 3

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ8 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 8

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAJ9 Gene

T cell receptor alpha jotrong>introng>trong>introng>g 9

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell receptor is a dimer consisttrong>introng>g of one alpha and one beta chatrong>introng> or one delta and one gamma chatrong>introng>. trong>Introng> a strong>introng>gle cell, the T cell receptor loci are rearranged and expressed trong>introng> the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chatrong>introng>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germltrong>introng>e organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta chatrong>introng> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha chatrong>introng> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both chatrong>introng>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta chatrong>introng>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]

GMCL1 Gene

germ cell-less, spermatogenesis associated 1

This gene encodes a nuclear envelope protetrong>introng> that appears to be trong>introng>volved trong>introng> spermatogenesis, either directly or by trong>introng>fluenctrong>introng>g genes that play a more direct role trong>introng> the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contatrong>introng>s a strong>introng>gle-exon locus on chromosome 5 that contatrong>introng>s an open readtrong>introng>g frame capable of encodtrong>introng>g a highly-related protetrong>introng>. [provided by RefSeq, Jul 2008]

CADM4 Gene

cell adhesion molecule 4

Enables vascular endothelial growth factor receptor 2 btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of protetrong>introng> phosphorylation; regulation of Rac protetrong>introng> signal transduction; and regulation of wound healtrong>introng>g. Located trong>introng> cell leadtrong>introng>g edge and cell-cell contact zone. [provided by Alliance of Genome Resources, Mar 2025]

CADM2 Gene

cell adhesion molecule 2

This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobultrong>introng> (Ig) superfamily. The encoded protetrong>introng> has three Ig-like domatrong>introng>s and a cytosolic protetrong>introng> 4.1 btrong>introng>dtrong>introng>g site near the C-termtrong>introng>us. Protetrong>introng>s belongtrong>introng>g to the protetrong>introng> 4.1 family crossltrong>introng>k spectrtrong>introng> and trong>introng>teract with other cytoskeletal protetrong>introng>s. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

CADM3 Gene

cell adhesion molecule 3

The protetrong>introng> encoded by this gene is a calcium-trong>introng>dependent cell-cell adhesion protetrong>introng> that can form homodimers or heterodimers with other necttrong>introng> protetrong>introng>s. The encoded protetrong>introng> has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]

CADM1 Gene

cell adhesion molecule 1

Enables signaltrong>introng>g receptor btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g cell recognition; positive regulation of cytoktrong>introng>e production; and susceptibility to natural killer cell mediated cytotoxicity. Located trong>introng> plasma membrane. Implicated trong>introng> breast carctrong>introng>oma and prostate cancer. Biomarker of cervix uteri carctrong>introng>oma trong>introng> situ. [provided by Alliance of Genome Resources, Mar 2025]

LOC101927197 Gene

cell death activator CIDE-3-like

LOC105369971 Gene

vegetative cell wall protetrong>introng> gp1-like

CMA1 Gene

chymase 1, mast cell

This gene encodes a chymotryptic sertrong>introng>e protetrong>introng>ase that belongs to the peptidase family S1. It is expressed trong>introng> mast cells and is thought to function trong>introng> the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. trong>Introng> the heart and blood vessels, this protetrong>introng>, rather than angiotenstrong>introng> converttrong>introng>g enzyme, is largely responsible for converttrong>introng>g angiotenstrong>introng> I to the vasoactive peptide angiotenstrong>introng> II. Alternative splictrong>introng>g results trong>introng> multiple variants. [provided by RefSeq, Apr 2015]

BCL11A Gene

B-cell CLL/lymphoma 11A (ztrong>introng>c ftrong>introng>ger protetrong>introng>)

This gene encodes a C2H2 type ztrong>introng>c-ftrong>introng>ger protetrong>introng> by its similarity to the mouse Bcl11a/Evi9 protetrong>introng>. The correspondtrong>introng>g mouse gene is a common site of retroviral trong>introng>tegration trong>introng> myeloid leukemia, and may function as a leukemia disease gene, trong>introng> part, through its trong>introng>teraction with BCL6. Durtrong>introng>g hematopoietic cell differentiation, this gene is down-regulated. It is possibly trong>introng>volved trong>introng> lymphoma pathogenesis strong>introng>ce translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encodtrong>introng>g several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

BCL11B Gene

B-cell CLL/lymphoma 11B (ztrong>introng>c ftrong>introng>ger protetrong>introng>)

This gene encodes a C2H2-type ztrong>introng>c ftrong>introng>ger protetrong>introng> and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determtrong>introng>ed, the encoded protetrong>introng> is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeltrong>introng>g and histone deacetylase complex. Four alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

BOD1P2 Gene

biorientation of chromosomes trong>introng> cell division 1 pseudogene 2

BOD1P1 Gene

biorientation of chromosomes trong>introng> cell division 1 pseudogene 1

NKCD Gene

Natural killer cell deficiency, familial isolated

LOC101409262 Gene

cell division cycle 42 pseudogene

FZR1 Gene

fizzy/cell division cycle 20 related 1 (Drosophila)

Enables ubiquittrong>introng>-like ligase-substrate adaptor activity. trong>Introng>volved trong>introng> anaphase-promottrong>introng>g complex-dependent catabolic process; mitotic G2 DNA damage checkpotrong>introng>t signaltrong>introng>g; and positive regulation of ubiquittrong>introng> protetrong>introng> ligase activity. Located trong>introng> nuclear membrane and nucleoplasm. Implicated trong>introng> developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Mar 2025]

RIPOR1 Gene

RHO family trong>introng>teracttrong>introng>g cell polarization regulator 1

Enables 14-3-3 protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g establishment of Golgi localization; negative regulation of Rho guanyl-nucleotide exchange factor activity; and negative regulation of Rho protetrong>introng> signal transduction. Located trong>introng> Golgi apparatus; cell leadtrong>introng>g edge; and membrane. [provided by Alliance of Genome Resources, Mar 2025]

NECTIN1 Gene

necttrong>introng> cell adhesion molecule 1

This gene encodes an adhesion protetrong>introng> that plays a role trong>introng> the organization of adherens junctions and tight junctions trong>introng> epithelial and endothelial cells. The protetrong>introng> is a calcium(2+)-trong>introng>dependent cell-cell adhesion molecule that belongs to the immunoglobultrong>introng> superfamily and has 3 extracellular immunoglobultrong>introng>-like loops, a strong>introng>gle transmembrane domatrong>introng> (trong>introng> some isoforms), and a cytoplasmic region. This protetrong>introng> acts as a receptor for glycoprotetrong>introng> D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry trong>introng>to epithelial and neuronal cells. Mutations trong>introng> this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g protetrong>introng>s with disttrong>introng>ct C-termtrong>introng>i. [provided by RefSeq, Oct 2009]

CEMIP2 Gene

cell migration trong>introng>ductrong>introng>g hyaluronidase 2

This gene encodes a type II transmembrane protetrong>introng> that belongs to the trong>introng>terferon-trong>introng>duced transmembrane (IFITM) protetrong>introng> superfamily. The encoded protetrong>introng> functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan trong>introng>to trong>introng>termediate size fragments before trong>introng>ternalization and degradation trong>introng> the lysosome. It also has an trong>introng>terferon-mediated antiviral function trong>introng> humans through activation of the JAK STAT signaltrong>introng>g pathway. The activation of this gene by transcription factor SOX4 trong>introng> breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurrtrong>introng>g mutations trong>introng> this gene are associated with autosomal recessive non-syndromic heartrong>introng>g loss. [provided by RefSeq, Mar 2017]

NECTIN4 Gene

necttrong>introng> cell adhesion molecule 4

This gene encodes a member of the necttrong>introng> family. The encoded protetrong>introng> contatrong>introng>s two immunoglobultrong>introng>-like (Ig-like) C2-type domatrong>introng>s and one Ig-like V-type domatrong>introng>. It is trong>introng>volved trong>introng> cell adhesion through trans-homophilic and -heterophilic trong>introng>teractions. It is a strong>introng>gle-pass type I membrane protetrong>introng>. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloprotetrong>introng>ase ADAM17/TACE. The secreted form is found trong>introng> both breast tumor cell ltrong>introng>es and breast tumor patients. Mutations trong>introng> this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determtrong>introng>ed.[provided by RefSeq, Jan 2011]

NECTIN2 Gene

necttrong>introng> cell adhesion molecule 2

This gene encodes a strong>introng>gle-pass type I membrane glycoprotetrong>introng> with two Ig-like C2-type domatrong>introng>s and an Ig-like V-type domatrong>introng>. This protetrong>introng> is one of the plasma membrane components of adherens junctions. It also serves as an entry for certatrong>introng> mutant stratrong>introng>s of herpes simplex virus and pseudorabies virus, and it is trong>introng>volved trong>introng> cell to cell spreadtrong>introng>g of these viruses. Variations trong>introng> this gene have been associated with differences trong>introng> the severity of multiple sclerosis. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

PATJ Gene

PATJ crumbs cell polarity complex component

This gene encodes a protetrong>introng> with multiple PDZ domatrong>introng>s. PDZ domatrong>introng>s mediate protetrong>introng>-protetrong>introng> trong>introng>teractions, and protetrong>introng>s with multiple PDZ domatrong>introng>s often organize multimeric complexes at the plasma membrane. This protetrong>introng> localizes to tight junctions and to the apical membrane of epithelial cells. A similar protetrong>introng> trong>introng> Drosophila is a scaffoldtrong>introng>g protetrong>introng> which tethers several members of a multimeric signaltrong>introng>g complex trong>introng> photoreceptors. [provided by RefSeq, Jul 2008]

NECTIN3 Gene

necttrong>introng> cell adhesion molecule 3

This gene encodes a member of the necttrong>introng> family of protetrong>introng>s, which function as adhesion molecules at adherens junctions. This family member trong>introng>teracts with other necttrong>introng>-like protetrong>introng>s and with afadtrong>introng>, a filamentous acttrong>introng>-btrong>introng>dtrong>introng>g protetrong>introng> trong>introng>volved trong>introng> the regulation of directional motility, cell proliferation and survival. This gene plays a role trong>introng> ocular development trong>introng>volvtrong>introng>g the ciliary body. Mutations trong>introng> this gene are believed to result trong>introng> congenital ocular defects. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2011]

RIPOR2 Gene

RHO family trong>introng>teracttrong>introng>g cell polarization regulator 2

This gene encodes an atypical trong>introng>hibitor of the small G protetrong>introng> RhoA. trong>Introng>hibition of RhoA activity by the encoded protetrong>introng> mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protetrong>introng> is a component of hair cell stereocilia that is essential for heartrong>introng>g. A splice site mutation trong>introng> this gene results trong>introng> heartrong>introng>g loss trong>introng> human patients. [provided by RefSeq, Sep 2016]

ALPG Gene

alkaltrong>introng>e phosphatase, germ cell

There are at least four disttrong>introng>ct but related alkaltrong>introng>e phosphatases: trong>introng>testtrong>introng>al, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certatrong>introng> germ cell tumors, that is closely related to both the placental and trong>introng>testtrong>introng>al forms of alkaltrong>introng>e phosphatase. [provided by RefSeq, Jul 2008]

GMCL2 Gene

germ cell-less 2, spermatogenesis associated

This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its strong>introng>gle-exon nature, this chromosome 5 locus contatrong>introng>s an open readtrong>introng>g frame that could putatively encode a full-length germ cell-less related protetrong>introng>. [provided by RefSeq, Jul 2008]

CYREN Gene

cell cycle regulator of NHEJ

Predicted to enable molecular adaptor activity. trong>Introng>volved trong>introng> double-strand break repair via nonhomologous end jotrong>introng>trong>introng>g and negative regulation of double-strand break repair via nonhomologous end jotrong>introng>trong>introng>g. Located trong>introng> cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

DELE1 Gene

DAP3 btrong>introng>dtrong>introng>g cell death enhancer 1

Enables protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity and protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activator activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g HRI-mediated signaltrong>introng>g; positive regulation of mitophagy; and response to iron ion starvation. Located trong>introng> mitochondrial trong>introng>ner membrane. Is active trong>introng> cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE9 Gene

speedy/RINGO cell cycle regulator family member E9

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

PPDPFL Gene

pancreatic progenitor cell differentiation and proliferation factor like

Predicted to be trong>introng>volved trong>introng> cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE10 Gene

speedy/RINGO cell cycle regulator family member E10

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

GCNA Gene

germ cell nuclear acidic peptidase

Enables SUMO polymer btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> protetrong>introng>-DNA covalent cross-ltrong>introng>ktrong>introng>g repair. Located trong>introng> PML body. Implicated trong>introng> X-ltrong>introng>ked spermatogenic failure 4. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE21 Gene

speedy/RINGO cell cycle regulator family member E21

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

RHEX Gene

regulator of hemoglobtrong>introng>ization and erythroid cell expansion

Enables erythropoiettrong>introng> receptor btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> erythropoiettrong>introng>-mediated signaltrong>introng>g pathway and positive regulation of erythrocyte differentiation. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE12 Gene

speedy/RINGO cell cycle regulator family member E12

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

KLRA1P Gene

killer cell lecttrong>introng> like receptor A1, pseudogene

NALT1 Gene

NOTCH1 associated lncRNA trong>introng> T cell acute lymphoblastic leukemia 1

CIDECP1 Gene

cell death trong>introng>ductrong>introng>g DFFA like effector c pseudogene 1

MUC20P1 Gene

muctrong>introng> 20, cell surface associated pseudogene 1

PICSAR Gene

P38 trong>introng>hibited cutaneous squamous cell carctrong>introng>oma associated ltrong>introng>cRNA

NICOL1 Gene

NELL2 trong>introng>teracttrong>introng>g cell ontogeny regulator 1

Predicted to enable mRNA 3'-UTR btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> 3'-UTR-mediated mRNA stabilization and spermatogenesis. Predicted to be located trong>introng> pertrong>introng>uclear region of cytoplasm. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LCDR Gene

lysosome cell death regulator

SCIRT Gene

stem cell trong>introng>hibitory RNA transcript

SPDYE13 Gene

speedy/RINGO cell cycle regulator family member E13

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE8 Gene

speedy/RINGO cell cycle regulator family member E8

Enables acetylcholtrong>introng>e receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025]

SPDYE14 Gene

speedy/RINGO cell cycle regulator family member E14

Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]

CDC50A Gene

cell division cycle 50 P4-ATPase accessory subunit A

Enables amtrong>introng>ophospholipid flippase activity and structural molecule activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located trong>introng> endoplasmic reticulum and plasma membrane. Part of early endosome membrane; late endosome membrane; and phospholipid-translocattrong>introng>g ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]

CDC50B Gene

cell division cycle 50 P4-ATPase accessory subunit B

Enables amtrong>introng>ophospholipid flippase activity. trong>Introng>volved trong>introng> amtrong>introng>ophospholipid transport and positive regulation of protetrong>introng> exit from endoplasmic reticulum. Part of phospholipid-translocattrong>introng>g ATPase complex and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC112268354 Gene

killer cell immunoglobultrong>introng>-like receptor 2DL4-like