Harmonizome 3.0

Omphalocele due to duplication of 1p31.3

Pseudohyperkalemia, familial, 2, due to red cell leak

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

spastic paraplegia 27 (autosomal recessive)

spastic paraplegia 25 (autosomal recessive, with disc herniation)

spastic paraplegia 24 (autosomal recessive)

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

spastic paraplegia 23 (autosomal recessive)

spastic paraplegia 20 (Troyer syndrome)

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

spastic paraplegia 36 (autosomal dominant)

spastic paraplegia 45 (autosomal recessive)

spastic paraplegia 41 (autosomal dominant)

This locus was defined in a Chinese family. Nineteen individuals were genotyped and the interval was defined between D11S1324 and D11S1933. [provided by RefSeq, Feb 2010]

spastic paraplegia 7 (pure and complicated autosomal recessive)

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

spastic paraplegia 9 (autosomal dominant)

spastic paraplegia 11 (autosomal recessive)

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

spastic paraplegia 16 (complicated, X-linked recessive)

spastic paraplegia 18 (autosomal dominant)

spastic paraplegia 19 (autosomal dominant)

spastic paraplegia 14 (autosomal recessive)

spastic paraplegia, optic atrophy, and neuropathy

microcephaly with spastic diplegia (Paine syndrome)

spastic paraplegia 34 (autosomal dominant)

spastic paraplegia 37 (autosomal dominant)

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

Ataxia, spastic, 3, autosomal recessive

spastic ataxia 1 (autosomal dominant)

spastic paraplegia 3B

spastic paraplegia 32 (autosomal recessive)

spastic paraplegia 29 (autosomal dominant)

spastic paraplegia 5B (autosomal recessive)

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10

serologically defined colon cancer antigen 8

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]

serologically defined colon cancer antigen 3

Involved in several processes, including endocytic recycling; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in several cellular components, including endosome; microtubule organizing center; and retromer complex. [provided by Alliance of Genome Resources, Mar 2025]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5

Predicted to enable protein dimerization activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4

Predicted to enable protein dimerization activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1

colon cancer associated transcript 2 (non-protein coding)

This gene produces a long non-coding RNA that is upregulated in colon cancer and other cancers. This transcript promotes cell proliferation and suppresses apoptosis. It negatively regulates the biogenesis of microRNA 145. [provided by RefSeq, Dec 2017]

metastasis associated in colon cancer 1

MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]

serologically defined colon cancer antigen 3 pseudogene 2

serologically defined colon cancer antigen 3 pseudogene 1

colon cancer associated transcript 1 (non-protein coding)

This gene produces a long non-coding RNA that promotes tumor formation and is upregulated in colon cancer and other cancer cell types. This transcript may regulate long range chromosomal interactions, including at the Myc oncoprotein locus. This RNA may also function as a molecular sponge for microRNAs. [provided by RefSeq, Dec 2017]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21

colon adenocarcinoma hypermethylated (non-protein coding)

suppression of tumorigenicity 14 (colon carcinoma)

The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)

The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

immature colon carcinoma transcript 1

The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

UFM1-specific peptidase 1 (non-functional)

This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]

immunoglobulin heavy variable 1-38-4 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

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

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

thymopoietin pseudogene 2 (functional)

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

immunoglobulin lambda variable 5-48 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-35 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-38 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

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

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)

immunoglobulin kappa variable 3-7 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

adenosine deaminase, RNA-specific, B2 (non-functional)

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

immunoglobulin heavy variable 3/OR16-13 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 2D-24 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor gamma variable 10 (non-functional)

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

immunoglobulin heavy variable 1/OR15-1 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR15-9 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma P (non-functional)

SUMO1 pseudogene 3 (functional)

phosphatase and tensin homolog pseudogene 1 (functional)

PTENP1 represents a highly homologous processed pseudogene of PTEN (phosphatase and tensin homolog), a protein that encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. PTENP1 is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Jun 2020]

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like

Predicted to enable transaminase activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

immunoglobulin lambda variable 1-50 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor beta joining 2-2P (non-functional)

myosin light chain kinase pseudogene 1 (functional)

immunoglobulin heavy diversity 1-14 (non-functional)

immunoglobulin heavy diversity 4-11 (non-functional)

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

immunoglobulin kappa variable 6D-41 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4/OR15-8 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda variable 3-32 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor beta variable 17 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-16 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

vimentin 2, pseudogene (functional)

immunoglobulin heavy diversity 4/OR15-4B (non-functional)

immunoglobulin heavy variable 3/OR16-12 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-10 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

olfactory receptor, family 10, subfamily D, member 3 (non-functional)

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

immunoglobulin lambda variable 2-33 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

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

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 4/OR15-4A (non-functional)

immunoglobulin kappa variable 1/OR2-0 (non-functional)

immunoglobulin heavy variable 3/OR16-9 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-8 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR15-5 (non-functional)

immunoglobulin kappa variable 6D-21 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

high mobility group AT-hook 1 pseudogene 8 (functional)

T cell receptor gamma variable 1 (non-functional)

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

immunoglobulin kappa variable 1D-37 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

immunoglobulin kappa variable 1/OR2-108 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)

Enables identical protein binding activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

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

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

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

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 6-21 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 2/OR16-5 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 4-23 (non-functional)

immunoglobulin heavy variable 7-81 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 5/OR15-5B (non-functional)

immunoglobulin heavy diversity 5/OR15-5A (non-functional)

immunoglobulin heavy diversity 1/OR15-1B (non-functional)

immunoglobulin heavy diversity 1/OR15-1A (non-functional)

metallothionein 1D, pseudogene (functional)

Predicted to enable metal ion binding activity. Predicted to be involved in several processes, including cellular response to zinc ion; detoxification of copper ion; and intracellular zinc ion homeostasis. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR21-1 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

fer-1-like family member 4, pseudogene (functional)

Predicted to enable metal ion binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier organic anion transporter family, member 1B7 (non-functional)

Predicted to enable bile acid transmembrane transporter activity and sodium-independent organic anion transmembrane transporter activity. Predicted to be involved in bile acid and bile salt transport and sodium-independent organic anion transport. Predicted to be located in plasma membrane. Predicted to be active in basolateral plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 1-37 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

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

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be located in immunological synapse. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

immunoglobulin heavy variable 3-38-3 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda variable 11-55 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda joining 5 (non-functional)

immunoglobulin lambda joining 4 (non-functional)

immunoglobulin kappa variable 3/OR2-268 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

dipeptidyl-peptidase 10 (non-functional)

This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like pseudogene

immunoglobulin heavy diversity 5-24 (non-functional)

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

Kirsten rat sarcoma viral oncogene homolog pseudogene 1 (functional)

T cell receptor gamma variable 11 (non-functional)

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

flavin containing monooxygenase 2 (non-functional)

This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

zinc finger protein 300 pseudogene 1 (functional)

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T cell receptor alpha joining 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 presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

immunoglobulin kappa variable 1D-42 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]