Harmonizome 3.0

From Connectivity Map

mRNA expression profiles for cell lines following chemical perturbation

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following small molecule perturbation

From LINCS L1000 Connectivity Map

mRNA expression profiles for cell lines following small molecule perturbation

zinc-activated ligand-gated ion channel-like

chemokine (C-C motif) ligand 3 pseudogene 1

ligand dependent nuclear receptor interacting factor 1

Predicted to enable nuclear retinoic acid receptor binding activity. Involved in dosage compensation by inactivation of X chromosome. Located in centriolar satellite; chromosome, telomeric region; and nuclear lumen. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Genome Resources, Mar 2025]

chemokine (C-C motif) ligand 4-like 1

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

chemokine (C-C motif) ligand 4-like 2

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014]

programmed cell death 1 ligand 2

Involved in negative regulation of activated T cell proliferation; negative regulation of interleukin-10 production; and negative regulation of type II interferon production. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Biomarker of pulmonary tuberculosis. [provided by Alliance of Genome Resources, Mar 2025]

ligand of numb-protein X 1, E3 ubiquitin protein ligase pseudogene

calcium modulating ligand

The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]

purinergic receptor P2X, ligand gated ion channel, 1

The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]

purinergic receptor P2X, ligand gated ion channel, 3

This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]

purinergic receptor P2X, ligand gated ion channel, 2

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]

purinergic receptor P2X, ligand gated ion channel, 5

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]

purinergic receptor P2X, ligand gated ion channel, 4

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]

purinergic receptor P2X, ligand gated ion channel, 6

The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]

chemokine (C-C motif) ligand 11

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 13

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 14

This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009]

chemokine (C-C motif) ligand 15

This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013]

chemokine (C-C motif) ligand 16

This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008]

chemokine (C-C motif) ligand 17

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 19

This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Sep 2014]

apelin receptor early endogenous ligand

This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]

purinergic receptor P2X, ligand gated ion channel, 6 pseudogene

chemokine (C-C motif) ligand 28

This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 21

This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 20

This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 23

This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

chemokine (C-C motif) ligand 22

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 25

This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 24

This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. Finally, the protein is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2020]

chemokine (C-C motif) ligand 27

This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 26

This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2020]

natural killer cell cytotoxicity receptor 3 ligand 1

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

purinergic receptor P2X, ligand gated ion channel, 7

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]

lymphokine-activated killer cell ligand

chemokine (C-C motif) ligand 3-like 1

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility. This record represents one of two copies that are present on the ALT_REF_LOCI_2 alternate haplotype of the GRCh38 human reference genome assembly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

tumor necrosis factor (ligand) superfamily, member 9

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]

tumor necrosis factor (ligand) superfamily, member 4

This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ICOS ligand

ligand dependent nuclear receptor corepressor

LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]

chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)

This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]

chemokine (C-X-C motif) ligand 3

This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014]

chemokine (C-X-C motif) ligand 2

This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014]

chemokine (C-X-C motif) ligand 5

This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013]

chemokine (C-X-C motif) ligand 6

The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 2020]

chemokine (C-X-C motif) ligand 9

This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Aug 2020]

chemokine (C-X-C motif) ligand 8

The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is commonly referred to as interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages, neutrophils, eosinophils, T lymphocytes, epithelial cells, and fibroblasts. It functions as a chemotactic factor by guiding the neutrophils to the site of infection. Bacterial and viral products rapidly induce IL-8 expression. IL-8 also participates with other cytokines in the proinflammatory signaling cascade and plays a role in systemic inflammatory response syndrome (SIRS). This gene is believed to play a role in the pathogenesis of the lower respiratory tract infection bronchiolitis, a common respiratory tract disease caused by the respiratory syncytial virus (RSV). The overproduction of this proinflammatory protein is thought to cause the lung inflammation associated with csytic fibrosis. This proinflammatory protein is also suspected of playing a role in coronary artery disease and endothelial dysfunction. This protein is also secreted by tumor cells and promotes tumor migration, invasion, angiogenesis and metastasis. This chemokine is also a potent angiogenic factor. The binding of IL-8 to one of its receptors (IL-8RB/CXCR2) increases the permeability of blood vessels and increasing levels of IL-8 are positively correlated with increased severity of multiple disease outcomes (eg, sepsis). This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, May 2020]

wntless Wnt ligand secretion mediator

Enables Wnt-protein binding activity and identical protein binding activity. Involved in positive regulation of cell communication and protein transport. Located in several cellular components, including Golgi apparatus; early endosome; and endoplasmic reticulum membrane. Implicated in Zaki syndrome. [provided by Alliance of Genome Resources, Mar 2025]

tumor necrosis factor (ligand) superfamily, member 13

The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]

tumor necrosis factor (ligand) superfamily, member 12

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]

tumor necrosis factor (ligand) superfamily, member 11

This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]

tumor necrosis factor (ligand) superfamily, member 10

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

tumor necrosis factor (ligand) superfamily, member 18

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]

chemokine (C-C motif) ligand 3-like 3

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014]

chemokine (C motif) ligand 2

Predicted to enable CCR chemokine receptor binding activity and chemokine activity. Predicted to be involved in several processes, including antimicrobial humoral immune response mediated by antimicrobial peptide; chemokine-mediated signaling pathway; and eosinophil chemotaxis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

chemokine (C motif) ligand 1

This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]

ligand dependent nuclear receptor corepressor-like

This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

chemokine (C-C motif) ligand 2

This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020]

chemokine (C-C motif) ligand 3

This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010]

chemokine (C-C motif) ligand 1

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]

chemokine (C-C motif) ligand 7

This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq, Jul 2008]

chemokine (C-C motif) ligand 4

The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012]

chemokine (C-C motif) ligand 5

This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

chemokine (C-C motif) ligand 8

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Sep 2014]

tumor necrosis factor (ligand) superfamily, member 15

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

tumor necrosis factor (ligand) superfamily, member 14

The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

ligand of numb-protein X 2

Predicted to enable ubiquitin-protein transferase activity. Predicted to act upstream of or within neural precursor cell proliferation and neuron differentiation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ligand of numb-protein X 1, E3 ubiquitin protein ligase

This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]

CD40 ligand

The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]

chemokine (C-X3-C motif) ligand 1

This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]

pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)

The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifungal activity. [provided by RefSeq, Nov 2014]

KIT ligand

This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

selectin P ligand

This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]

zinc activated ligand-gated ion channel

LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008]

tumor necrosis factor (ligand) superfamily, member 13b

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

inducible T-cell co-stimulator ligand

Enables identical protein binding activity and receptor ligand activity. Involved in T follicular helper cell differentiation. Located in intracellular membrane-bounded organelle. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chemokine (C-X-C motif) ligand 1 pseudogene

chemokine (C-X-C motif) ligand 11

Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

chemokine (C-X-C motif) ligand 12

This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

chemokine (C-X-C motif) ligand 14

This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014]

chemokine (C-X-C motif) ligand 17

The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]

chemokine (C-X-C motif) ligand 16

Enables chemokine activity. Involved in several processes, including positive regulation of cell growth; response to tumor necrosis factor; and response to type II interferon. Located in extracellular space. Biomarker of COVID-19 and systemic scleroderma. [provided by Alliance of Genome Resources, Mar 2025]

fms-related tyrosine kinase 3 ligand

Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]

Fas ligand (TNF superfamily, member 6)

This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]

P-selectin glycoprotein ligand 1-like

tumor necrosis factor (ligand) superfamily, member 8

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

chemokine (C-X-C motif) ligand 10

This antimicrobial gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. This gene may also be a key regulator of the 'cytokine storm' immune response to SARS-CoV-2 infection. [provided by RefSeq, Sep 2020]

chemokine (C-X-C motif) ligand 13

B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014]

ALK and LTK ligand 1

Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

ALK and LTK ligand 2

Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

G protein-coupled receptor 15 ligand

Enables chemokine activity. Involved in several processes, including defense response to other organism; mast cell degranulation; and negative regulation of cell cycle G1/S phase transition. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ligand of ATE1

Predicted to enable molecular condensate scaffold activity. Predicted to be involved in membraneless organelle assembly and protein arginylation. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5B small nuclear 1

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide C pseudogene 6

serine palmitoyltransferase small subunit A pseudogene

RNA, U6 small nuclear 67, pseudogene

RNA, U7 small nuclear 36 pseudogene

small nucleolar RNA, H/ACA box 81

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

small nucleolar RNA, H/ACA box 84

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small G protein signaling modulator 3

Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including Rap protein signal transduction; positive regulation of GTPase activity; and regulation of Rab protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-14

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-16

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-17

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 16, pseudogene

KRR1, small subunit (SSU) processome component, homolog (yeast)

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome; intercellular bridge; and nuclear lumen. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 53 pseudogene

RNA, U5A small nuclear 5, pseudogene

small nucleolar RNA, C/D box 48

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 90

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 41

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 47

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 44

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 93

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 4B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 4A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) pseudogene

small ubiquitin-like modifier 1 pseudogene

U2 small nuclear RNA auxiliary factor 1-like 4

Predicted to enable pre-mRNA 3'-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part of U2AF complex and spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U2 small nuclear 6, pseudogene

small nucleolar RNA, C/D box 91B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 91A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein 27kDa (U4/U6.U5) pseudogene

small nucleolar RNA, C/D box 115-6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-4

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-1

This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNA, U7 small nuclear 1

Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 46, pseudogene

small EDRK-rich factor 2

Involved in protein destabilization. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 45A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

small nucleolar RNA, C/D box 111B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

RNA, U5E small nuclear 6, pseudogene

RNA, U7 small nuclear 24 pseudogene

small nuclear ribonucleoprotein D3 polypeptide 18kDa

This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

small nuclear ribonucleoprotein D2 polypeptide 16.5kDa

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

small nuclear ribonucleoprotein D1 polypeptide 16kDa

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)

This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]

small EDRK-rich factor 2 pseudogene

RNA, U1 small nuclear 28, pseudogene

RNA, U1 small nuclear 13, pseudogene

RNA, U7 small nuclear 5 pseudogene

small proline-rich protein 4

Predicted to be involved in keratinization. Predicted to be located in cell cortex. [provided by Alliance of Genome Resources, Mar 2025]

small proline-rich protein 3

Predicted to enable structural molecule activity. Predicted to be involved in keratinocyte differentiation and wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6atac small nuclear 5, pseudogene

LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]

LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

small nuclear ribonucleoprotein polypeptide G pseudogene 9

small nuclear ribonucleoprotein polypeptide G pseudogene 7

small nuclear ribonucleoprotein polypeptide G pseudogene 6

small nuclear ribonucleoprotein polypeptide G pseudogene 5

small nuclear ribonucleoprotein polypeptide G pseudogene 4

small nuclear ribonucleoprotein polypeptide G pseudogene 1

small nuclear ribonucleoprotein polypeptide N pseudogene

small integral membrane protein 12-like

small EDRK-rich factor 2 pseudogene

small nucleolar RNA, C/D box 12C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 12B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 123

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 127

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 124

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 62 pseudogene

RNA, U6 small nuclear 79, pseudogene

RNA, U4 small nuclear 7, pseudogene

RNA, U6 small nuclear 8

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 9

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 7

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 1

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 2

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 69, pseudogene

small nucleolar RNA, H/ACA box 9

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 8

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 1

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 4

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 20, pseudogene

small G protein signaling modulator 1 pseudogene

ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)

This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]

small integral membrane protein 13

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 12

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 11

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 10

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 17

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 15

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 14

Predicted to act upstream of or within blastocyst hatching. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 19

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 18

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 47 pseudogene

RNA, U7 small nuclear 86 pseudogene

small nucleolar RNA, C/D box 121B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 121A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 13 pseudogene

RNA, U6 small nuclear 36, pseudogene

RNA, U4atac small nuclear 2, pseudogene

RNA, U6 small nuclear 64, pseudogene

small nuclear ribonucleoprotein 200kDa (U5)

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]

RNA, U5B small nuclear 5, pseudogene

RNA, U6 small nuclear 63, pseudogene

small nucleolar RNA, H/ACA box 74A

Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 74B

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

RNA, U7 small nuclear 54 pseudogene

RNA, U5A small nuclear 2, pseudogene

small nucleolar RNA, C/D box 115-43

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-41

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-47

small nucleolar RNA, C/D box 1A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 1B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 1C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 16

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 11

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 19

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 32 pseudogene

small nucleolar RNA, C/D box 43

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, C/D box 46

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA F

small ILF3/NF90-associated RNA E

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA D

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]

RNA, U7 small nuclear 33 pseudogene

RNA, U5D small nuclear 2, pseudogene

small nucleolar RNA, H/ACA box 33

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 32

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. Implicated in brain disease. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 35

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 34

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 38

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 76, pseudogene

RNA, U7 small nuclear 27 pseudogene

small nuclear ribonucleoprotein polypeptide C pseudogene 9

small nuclear ribonucleoprotein polypeptide C pseudogene 8

small nuclear ribonucleoprotein polypeptide C pseudogene 3

small nuclear ribonucleoprotein polypeptide C pseudogene 2

small nuclear ribonucleoprotein polypeptide C pseudogene 7

small nuclear ribonucleoprotein polypeptide C pseudogene 4

small nuclear RNA activating complex, polypeptide 3, 50kDa

Predicted to enable RNA polymerase III type 3 promoter sequence-specific DNA binding activity and bent DNA binding activity. Predicted to contribute to RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and core promoter sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nuclear body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear RNA activating complex, polypeptide 2, 45kDa

This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

small nuclear RNA activating complex, polypeptide 1, 43kDa

Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear RNA activating complex, polypeptide 5, 19kDa

This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]

small nuclear RNA activating complex, polypeptide 4, 190kDa

This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]

small nucleolar RNA, C/D box 98

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 99

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 94

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 95

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 97

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 92

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 21, pseudogene

UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)

This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)

Predicted to be involved in several processes, including meiotic cell cycle; rRNA processing; and spermatogenesis. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U2 small nuclear 3, pseudogene

RNA, U7 small nuclear 75 pseudogene

RNA, U7 small nuclear 4 pseudogene

RNA, 7SK small nuclear pseudogene 1

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNA, U5A small nuclear 8, pseudogene

RNA, U6 small nuclear 53, pseudogene

RNA, U6 small nuclear 39, pseudogene

RNA, U5F small nuclear 6, pseudogene

small ILF3/NF90-associated RNA A8

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U4 small nuclear 4, pseudogene

small ILF3/NF90-associated RNA G1

small ILF3/NF90-associated RNA G2

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 83, pseudogene

RNA, U1 small nuclear 27, pseudogene

RNA, U6 small nuclear 48, pseudogene

RNA, U1 small nuclear 18, pseudogene

small integral membrane protein 23

Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 20

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 21

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 24

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U2 small nuclear 1

The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009]

RNA, U7 small nuclear 42 pseudogene

small nucleolar RNA, C/D box 32A

Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 32B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 85 pseudogene

small cell cancer of the lung

small nucleolar RNA, C/D box 17

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA host gene 5

This gene represent a snoRNA host gene and produces a long non-coding RNA. This RNA may regulate gene expression by acting as a sponge for microRNAs. This transcript may also stabilize mRNAs by blocking degradation by staufen double-stranded RNA binding protein 1. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 4

small nucleolar RNA host gene 7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA host gene 6

small nucleolar RNA host gene 1

This locus represents a small nucleolar RNA host gene that produces multiple alternatively spliced long non-coding RNAs. This gene is upregulated in cancers and is thought to act as promoter of cell proliferation. This transcript negatively regulates tumor suppressor genes such as tumor protein p53. Expression of this locus may be a marker of tumor progression. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 8

RNA, U7 small nuclear 28 pseudogene

RNA, U7 small nuclear 65 pseudogene

RNA, U7 small nuclear 38 pseudogene

small nucleolar RNA, C/D box 15B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 15A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 3B-1

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 3B-2

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide B pseudogene

small nuclear ribonucleoprotein polypeptide B pseudogene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

tsukushi, small leucine rich proteoglycan

Predicted to enable transforming growth factor beta binding activity. Predicted to be involved in several processes, including cholesterol efflux; cholesterol homeostasis; and nervous system development. Predicted to act upstream of or within several processes, including ciliary body morphogenesis; negative regulation of Wnt signaling pathway; and telencephalon development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

u3 small nucleolar ribonucleoprotein protein MPP10-like

small nucleolar RNA, C/D box 83A

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, C/D box 83B

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, H/ACA box 71C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 71B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 71A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 71E

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 66, pseudogene

small nucleolar RNA, C/D box 85

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 8 pseudogene

small nucleolar RNA, C/D box 114-31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114-30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small lysine-rich protein 1

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNA, U7 small nuclear 14 pseudogene

small nuclear ribonucleoprotein polypeptide B pseudogene

RNA, variant U1 small nuclear 17

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 14

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 15

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 11

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 18

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 19

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 12

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 30 pseudogene

small nucleolar RNA, C/D box 13

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 11 pseudogene 1

small nucleolar RNA, H/ACA box 68

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 64

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 65

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 66

This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009]

small nucleolar RNA, H/ACA box 67

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 60

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 61

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 62

Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 63

Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116 cluster

small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1

small nuclear ribonucleoprotein polypeptide G pseudogene 13

small nuclear ribonucleoprotein polypeptide G pseudogene 12

small nuclear ribonucleoprotein polypeptide G pseudogene 11

small nuclear ribonucleoprotein polypeptide G pseudogene 14

small nucleolar RNA, C/D box 116-25

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-27

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-21

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5E small nuclear 8, pseudogene

RNA, U7 small nuclear 51 pseudogene

small nucleolar RNA, C/D box 65

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 64

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

small nucleolar RNA, C/D box 67

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 66

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 61

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009]

small nucleolar RNA, C/D box 60

Predicted to be involved in RNA processing. Predicted to act upstream of or within intracellular cholesterol transport. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 63

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 69

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 68

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 15, pseudogene

RNA, U2 small nuclear 4, pseudogene

RNA, U1 small nuclear 15, pseudogene

RNA, U5F small nuclear 4, pseudogene

RNA, U6atac small nuclear 3, pseudogene

small VCP/p97-interacting protein

Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

small integral membrane protein 22

Involved in several processes, including lipid droplet formation; positive regulation of cell migration; and regulation of actin cytoskeleton organization. Predicted to be located in late endosome and membrane. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 72 pseudogene

RNA, U6 small nuclear 56, pseudogene

small nucleolar RNA, C/D box 114-20

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide G pseudogene 8

small nucleolar RNA, C/D box 115-21

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-20

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-23

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-22

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-25

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-24

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-27

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-26

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-29

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-28

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNA, U3 small nucleolar pseudogene 2

RNA, U3 small nucleolar pseudogene 3

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U3 small nucleolar pseudogene 1

RNA, U3 small nucleolar pseudogene 4

small nucleolar RNA host gene 15

This gene represents a snoRNA host gene that produces a short-lived long non-coding RNA. This non-coding RNA is upregulated in tumor cells and may contribute to cell proliferation by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 14

This gene is located within the Prader-Willi critical region and produces a long, spliced paternally-imprinted RNA that initiates within a common upstream promoter region shared by the SNRPN (small nuclear ribonucleoprotein polypeptide N) and SNURF genes. This transcript serves as a host RNA for the small nucleolar RNA, C/D box 115 and 116 clusters. This RNA extends in antisense into the region of the ubiquitin protein ligase E3A gene (UBE3A), and is thought to regulate imprinted expression of UBE3A in the brain. This transcript undergoes extensive alternative splicing, and may initiate and terminate at multiple locations within this genomic region. The full-length structure of all splice forms is not determined. [provided by RefSeq, Mar 2017]

small nucleolar RNA host gene 17

small nucleolar RNA host gene 16

small nucleolar RNA host gene 11

This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008]

small nucleolar RNA host gene 12

This gene produces a long RNA that is overexpressed in tumor cells. This RNA may promote tumorigenesis by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 19

small nucleolar RNA host gene 18

small nucleolar RNA, H/ACA box 80E

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 80B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 80A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U4 small nuclear 9, pseudogene

RNA, U6 small nuclear 71, pseudogene

small nucleolar RNA, H/ACA box 45A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 22 pseudogene

small nuclear ribonucleoprotein polypeptide B

The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1

RNA, U7 small nuclear 59 pseudogene

small nucleolar RNA, C/D box 88A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 88B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 88C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 26, pseudogene

UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)

Enables RNA binding activity. Involved in nervous system development; positive regulation of apoptotic process; and ribosomal small subunit biogenesis. Located in cytoplasm; extracellular space; and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 10, pseudogene

small nucleolar RNA, C/D box 114-1

Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

small nucleolar RNA, C/D box 114-6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114-5

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114-4

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ash1 (absent, small, or homeotic)-like (Drosophila)

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

UTP6, small subunit (SSU) processome component, homolog (yeast) pseudogene

UTP18, small subunit (SSU) processome component, homolog (yeast) pseudogene

RNA, U7 small nuclear 41 pseudogene

small Cajal body-specific RNA 27

small Cajal body-specific RNA 22

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 23

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 20

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 21

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6atac small nuclear 4, pseudogene

RNA, U1 small nuclear 3

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 2

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 31, pseudogene

small nucleolar RNA, C/D box 115-5

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-2

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-3

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-8

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-9

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 101

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 100

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 102

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 105

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 104

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 107

Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011]

small nucleolar RNA, C/D box 108

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 60 pseudogene

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

small nucleolar RNA, C/D box 23

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA B2

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA B1

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5B small nuclear 3, pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

small nuclear ribonucleoprotein 40kDa (U5)

This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

small nuclear ribonucleoprotein 48kDa (U11/U12)

Predicted to enable metal ion binding activity. Predicted to be involved in RNA splicing. Located in cytosol and nucleoplasm. Part of U12-type spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]

CDC42 small effector 2

Enables signaling adaptor activity. Involved in regulation of signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CDC42 small effector 1

Predicted to enable GTPase inhibitor activity. Predicted to be involved in signal transduction. Located in cell junction. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 22, pseudogene

small Cajal body-specific RNA 5

Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 4

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small cell adhesion glycoprotein

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

RNA, 7SK small nuclear pseudogene 8

RNA, 7SK small nuclear pseudogene 9

RNA, 7SK small nuclear pseudogene 6

RNA, 7SK small nuclear pseudogene 7

RNA, 7SK small nuclear pseudogene 4

RNA, 7SK small nuclear pseudogene 5

RNA, 7SK small nuclear pseudogene 2

RNA, 7SK small nuclear pseudogene 3

small Cajal body-specific RNA 2

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA host gene 3

Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 1 (Vel blood group)

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

small nucleolar RNA host gene 9

RNA, U7 small nuclear 80 pseudogene

RNA, U7 small nuclear 11 pseudogene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNA, U7 small nuclear 35 pseudogene

small nucleolar RNA, C/D box 45C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 45B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 68 pseudogene

small nucleolar RNA, C/D box 18A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 18C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 18B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 53

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 10 like 1

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 76C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 76A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 52 pseudogene

RNA, U5A small nuclear 4, pseudogene

small nucleolar RNA, C/D box 3D

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 3 cluster

small nucleolar RNA, C/D box 3A

U3 RNA, an abundant small nucleolar RNA (snoRNA), is thought to play a role in the processing of ribosomal RNA precursors (Bernstein et al., 1983 [PubMed 6186397]).[supplied by OMIM, Jun 2009]

small nucleolar RNA, C/D box 37

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 34

Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 33

Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 45, pseudogene

RNA, U6 small nuclear 34, pseudogene

LSM1, U6 small nuclear RNA associated pseudogene 1

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNA, U6 small nuclear 55, pseudogene

small nucleolar RNA, H/ACA box 19

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 18

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 15

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 17

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 12

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

RNA, U5F small nuclear 7, pseudogene

Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 19 pseudogene

RNA, U7 small nuclear 78 pseudogene

RNA, U4atac small nuclear (U12-dependent splicing)

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]

RNA, U7 small nuclear 25 pseudogene

RNA, U7 small nuclear 81 pseudogene

small ILF3/NF90-associated RNA C3

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 23, pseudogene

RNA, U7 small nuclear 10 pseudogene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1

This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in protein dephosphorylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like

Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of G1/S transition of mitotic cell cycle and negative regulation of protein phosphorylation. Located in extracellular exosome. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 20 pseudogene

small nucleolar RNA, C/D box 116-10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-12

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 6 pseudogene

RNA, U7 small nuclear 77 pseudogene

RNA, 7SK small nuclear

Predicted to be involved in negative regulation of transcription elongation by RNA polymerase II. Part of 7SK snRNP. [provided by Alliance of Genome Resources, Mar 2025]

UTP18 small subunit (SSU) processome component homolog (yeast)

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nuclear membrane; nucleolus; and nucleoplasm. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 36A

Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq, Feb 2009]

small ILF3/NF90-associated RNA A14

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA A11

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA A10

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 3C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 105B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5D small nuclear 1

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U4 small nuclear 6, pseudogene

small nucleolar RNA, H/ACA box 71D

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

small ILF3/NF90-associated RNA A3

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA A2

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA A7

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA A6

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA A5

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA A4

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 16A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

cms1 ribosomal small subunit homolog (yeast)

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein 70kDa (U1)

Enables U1 snRNA binding activity. Involved in mRNA splicing, via spliceosome and regulation of RNA splicing. Located in nucleoplasm. Part of U1 snRNP and spliceosomal complex. Implicated in disease of mental health and systemic lupus erythematosus. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 49 pseudogene

RNA, U5E small nuclear 1

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 70

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 21, pseudogene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

RNA, U7 small nuclear 44 pseudogene

small nucleolar RNA, C/D box 116-5

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 87 pseudogene

RNA, U7 small nuclear 12 pseudogene

RNA, U6atac small nuclear (U12-dependent splicing)

Predicted to enable U4atac snRNA binding activity and pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition and spliceosomal tri-snRNP complex assembly. Predicted to be part of U6atac snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 62B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 12 pseudogene 1

serine palmitoyltransferase, small subunit A

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

serine palmitoyltransferase, small subunit B

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

small nucleolar RNA, H/ACA box 11

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

small nucleolar RNA, H/ACA box 10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 13

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

UTP6, small subunit (SSU) processome component, homolog (yeast)

Predicted to enable snoRNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 126

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 125

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small EDRK-rich factor 2 pseudogene

REM2 and RAB-like small GTPase 1

Predicted to enable GTP binding activity. Predicted to be involved in cilium assembly; protein localization; and regulation of vesicle-mediated transport. Predicted to act upstream of or within several processes, including axoneme assembly; endocardial cushion fusion; and regulation of smoothened signaling pathway. Located in centriole; ciliary basal body; and ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5B small nuclear 6, pseudogene

small nucleolar RNA, H/ACA box 73A

Predicted to be involved in RNA processing. Located in nucleus. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 73B

RNA, U7 small nuclear 57 pseudogene

RNA, U6 small nuclear 52, pseudogene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

small ILF3/NF90-associated RNA A12

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 88 pseudogene

RNA, 7SK small nuclear pseudogene 10

small nuclear ribonucleoprotein polypeptide A' pseudogene

RNA, U6 small nuclear 58, pseudogene

RNA, U5E small nuclear 9, pseudogene

small nucleolar RNA, C/D box 113-1

Small nucleolar RNAs (snoRNAs), like SNORD113-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD113-1 is 1 of 9 tandem SNORD113 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

small nucleolar RNA, C/D box 113-3

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-42

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-40

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-46

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-45

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-44

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-48

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 42B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 42A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 46

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 47

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 44

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 43

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 40

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 41

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 48

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 49

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114 cluster

RNA, U7 small nuclear 73 pseudogene

RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence

small nucleolar RNA, C/D box 58A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 58C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 58B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 89

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 87

Small nucleolar RNAs (snoRNAs) of the C/D class, such as SNORD87, are involved in 2-prime-methylation of preribosomal RNA precursors (Gogolevskaya et al., 2002 [PubMed 12119114]).[supplied by OMIM, Aug 2008]

small nucleolar RNA, C/D box 86

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 84

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 82

The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, C/D box 81

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 80

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5E small nuclear 5, pseudogene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta

Predicted to enable molecular adaptor activity. Predicted to be involved in post-translational protein targeting to endoplasmic reticulum membrane. Predicted to be part of TRC complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha

This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]

small nuclear ribonucleoprotein polypeptide G pseudogene 10

small nuclear ribonucleoprotein polypeptide G pseudogene 15

Predicted to contribute to RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of SMN-Sm protein complex and nucleus. Predicted to be active in P granule. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 17, pseudogene

RNA, U2 small nuclear 2, pseudogene

RNA, U5F small nuclear 2, pseudogene

RNA, U7 small nuclear 74 pseudogene

RNA, U6 small nuclear 50, pseudogene

small integral membrane protein 3

Enables identical protein binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 7

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 6

Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 5

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 4

Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 9

Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 8

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-36

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-37

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-33

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5E small nuclear 2, pseudogene

small nucleolar RNA, C/D box 50A

SNORD50A belongs to the C/D box class of small nucleolar RNAs (snoRNAs), which are thought to function as guide RNAs in the site-specific ribose methylation of preribosomal RNA (Kiss-Laszlo et al., 1996 [PubMed 8674114]).[supplied by OMIM, Nov 2009]

small nucleolar RNA, C/D box 50B

SNORD50B is a C/D box-type small nucleolar RNA (snoRNA) that is predicted to function as a guide RNA in 2-prime O-methylation of 28S ribosomal RNA (Tanaka et al., 2000 [PubMed 10792466]).[supplied by OMIM, Feb 2010]

small nucleolar RNA, H/ACA box 16B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein 25kDa (U11/U12)

Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]

small nuclear ribonucleoprotein 27kDa (U4/U6.U5)

This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

RNA, U6 small nuclear 82, pseudogene

RNA, U1 small nuclear 24, pseudogene

RNA, U7 small nuclear 43 pseudogene

small nucleolar RNA, H/ACA box 11E

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small proline-rich protein 1A

A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope. [provided by Alliance of Genome Resources, Mar 2025]

small proline-rich protein 1B

The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]

small EDRK-rich factor 1A (telomeric)

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008]

small EDRK-rich factor 1B (centromeric)

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]

RNA, U7 small nuclear 66 pseudogene

RNA, U6 small nuclear 19, pseudogene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

small nucleolar RNA, H/ACA box 69

This gene encodes a member of the family of box ACA small nucleolar RNAs, characterized by a consensus ACA motif positioned 3 nucleotides from the 3' end of the RNAs and a double-hairpin structure. The box ACA small nucleolar RNAs may play a role in rRNA maturation. This gene is co-transcribed with the ribosomal protein L39 gene. [provided by RefSeq, Oct 2009]

RNA, U4 small nuclear 3, pseudogene

RNA, U6 small nuclear 16, pseudogene

IMP3, U3 small nucleolar ribonucleoprotein

This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]

IMP4, U3 small nucleolar ribonucleoprotein

The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

small nucleolar RNA, H/ACA box 70B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 70D

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 70E

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 70F

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 70G

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 9 pseudogene

RNA, U7 small nuclear 82 pseudogene

RNA, U7 small nuclear 17 pseudogene

RNA, U105B small nucleolar

Predicted to be involved in RNA processing. Predicted to act upstream of or within response to bacterium. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

RNA, U6 small nuclear 6, pseudogene

Predicted to be located in nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 10 like 2B

RNA, variant U1 small nuclear 20

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

RNA, U4 small nuclear 1

Predicted to enable U6 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4 snRNP and U4/U6 x U5 tri-snRNP complex. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 37 pseudogene

small nucleolar RNA, H/ACA box 7B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 7A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 79

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 78

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 77

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 75

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 72

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 70

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 49B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide B pseudogene

small nucleolar RNA, C/D box 116-30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 18 pseudogene

RNA, U86 small nucleolar

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

heat shock protein family B (small), member 11

Predicted to enable metal ion binding activity. Predicted to be involved in kidney development; smoothened signaling pathway; and spermatogenesis. Predicted to act upstream of or within several processes, including left/right axis specification; lung development; and skeletal system development. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 51

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 52

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 53

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 54

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 55

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 57

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-24

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-26

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-22

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-23

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

KRR1, small subunit (SSU) processome component, homolog (yeast) pseudogene 1

RNA, U1 small nuclear 14, pseudogene

small nucleolar RNA, C/D box 116-28

small nuclear ribonucleoprotein polypeptide A' pseudogene

RNA, U6atac small nuclear 2, pseudogene

RNA, U5F small nuclear 5, pseudogene

small nuclear ribonucleoprotein polypeptide A'

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and spermatogenesis. Located in nuclear speck. Part of U2-type catalytic step 2 spliceosome and U2-type precatalytic spliceosome. Implicated in connective tissue disease. [provided by Alliance of Genome Resources, Mar 2025]

UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)

Enables RNA binding activity. Involved in positive regulation of rRNA processing; positive regulation of transcription by RNA polymerase I; and ribosomal small subunit biogenesis. Located in endoplasmic reticulum and fibrillar center. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 9-like

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 71 pseudogene

small nucleolar RNA, H/ACA box 36B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 36C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 3

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 68, pseudogene

RNA, U6 small nuclear 57, pseudogene

small nucleolar RNA, C/D box 115-18

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-19

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-15

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-11

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-12

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-13

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114-14

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

calpain, small subunit 1

This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

calpain, small subunit 2

Enables calcium-dependent cysteine-type endopeptidase activity. Predicted to be located in cytosol and plasma membrane. Predicted to be part of calpain complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box U73B (pseudogene)

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 73A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA I

LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LSM1, U6 small nuclear RNA associated

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011]

RNA, U6 small nuclear 72, pseudogene

RNA, U5E small nuclear 7, pseudogene

RNA, U12 small nuclear

Predicted to enable pre-mRNA branch point binding activity. Predicted to be involved in negative regulation of neuron apoptotic process. Predicted to act upstream of or within RNA splicing. Predicted to be part of U12 snRNP. Implicated in autosomal recessive spinocerebellar ataxia 33. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U11 small nuclear

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to act upstream of or within RNA splicing. Predicted to be part of U11 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U4 small nuclear 8, pseudogene

RNA, U7 small nuclear 58 pseudogene

RNA, U5A small nuclear 7, pseudogene

RNA, U7 small nuclear 23 pseudogene

small nucleolar RNA, C/D box 109A

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

small nucleolar RNA, C/D box 109B

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

small nucleolar RNA, H/ACA box 70C

This gene produces a small nucleolar RNA (snoRNA) that plays a role in post-transcriptional modification. This snoRNA is a type-3 retrotransposed snoRNA, where the ribosomal protein L10 gene on chromosome X is its parental gene, and this, together with part of the parental gene, was subsequently mobilized into an intron of the astrotactin 2 host gene on chromosome 9. This snoRNA contains a H/ACA box, which serves as a guide for the pseudouridylation of selected bases of ribosomal RNA by forming short duplexes with the 18S rRNA U1692, the target for this snoRNA. This gene is specific to human, chimp and orangutan, and is not found in the genomes of rhesus or marmoset. [provided by RefSeq, Jun 2010]

small nuclear ribonucleoprotein polypeptide E pseudogene 9

small nuclear ribonucleoprotein polypeptide E pseudogene 8

small nuclear ribonucleoprotein polypeptide E pseudogene 5

small nuclear ribonucleoprotein polypeptide E pseudogene 4

small nuclear ribonucleoprotein polypeptide E pseudogene 7

small nuclear ribonucleoprotein polypeptide E pseudogene 6

small nuclear ribonucleoprotein polypeptide E pseudogene 1

small nuclear ribonucleoprotein polypeptide E pseudogene 3

small nuclear ribonucleoprotein polypeptide E pseudogene 2

small nucleolar RNA, H/ACA box 51

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 11D

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide C pseudogene 1

small Cajal body-specific RNA 13

Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 12

This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010]

small Cajal body-specific RNA 11

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 10

Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 17

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 16

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 15

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 14

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 18

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

small ArfGAP 1

The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

small ArfGAP2

Predicted to enable GTPase activator activity. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 89 pseudogene

small ubiquitin-related modifier 2-like

small nucleolar RNA, H/ACA box 45B

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

small nucleolar RNA, H/ACA box 21

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 24

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 28

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 29

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 118

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 119

small nucleolar RNA, C/D box 117

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 112

Small nucleolar RNAs (snoRNAs), like SNORD112, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

small nucleolar RNA, C/D box 110

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 111

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 61 pseudogene

small nucleolar RNA, C/D box 11B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 63 pseudogene

small nuclear ribonucleoprotein polypeptide G pseudogene 2

small ILF3/NF90-associated RNA C5

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA C4

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA C1

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA C2

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U12 small nuclear 2, pseudogene

small Cajal body-specific RNA 9

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 8

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 3

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 1

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide E pseudogene 10

RNA, U7 small nuclear 46 pseudogene

small nucleolar RNA, C/D box 36A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 36C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 36B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5A small nuclear 1

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 38B

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 35, pseudogene

small nuclear ribonucleoprotein D2 pseudogene 2

small nuclear ribonucleoprotein D2 pseudogene 1

small nucleolar RNA, C/D box 116-9

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]