Name

SKI Gene

SKI proto-oncogene

This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]

SKIL Gene

SKI-like proto-oncogene

The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

SKOR2 Gene

SKI family transcriptional corepressor 2

Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SKOR1 Gene

SKI family transcriptional corepressor 1

Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of BMP signaling pathway. Located in dendrite and neuronal cell body. [provided by Alliance of Genome Resources, Mar 2025]

SKIDA1 Gene

SKI/DACH domain containing 1

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Mar 2025]

RAB33A Gene

RAB33A, member RAS oncogene family

The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008]

RAB33B Gene

RAB33B, member RAS oncogene family

This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]

LOC100131617 Gene

v-ets avian erythroblastosis virus E26 oncogene homolog 2 pseudogene

BOC Gene

BOC cell adhesion associated, oncogene regulated

The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

RAB9AP2 Gene

RAB9A, member RAS oncogene family pseudogene 2

RAB9AP1 Gene

RAB9A, member RAS oncogene family pseudogene 1

RAB9AP4 Gene

RAB9A, member RAS oncogene family pseudogene 4

RAB9AP5 Gene

RAB9A, member RAS oncogene family pseudogene 5

LOC100130203 Gene

cell adhesion associated, oncogene regulated pseudogene

RAB6A Gene

RAB6A, member RAS oncogene family

This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

RAB6B Gene

RAB6B, member RAS oncogene family

Enables myosin V binding activity. Involved in Golgi organization and protein localization to Golgi membrane. Located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]

RAB6C Gene

RAB6C, member RAS oncogene family

Enables GTPase activity. Involved in mitotic cell cycle; regulation of centrosome duplication; and response to xenobiotic stimulus. Located in Golgi apparatus and centrosome. [provided by Alliance of Genome Resources, Mar 2025]

ROS1 Gene

ROS proto-oncogene 1 , receptor tyrosine kinase

This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]

RAB11AP1 Gene

RAB11A, member RAS oncogene family pseudogene 1

FGFR1OP Gene

FGFR1 oncogene partner

This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]

RAB27A Gene

RAB27A, member RAS oncogene family

The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

RAB27B Gene

RAB27B, member RAS oncogene family

Enables guanyl ribonucleotide binding activity; myosin V binding activity; and protein domain specific binding activity. Involved in multivesicular body sorting pathway and positive regulation of exocytosis. Located in Golgi stack and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

MOS Gene

v-mos Moloney murine sarcoma viral oncogene homolog

MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009]

LOC100131294 Gene

RAB13, member RAS oncogene family pseudogene

ERG Gene

v-ets avian erythroblastosis virus E26 oncogene homolog

This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]

CBLL1 Gene

Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]

RAB42P1 Gene

RAB42, member RAS oncogene family, pseudogene 1

LYN Gene

LYN proto-oncogene, Src family tyrosine kinase

This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

CRKL Gene

v-crk avian sarcoma virus CT10 oncogene homolog-like

This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]

RAB28P2 Gene

RAB28, member RAS oncogene family pseudogene 2

RAB28P3 Gene

RAB28, member RAS oncogene family pseudogene 3

RAB28P1 Gene

RAB28, member RAS oncogene family pseudogene 1

RAB28P4 Gene

RAB28, member RAS oncogene family pseudogene 4

RAB28P5 Gene

RAB28, member RAS oncogene family pseudogene 5

RAN Gene

RAN, member RAS oncogene family

RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules. RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008]

FGR Gene

FGR proto-oncogene, Src family tyrosine kinase

This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

FGFR1OP2 Gene

FGFR1 oncogene partner 2

Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

RELB Gene

v-rel avian reticuloendotheliosis viral oncogene homolog B

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and protein kinase binding activity. Involved in lymphocyte differentiation and negative regulation of interferon-beta production. Located in several cellular components, including centrosome; chromatin; and nucleoplasm. Part of nucleus and transcription repressor complex. Implicated in breast cancer and immunodeficiency 53. Biomarker of breast cancer and transitional cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

RELA Gene

v-rel avian reticuloendotheliosis viral oncogene homolog A

NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

RAB40AL Gene

RAB40A, member RAS oncogene family-like

This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]

FOS Gene

FBJ murine osteosarcoma viral oncogene homolog

The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008]

HCK Gene

HCK proto-oncogene, Src family tyrosine kinase

The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010]

RAB5A Gene

RAB5A, member RAS oncogene family

Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in several processes, including amyloid-beta clearance by transcytosis; early endosome to late endosome transport; and regulation of exocytosis. Located in several cellular components, including cytoplasmic side of early endosome membrane; nucleoplasm; and terminal bouton. [provided by Alliance of Genome Resources, Mar 2025]

RAB5C Gene

RAB5C, member RAS oncogene family

Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]

RAB5B Gene

RAB5B, member RAS oncogene family

Enables GDP binding activity; GTP-dependent protein binding activity; and GTPase activity. Involved in antigen processing and presentation and plasma membrane to endosome transport. Located in endosome and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

RAB29 Gene

RAB29, member RAS oncogene family

Enables several functions, including dynein complex binding activity; guanyl ribonucleotide binding activity; and kinesin binding activity. Involved in several processes, including positive regulation of T cell receptor signaling pathway; positive regulation of receptor recycling; and retrograde transport, endosome to Golgi. Located in several cellular components, including Golgi apparatus; endosome; and vacuole. [provided by Alliance of Genome Resources, Mar 2025]

MRAS Gene

muscle RAS oncogene homolog

This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

RAP1BL Gene

RAP1B, member of RAS oncogene family pseudogene

Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be involved in Rap protein signal transduction; cellular response to cAMP; and negative regulation of synaptic vesicle exocytosis. Predicted to be located in cytosol and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ABL1 Gene

ABL proto-oncogene 1, non-receptor tyrosine kinase

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

ABL2 Gene

ABL proto-oncogene 2, non-receptor tyrosine kinase

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

KRAS Gene

Kirsten rat sarcoma viral oncogene homolog

This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]

RAB22A Gene

RAB22A, member RAS oncogene family

The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]

MYCLK1 Gene

v-myc avian myelocytomatosis viral oncogene homolog-like 1

RAB40C Gene

RAB40C, member RAS oncogene family

Predicted to enable GTPase activity. Predicted to be involved in exocytosis. Located in Golgi apparatus and lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]

RAB40B Gene

RAB40B, member RAS oncogene family

The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008]

RAB40A Gene

RAB40A, member RAS oncogene family

This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]

LOC100421737 Gene

ubiquitin specific peptidase 4 (proto-oncogene) pseudogene

LPSA Gene

Oncogene liposarcoma (DNA segment, single copy, expressed, probes

ELK2BP Gene

ELK2B, member of ETS oncogene family, pseudogene

RAP1B Gene

RAP1B, member of RAS oncogene family

This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]

RAP1A Gene

RAP1A, member of RAS oncogene family

This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

DEK Gene

DEK proto-oncogene

This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

MET Gene

MET proto-oncogene, receptor tyrosine kinase

This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]

FGFR1OP2P1 Gene

FGFR1 oncogene partner 2 pseudogene 1

FOSB Gene

FBJ murine osteosarcoma viral oncogene homolog B

The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RAB39B Gene

RAB39B, member RAS oncogene family

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]

RAB39A Gene

RAB39A, member RAS oncogene family

Predicted to enable GTP binding activity and GTPase activity. Involved in phagosome acidification and phagosome-lysosome fusion. Located in phagocytic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

CDON Gene

cell adhesion associated, oncogene regulated

This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]

RABL6 Gene

RAB, member RAS oncogene family-like 6

This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RABL3 Gene

RAB, member of RAS oncogene family-like 3

Predicted to enable GTP binding activity; GTPase activity; and protein homodimerization activity. Involved in regulation of Ras protein signal transduction and regulation of protein lipidation. Predicted to be active in endomembrane system. Implicated in pancreatic cancer. [provided by Alliance of Genome Resources, Mar 2025]

LOC100128122 Gene

Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase pseudogene

RAB8B Gene

RAB8B, member RAS oncogene family

RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]

RAB8A Gene

RAB8A, member RAS oncogene family

The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008]

ETS2 Gene

v-ets avian erythroblastosis virus E26 oncogene homolog 2

This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ETS1 Gene

v-ets avian erythroblastosis virus E26 oncogene homolog 1

This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

JUN Gene

jun proto-oncogene

This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008]

FEV Gene

FEV (ETS oncogene family)

This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]

FES Gene

FES proto-oncogene, tyrosine kinase

This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]

MYCN Gene

v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog

This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

MYCL Gene

v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of inner ear auditory receptor cell differentiation. Located in chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC643916 Gene

RAB1A, member RAS oncogene family pseudogene

ELK1P1 Gene

ELK1, member of ETS oncogene family pseudogene 1

RALB Gene

v-ral simian leukemia viral oncogene homolog B

This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008]

RAB28 Gene

RAB28, member RAS oncogene family

This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]

BRAF Gene

B-Raf proto-oncogene, serine/threonine kinase

This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]

HRAS Gene

Harvey rat sarcoma viral oncogene homolog

This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]

BMI1P1 Gene

BMI1 proto-oncogene, polycomb ring finger pseudogene 1

RAB7B Gene

RAB7B, member RAS oncogene family

Predicted to enable GTP binding activity and GTPase activity. Involved in late endosome to Golgi transport; positive regulation of megakaryocyte differentiation; and regulation of gene expression. Located in cytoplasmic vesicle; lysosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

RAB7A Gene

RAB7A, member RAS oncogene family

RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]

MAFK Gene

v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K

The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]

MAFA Gene

v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A

MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]

MAFB Gene

v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]

MAFF Gene

v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

MAFG Gene

v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G

Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]

LOC100418503 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418502 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418501 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418500 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418506 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418505 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418509 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418508 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

SET Gene

SET nuclear proto-oncogene

The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

SEA Gene

S13 erythroblastosis (avian) oncogene homolog

LCK Gene

LCK proto-oncogene, Src family tyrosine kinase

This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]

CBL Gene

Cbl proto-oncogene, E3 ubiquitin protein ligase

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]

LOC100418582 Gene

RAN, member RAS oncogene family pseudogene

LOC100418581 Gene

RAN, member RAS oncogene family pseudogene

LOC100418580 Gene

RAN, member RAS oncogene family pseudogene

MAS1 Gene

MAS1 proto-oncogene, G protein-coupled receptor

This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]

MPL Gene

MPL proto-oncogene, thrombopoietin receptor

In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]

RANP6 Gene

RAN, member RAS oncogene family pseudogene 6

RANP7 Gene

RAN, member RAS oncogene family pseudogene 7

RANP5 Gene

RAN, member RAS oncogene family pseudogene 5

RANP2 Gene

RAN, member RAS oncogene family pseudogene 2

RANP3 Gene

RAN, member RAS oncogene family pseudogene 3

RANP1 Gene

RAN, member RAS oncogene family pseudogene 1

RANP8 Gene

RAN, member RAS oncogene family pseudogene 8

RANP9 Gene

RAN, member RAS oncogene family pseudogene 9

LOC100420673 Gene

RAB5A, member RAS oncogene family pseudogene

MDM2 Gene

MDM2 proto-oncogene, E3 ubiquitin protein ligase

This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]

CRK Gene

v-crk avian sarcoma virus CT10 oncogene homolog

This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008]

LOC100418578 Gene

RAN, member RAS oncogene family pseudogene

LOC100418579 Gene

RAN, member RAS oncogene family pseudogene

RAB2A Gene

RAB2A, member RAS oncogene family

The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

RAB2B Gene

RAB2B, member RAS oncogene family

Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006]

RAB20 Gene

RAB20, member RAS oncogene family

Predicted to enable GTPase activity. Involved in phagosome acidification and phagosome-lysosome fusion. Located in Golgi apparatus and phagocytic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

RAB21 Gene

RAB21, member RAS oncogene family

This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015]

RAB23 Gene

RAB23, member RAS oncogene family

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RAB24 Gene

RAB24, member RAS oncogene family

RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009]

RAB25 Gene

RAB25, member RAS oncogene family

The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]

RAB26 Gene

RAB26, member RAS oncogene family

Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]

ELK1 Gene

ELK1, member of ETS oncogene family

This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012]

LOC100419932 Gene

FGFR1 oncogene partner 2 pseudogene

RET Gene

ret proto-oncogene

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

REL Gene

v-rel avian reticuloendotheliosis viral oncogene homolog

This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

FLI1 Gene

Fli-1 proto-oncogene, ETS transcription factor

This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

RAF1 Gene

Raf-1 proto-oncogene, serine/threonine kinase

This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]

RAB3A Gene

RAB3A, member RAS oncogene family

Enables GTPase activity and myosin V binding activity. Involved in several processes, including acrosomal vesicle exocytosis; plasma membrane repair; and regulation of plasma membrane repair. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CBLC Gene

Cbl proto-oncogene C, E3 ubiquitin protein ligase

This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

CBLB Gene

Cbl proto-oncogene B, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]

RABL2A Gene

RAB, member of RAS oncogene family-like 2A

This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

RABL2B Gene

RAB, member of RAS oncogene family-like 2B

The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

ELK2AP Gene

ELK2A, member of ETS oncogene family, pseudogene

RAP2B Gene

RAP2B, member of RAS oncogene family

This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008]

RAP2C Gene

RAP2C, member of RAS oncogene family

The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

RAP2A Gene

RAP2A, member of RAS oncogene family

Enables GTPase activity; guanyl ribonucleotide binding activity; and magnesium ion binding activity. Involved in several processes, including microvillus assembly; positive regulation of protein autophosphorylation; and regulation of dendrite morphogenesis. Acts upstream of or within establishment of protein localization. Located in plasma membrane and recycling endosome membrane. Is active in Schaffer collateral - CA1 synapse. [provided by Alliance of Genome Resources, Mar 2025]

LOC100129672 Gene

cell adhesion associated, oncogene regulated pseudogene

NRAS Gene

neuroblastoma RAS viral (v-ras) oncogene homolog

This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]

BLK Gene

BLK proto-oncogene, Src family tyrosine kinase

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

AKT1 Gene

v-akt murine thymoma viral oncogene homolog 1

This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

AKT2 Gene

v-akt murine thymoma viral oncogene homolog 2

This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]

AKT3 Gene

v-akt murine thymoma viral oncogene homolog 3

The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LOC100335030 Gene

FGFR1 oncogene partner 2 pseudogene

RAB19 Gene

RAB19, member RAS oncogene family

Predicted to enable GTPase activity. Predicted to be involved in autophagosome assembly and intracellular protein transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

RAB18 Gene

RAB18, member RAS oncogene family

The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

RAB10 Gene

RAB10, member RAS oncogene family

RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009]

RAB13 Gene

RAB13, member RAS oncogene family

This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]

RAB12 Gene

RAB12, member RAS oncogene family

Enables GDP binding activity. Predicted to be involved in several processes, including endocytic recycling; endosome to lysosome transport; and positive regulation of macroautophagy. Predicted to act upstream of or within cellular response to type II interferon. Predicted to be located in lysosome; phagocytic vesicle; and recycling endosome membrane. Predicted to be active in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

RAB14 Gene

RAB14, member RAS oncogene family

RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]

RAB17 Gene

RAB17, member RAS oncogene family

The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]

RAB1A Gene

RAB1A, member RAS oncogene family

This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]

RAB1C Gene

RAB1C, member RAS oncogene family pseudogene

Predicted to enable GTPase activity. Predicted to be involved in autophagosome assembly and intracellular protein transport. Predicted to be located in cytoplasm and membrane. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Mar 2025]

RAB1B Gene

RAB1B, member RAS oncogene family

Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]

JUNB Gene

jun B proto-oncogene

Enables sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor AP-1 complex. Implicated in head and neck squamous cell carcinoma and melanoma. Biomarker of gastrointestinal system cancer (multiple); lung non-small cell carcinoma; and lymphoma (multiple). [provided by Alliance of Genome Resources, Mar 2025]

JUND Gene

jun D proto-oncogene

The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013]

LOC100418507 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418504 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

RAB9A Gene

RAB9A, member RAS oncogene family

Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in negative regulation by host of symbiont catalytic activity; positive regulation of exocytosis; and regulation of protein localization. Located in late endosome; lysosome; and phagocytic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

RAB9B Gene

RAB9B, member RAS oncogene family

This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]

LOC101060112 Gene

RAP1A, member of RAS oncogene family pseudogene

MERTK Gene

MER proto-oncogene, tyrosine kinase

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

YES1 Gene

YES proto-oncogene 1, Src family tyrosine kinase

This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]

PVT1 Gene

Pvt1 oncogene (non-protein coding)

This gene represents a long non-coding RNA locus that has been identified as a candidate oncogene. Increased copy number and overexpression of this gene are associated with many types of cancers including breast and ovarian cancers, acute myeloid leukemia and Hodgkin lymphoma. Allelic variants of this gene are also associated with end-stage renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this gene is regulated by the tumor suppressor p53 through a canonical p53-binding site, and it has been implicated in regulating levels of the proto-oncogene MYC to promote tumorigenesis. [provided by RefSeq, Sep 2015]

MAS1L Gene

MAS1 proto-oncogene like, G protein-coupled receptor

Predicted to enable angiotensin receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MYBL1 Gene

v-myb avian myeloblastosis viral oncogene homolog-like 1

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MYBL2 Gene

v-myb avian myeloblastosis viral oncogene homolog-like 2

The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

SRC Gene

SRC proto-oncogene, non-receptor tyrosine kinase

This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

RAB9BP1 Gene

RAB9B, member RAS oncogene family pseudogene 1

RAB4B Gene

RAB4B, member RAS oncogene family

Enables GTPase activity. Involved in D-glucose import; early endosome to Golgi transport; and endosomal vesicle fusion. Located in insulin-responsive compartment; perinuclear region of cytoplasm; and recycling endosome. Is active in early endosome membrane. [provided by Alliance of Genome Resources, Mar 2025]

RAB4A Gene

RAB4A, member RAS oncogene family

This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

RAB44 Gene

RAB44, member RAS oncogene family

Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in vesicle-mediated transport. Predicted to act upstream of or within histamine secretion by mast cell and histamine secretion mediated by IgE immunoglobulin. Predicted to be located in azurophil granule membrane; plasma membrane; and specific granule membrane. [provided by Alliance of Genome Resources, Mar 2025]

RAB42 Gene

RAB42, member RAS oncogene family

Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

RAB43 Gene

RAB43, member RAS oncogene family

Enables GTPase activity. Involved in Golgi organization; phagosome maturation; and retrograde transport, plasma membrane to Golgi. Located in Golgi apparatus and phagocytic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

RAB41 Gene

RAB41, member RAS oncogene family

This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010]

RAB11A Gene

RAB11A, member RAS oncogene family

The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

RAB11B Gene

RAB11B, member RAS oncogene family

The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]

RAB15 Gene

RAB15, member RAS oncogene family

Predicted to enable GTP binding activity and GTPase activity. Involved in positive regulation of regulated secretory pathway. Located in cilium; endosome membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

KIT Gene

v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog

This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]

LOC100130841 Gene

MDM2 oncogene, E3 ubiquitin protein ligase pseudogene

LOC100418499 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418498 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC100418497 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

MAF Gene

v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog

The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

FYN Gene

FYN proto-oncogene, Src family tyrosine kinase

This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]

LOC100418510 Gene

MAS1 proto-oncogene like, G protein-coupled receptor pseudogene

LOC441768 Gene

RAB31, member RAS oncogene family pseudogene

RAP1BP3 Gene

RAP1B, member of RAS oncogene family pseudogene 3

RAP1BP2 Gene

RAP1B, member of RAS oncogene family pseudogene 2

RAP1BP1 Gene

RAP1B, member of RAS oncogene family pseudogene 1

LOC100422456 Gene

v-rel avian reticuloendotheliosis viral oncogene homolog A pseudogene

BMI1 Gene

BMI1 proto-oncogene, polycomb ring finger

This gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of multiple regulatory genes involved in embryonic development and self-renewal in somatic stem cells. This protein also plays a central role in DNA damage repair. This gene is an oncogene and aberrant expression is associated with numerous cancers and is associated with resistance to certain chemotherapies. A pseudogene of this gene is found on chromosome X. Read-through transcription also exists between this gene and the upstream COMM domain containing 3 (COMMD3) gene. [provided by RefSeq, Sep 2015]

RAP1AP Gene

RAP1A, member of RAS oncogene family pseudogene

LOC440059 Gene

cell adhesion associated, oncogene regulated pseudogene

RANP4 Gene

RAN, member RAS oncogene family pseudogene 4

LOC100128800 Gene

cell adhesion associated, oncogene regulated pseudogene

LOC100420571 Gene

RAB1A, member RAS oncogene family pseudogene

PIM2 Gene

Pim-2 proto-oncogene, serine/threonine kinase

This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009]

RAB5CP1 Gene

RAB5C, member RAS oncogene family pseudogene 1

RAB5CP2 Gene

RAB5C, member RAS oncogene family pseudogene 2

MYC Gene

v-myc avian myelocytomatosis viral oncogene homolog

This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]

MYB Gene

v-myb avian myeloblastosis viral oncogene homolog

This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ARAF Gene

A-Raf proto-oncogene, serine/threonine kinase

Enables protein serine/threonine kinase activity. Involved in negative regulation of apoptotic process; regulation of TOR signaling; and regulation of protein metabolic process. Predicted to be active in cytosol and mitochondrion. Biomarker of high grade glioma. [provided by Alliance of Genome Resources, Mar 2025]

RAB37 Gene

RAB37, member RAS oncogene family

Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]

RAB36 Gene

RAB36, member RAS oncogene family

Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in vesicle-mediated transport. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]

RAB35 Gene

RAB35, member RAS oncogene family

Enables GTPase activity and anion binding activity. Involved in several processes, including endosomal transport; plasma membrane to endosome transport; and protein localization to endosome. Located in several cellular components, including clathrin-coated endocytic vesicle; clathrin-coated pit; and intercellular bridge. [provided by Alliance of Genome Resources, Mar 2025]

RAB34 Gene

RAB34, member RAS oncogene family

This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]

RAB32 Gene

RAB32, member RAS oncogene family

The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]

RAB31 Gene

RAB31, member RAS oncogene family

Enables GDP binding activity and GTP binding activity. Involved in several processes, including Golgi to plasma membrane protein transport; cellular response to insulin stimulus; and receptor internalization. Located in early endosome; phagocytic vesicle; and trans-Golgi network membrane. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Mar 2025]

RAB30 Gene

RAB30, member RAS oncogene family

Predicted to enable GTP binding activity and GTPase activity. Involved in Golgi organization. Located in Golgi cisterna; cis-Golgi network; and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

RAB38 Gene

RAB38, member RAS oncogene family

Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane contact site. [provided by Alliance of Genome Resources, Mar 2025]

RAB3D Gene

RAB3D, member RAS oncogene family

Enables myosin V binding activity. Involved in bone resorption and positive regulation of regulated secretory pathway. Located in cytoplasmic microtubule and secretory vesicle. [provided by Alliance of Genome Resources, Mar 2025]

RAB3C Gene

RAB3C, member RAS oncogene family

This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

RAB3B Gene

RAB3B, member RAS oncogene family

Enables GDP binding activity; GTPase activity; and myosin V binding activity. Involved in several processes, including positive regulation of dopamine uptake involved in synaptic transmission; regulation of synaptic vesicle cycle; and regulation of vesicle size. Located in perinuclear region of cytoplasm and vesicle. Is active in dopaminergic synapse and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Mar 2025]

KRASP1 Gene

Kirsten rat sarcoma viral oncogene homolog pseudogene 1 (functional)

RAB9AP3 Gene

RAB9A, member RAS oncogene family pseudogene 3

SPI1 Gene

Spi-1 proto-oncogene

This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PIM3 Gene

Pim-3 proto-oncogene, serine/threonine kinase

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]

PIM1 Gene

Pim-1 proto-oncogene, serine/threonine kinase

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]

USP4 Gene

ubiquitin specific peptidase 4 (proto-oncogene)

The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

RAB6D Gene

RAB6D, member RAS oncogene family

Predicted to enable GTPase activity. Predicted to be involved in several processes, including Golgi vesicle transport; protein localization to Golgi membrane; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

CBLL2 Gene

Cbl proto-oncogene like 2

This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011]

Ski-related oncogene Sno Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ski-related oncogene Sno protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ski oncogene Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ski oncogene protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SMAD4-SNO-SKI complex Gene Set

From CORUM Protein Complexes

proteins in the SMAD4-SNO-SKI complex protein complex from the CORUM Protein Complexes dataset.

a-SKI (SKI) Gene Set

From NURSA Protein Complexes

proteins in the a-SKI (SKI) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

oncogene Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term oncogene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

oncogene-induced cell senescence Gene Set

From GO Biological Process Annotations 2015

genes participating in the oncogene-induced cell senescence biological process from the curated GO Biological Process Annotations 2015 dataset.

FGFR1 oncogene partner (FOP), N-terminal dimerisation domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FGFR1 oncogene partner (FOP), N-terminal dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Proto-oncogene Mas Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Proto-oncogene Mas protein domain from the InterPro Predicted Protein Domain Annotations dataset.

proto-oncogene-proteins Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term proto-oncogene-proteins in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

proto-oncogene-proteins-c-abl Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term proto-oncogene-proteins-c-abl in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Oncogene Induced Senescence Gene Set

From Reactome Pathways 2014

proteins participating in the Oncogene Induced Senescence pathway from the Reactome Pathways dataset.

oncogene-induced cell senescence Gene Set

From GO Biological Process Annotations 2023

genes participating in the oncogene-induced cell senescence biological process from the curated GO Biological Process Annotations 2023 dataset.

NAD metabolism in oncogene induced senescence and mitochondrial dysfunction associated senescence Gene Set

From WikiPathways Pathways 2024

proteins participating in the NAD metabolism in oncogene induced senescence and mitochondrial dysfunction associated senescence pathway from the WikiPathways Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Oncogene Induced Senescence Gene Set

From Reactome Pathways 2024

proteins participating in the Oncogene Induced Senescence pathway from the Reactome Pathways 2024 dataset.

sno(s)RNA polyadenylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the sno(s)RNA polyadenylation biological process from the curated GO Biological Process Annotations 2023 dataset.

sno(s)RNA catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the sno(s)RNA catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

sno(s)RNA 3'-end processing Gene Set

From GO Biological Process Annotations 2023

genes participating in the sno(s)RNA 3'-end processing biological process from the curated GO Biological Process Annotations 2023 dataset.

sno(s)RNA metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the sno(s)RNA metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

sno(s)RNA processing Gene Set

From GO Biological Process Annotations 2023

genes participating in the sno(s)RNA processing biological process from the curated GO Biological Process Annotations 2023 dataset.

box H/ACA sno(s)RNA 3'-end processing Gene Set

From GO Biological Process Annotations 2025

genes participating in the box H/ACA sno(s)RNA 3'-end processing biological process from the curated GO Biological Process Annotations 2025 dataset.

box C/D sno(s)RNA 3'-end processing Gene Set

From GO Biological Process Annotations 2025

genes participating in the box C/D sno(s)RNA 3'-end processing biological process from the curated GO Biological Process Annotations 2025 dataset.

sno(s)RNA catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the sno(s)RNA catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

sno(s)RNA 3'-end processing Gene Set

From GO Biological Process Annotations 2025

genes participating in the sno(s)RNA 3'-end processing biological process from the curated GO Biological Process Annotations 2025 dataset.

box H/ACA sno(s)RNA processing Gene Set

From GO Biological Process Annotations 2025

genes participating in the box H/ACA sno(s)RNA processing biological process from the curated GO Biological Process Annotations 2025 dataset.

box C/D sno(s)RNA processing Gene Set

From GO Biological Process Annotations 2025

genes participating in the box C/D sno(s)RNA processing biological process from the curated GO Biological Process Annotations 2025 dataset.

sno(s)RNA metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the sno(s)RNA metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

sno(s)RNA processing Gene Set

From GO Biological Process Annotations 2025

genes participating in the sno(s)RNA processing biological process from the curated GO Biological Process Annotations 2025 dataset.

box C/D sno(s)RNA binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the box C/D sno(s)RNA binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

sno(s)RNA-containing ribonucleoprotein complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the sno(s)RNA-containing ribonucleoprotein complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

sno(s)RNA-containing ribonucleoprotein complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the sno(s)RNA-containing ribonucleoprotein complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

ski complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the ski complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ski complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the ski complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

SMAD4-SKI complex Gene Set

From CORUM Protein Complexes

proteins in the SMAD4-SKI complex protein complex from the CORUM Protein Complexes dataset.

SKI-SMAD2-SMAD4 pentameric complex Gene Set

From CORUM Protein Complexes

proteins in the SKI-SMAD2-SMAD4 pentameric complex protein complex from the CORUM Protein Complexes dataset.

SKI-SMAD2 hexameric complex Gene Set

From CORUM Protein Complexes

proteins in the SKI-SMAD2 hexameric complex protein complex from the CORUM Protein Complexes dataset.

SKI-NCOR1-SIN3A-HDAC1 complex Gene Set

From CORUM Protein Complexes

proteins in the SKI-NCOR1-SIN3A-HDAC1 complex protein complex from the CORUM Protein Complexes dataset.

SMAD3-SKI-NCOR complex Gene Set

From CORUM Protein Complexes

proteins in the SMAD3-SKI-NCOR complex protein complex from the CORUM Protein Complexes dataset.

SKI-SMAD3 hexameric complex Gene Set

From CORUM Protein Complexes

proteins in the SKI-SMAD3 hexameric complex protein complex from the CORUM Protein Complexes dataset.

SMAD3-SKI complex Gene Set

From CORUM Protein Complexes

proteins in the SMAD3-SKI complex protein complex from the CORUM Protein Complexes dataset.

SKI-SMAD3-SMAD4 pentameric complex Gene Set

From CORUM Protein Complexes

proteins in the SKI-SMAD3-SMAD4 pentameric complex protein complex from the CORUM Protein Complexes dataset.

SMAD2-SKI complex Gene Set

From CORUM Protein Complexes

proteins in the SMAD2-SKI complex protein complex from the CORUM Protein Complexes dataset.

SMAD2-SKI-NCOR complex Gene Set

From CORUM Protein Complexes

proteins in the SMAD2-SKI-NCOR complex protein complex from the CORUM Protein Complexes dataset.

SKI complex Gene Set

From CORUM Protein Complexes

proteins in the SKI complex protein complex from the CORUM Protein Complexes dataset.

SMAD4-SKI-NCOR complex Gene Set

From CORUM Protein Complexes

proteins in the SMAD4-SKI-NCOR complex protein complex from the CORUM Protein Complexes dataset.

CA-SKI Gene Set

From COSMIC Cell Line Gene CNV Profiles

genes with high or low copy number in CA-SKI relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.

CA-SKI Gene Set

From COSMIC Cell Line Gene Mutation Profiles

genes mutated in the CA-SKI cell line from the COSMIC Cell Line Gene Mutation Profiles dataset.

Ca-Ski Gene Set

From GDSC Cell Line Gene Expression Profiles

genes with high or low expression in Ca-Ski relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.

ski Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ski in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ski complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the ski complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

SKI-interacting protein SKIP, SNW domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SKI-interacting protein SKIP, SNW domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ski family transcriptional corepressor 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ski family transcriptional corepressor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transforming protein Ski Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transforming protein Ski protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SKI family transcriptional corepressor 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SKI family transcriptional corepressor 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

c-SKI SMAD4-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the c-SKI SMAD4-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transcription regulator SKI/SnoN Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transcription regulator SKI/SnoN protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SKI-interacting protein, SKIP Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SKI-interacting protein, SKIP protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CA SKI Gene Set

From Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles

genes with high or low copy number in CA SKI relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.

CA SKI Gene Set

From Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles

genes with high or low expression in CA SKI relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset.

CA SKI Gene Set

From Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles

genes mutated in the CA SKI cell line from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.

SKI Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for SKI from the Pathway Commons Protein-Protein Interactions dataset.

Ca-Ski Gene Set

From Sanger Dependency Map Cancer Cell Line Proteomics

proteins associated with the cell line Ca-Ski from the Sanger Dependency Map Cancer Cell Line Proteomics dataset.

SKI II Gene Set

From DeepCoverMOA Drug Mechanisms of Action

proteins with high or low expression in SKI II relative to other proteins from the DeepCoverMOA Drug Mechanisms of Action dataset.

Transcription co factors SKI and SKIL protein partners Gene Set

From WikiPathways Pathways 2024

proteins participating in the Transcription co factors SKI and SKIL protein partners pathway from the WikiPathways Pathways 2024 dataset.

Ski complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Ski complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Ski complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Ski complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

SKI II Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the SKI II drug from theDGIdb Drug Targets 2026 dataset.

PMC9811786-13148_2022_1394_MOESM17_ESM.xlsx-SKI-Stress_CpG_gene_SKI Gene Set

From Rummagene Transcription Factor Associations 2026

target genes of the PMC9811786-13148_2022_1394_MOESM17_ESM.xlsx-SKI-Stress_CpG_gene_SKI transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

SKI Gene Set

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the SKI gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.