Renal cell carcinoma: genes and variants

Genes linked to Renal cell carcinoma

• MET: Hepatocyte growth factor receptor

  Hepatocyte-growth-factor signaling through this pathway promotes cell survival, proliferation, motility, and invasive growth during development and tissue repair. Exon 14 skipping, amplification, activating mutations, or fusions can drive cancer and create actionable therapeutic dependencies.

  4 disease-causing and 1,741 uncertain variants in MET are linked to Renal cell carcinoma.

• BRAF: Serine/threonine-protein kinase B-raf

  It relays activated RAS signals through MEK and ERK to control proliferation, differentiation, and survival. Activating variants, especially V600E, drive melanoma and several other cancers and create sensitivity to pathway-directed therapies.

  0 disease-causing and 0 uncertain variants in BRAF are linked to Renal cell carcinoma.

• CSF1R: Macrophage colony-stimulating factor 1 receptor

  Signals from CSF1 and IL-34 through this pathway are required for development, survival, and function of macrophages and microglia. Pathogenic variants can cause adult-onset leukoencephalopathy with cognitive, psychiatric, and motor deterioration.

  0 disease-causing and 0 uncertain variants in CSF1R are linked to Renal cell carcinoma.

• CTLA4: Cytotoxic T-lymphocyte protein 4

  It restrains T-cell activation by competing with CD28 for CD80 and CD86 and by delivering inhibitory signals after immune activation. Haploinsufficiency causes immune dysregulation with autoimmunity and lymphoproliferation, while therapeutic blockade enhances antitumor immunity.

  0 disease-causing and 0 uncertain variants in CTLA4 are linked to Renal cell carcinoma.

• EPAS1: Endothelial PAS domain-containing protein 1

  When stabilized by hypoxia, it activates hypoxia-responsive genes controlling erythropoiesis, angiogenesis, iron metabolism, and cellular adaptation to low oxygen. Activating variants can cause familial erythrocytosis, while somatic dysregulation is central to clear-cell renal carcinoma and some paragangliomas.

  0 disease-causing and 0 uncertain variants in EPAS1 are linked to Renal cell carcinoma.

• FGFR1: Fibroblast growth factor receptor 1

  Its fibroblast-growth-factor signaling controls proliferation, differentiation, migration, and developmental patterning in many tissues. Germline pathogenic variants can cause hypogonadotropic hypogonadism or craniosynostosis syndromes, while fusions and other activating alterations drive selected cancers.

  0 disease-causing and 0 uncertain variants in FGFR1 are linked to Renal cell carcinoma.

• FGFR3: Fibroblast growth factor receptor 3

  It normally restrains growth-plate chondrocyte proliferation while regulating multiple developmental pathways. Activating germline variants cause achondroplasia and related skeletal dysplasias, while somatic activating alterations are common in bladder cancer and some other tumors.

  0 disease-causing and 0 uncertain variants in FGFR3 are linked to Renal cell carcinoma.

• FLT3: Receptor-type tyrosine-protein kinase FLT3

  Its signaling supports survival and expansion of early hematopoietic progenitors. Internal tandem duplications and kinase-domain mutations produce constitutive activity in acute myeloid leukemia and are important prognostic markers and therapeutic targets.

  0 disease-causing and 0 uncertain variants in FLT3 are linked to Renal cell carcinoma.

• IL2RA: Interleukin-2 receptor subunit alpha

  It contributes to the high-affinity IL-2 receptor on activated T cells and regulatory T cells, supporting lymphocyte proliferation and immune tolerance. Loss-of-function variants can cause immunodeficiency with autoimmunity, while abnormal expression is therapeutically targeted in selected immune disorders.

  0 disease-causing and 0 uncertain variants in IL2RA are linked to Renal cell carcinoma.

• IL2RB: Interleukin-2 receptor subunit beta

  It transmits signals from IL-2 and IL-15 that are essential for regulatory T cells, natural-killer cells, and memory lymphocytes. Biallelic pathogenic variants can cause combined immunodeficiency with prominent autoimmunity and defective immune regulation.

  0 disease-causing and 0 uncertain variants in IL2RB are linked to Renal cell carcinoma.

• IL2RG: Cytokine receptor common subunit gamma

  It is the shared signaling chain used by receptors for several interleukins required for lymphocyte development and survival. Loss-of-function variants cause X-linked severe combined immunodeficiency with profound T-cell and natural-killer-cell deficiency.

  0 disease-causing and 0 uncertain variants in IL2RG are linked to Renal cell carcinoma.

• KIT: Mast/stem cell growth factor receptor Kit

  Stem-cell-factor signaling through this pathway supports hematopoietic progenitors, mast cells, melanocytes, and germ cells. Activating variants drive gastrointestinal stromal tumors, systemic mastocytosis, and other malignancies, whereas loss-of-function variants can cause piebaldism.

  0 disease-causing and 0 uncertain variants in KIT are linked to Renal cell carcinoma.

• LCK: Tyrosine-protein kinase Lck

  It phosphorylates the earliest signaling components downstream of the T-cell receptor and CD4 or CD8 coreceptors, making it essential for T-cell development and activation. Severe loss-of-function can cause combined immunodeficiency, while aberrant activity contributes to lymphoid malignancy.

  0 disease-causing and 0 uncertain variants in LCK are linked to Renal cell carcinoma.

• PDCD1: Programmed cell death protein 1

  PDCD1 is an inhibitory receptor on activated T cells that binds PD-L1 and PD-L2. Its signaling helps maintain immune tolerance by restraining T-cell activation, making the protein important in autoimmunity and cancer immunotherapy.

  0 disease-causing and 0 uncertain variants in PDCD1 are linked to Renal cell carcinoma.

• PDGFRA: Platelet-derived growth factor receptor alpha

  PDGF signaling through this pathway promotes proliferation, survival, and migration of mesenchymal progenitors. Activating mutations or fusions drive gastrointestinal stromal tumors and selected hematologic and solid malignancies and can create kinase-inhibitor sensitivity.

  0 disease-causing and 0 uncertain variants in PDGFRA are linked to Renal cell carcinoma.

• PDGFRB: Platelet-derived growth factor receptor beta

  Its signaling supports pericytes, vascular smooth-muscle cells, and other mesenchymal lineages during growth and tissue repair. Oncogenic fusions drive myeloid neoplasms, while germline activating or loss-of-function variants can cause developmental and vascular disorders.

  0 disease-causing and 0 uncertain variants in PDGFRB are linked to Renal cell carcinoma.

• RET: Proto-oncogene tyrosine-protein kinase receptor Ret

  Its activation by GDNF-family ligands guides development of the enteric nervous system, kidney, and other tissues. Activating variants cause multiple endocrine neoplasia type 2 and can drive cancer, whereas loss-of-function variants are an important cause of Hirschsprung disease.

  0 disease-causing and 0 uncertain variants in RET are linked to Renal cell carcinoma.

• VHL: von Hippel-Lindau disease tumor suppressor

  It targets hydroxylated HIF-alpha proteins for ubiquitin-mediated degradation when oxygen is sufficient, keeping hypoxia-response programs suppressed. Loss of function stabilizes HIF signaling and causes von Hippel-Lindau tumor-predisposition syndrome while also driving most clear-cell renal carcinomas.

  0 disease-causing and 0 uncertain variants in VHL are linked to Renal cell carcinoma.

Known disease-causing variants in Renal cell carcinoma

Diseases related to Renal cell carcinoma

• Non-small cell lung carcinoma, also linked to BRAF, CTLA4, FGFR1, MET and 4 more
• Colorectal cancer, also linked to BRAF, FGFR1, FGFR3, KIT and 3 more
• Hepatocellular carcinoma, also linked to BRAF, CTLA4, FLT3, KIT and 3 more
• Gastrointestinal stromal tumor, also linked to CSF1R, FLT3, KIT, PDGFRA and 2 more
• Acute myeloid leukemia, also linked to FLT3, KIT, PDGFRA and PDGFRB
• Ovarian cancer, also linked to KIT, PDGFRA and RET
• Idiopathic pulmonary fibrosis, also linked to FGFR1, PDGFRA and PDGFRB
• Melanoma, also linked to BRAF, CTLA4 and PDCD1
• Interstitial lung disease, also linked to FGFR1, PDGFRA and PDGFRB
• Pheochromocytoma, also linked to RET and VHL
• Carcinoma of colon, also linked to BRAF and FGFR3
• Lung cancer, also linked to BRAF and PDCD1

Frequently asked questions

Which genes are linked to Renal cell carcinoma?

In CATVariant, Renal cell carcinoma is linked to 18 analyzed proteins: MET (Hepatocyte growth factor receptor), BRAF (Serine/threonine-protein kinase B-raf), CSF1R (Macrophage colony-stimulating factor 1 receptor), CTLA4 (Cytotoxic T-lymphocyte protein 4), EPAS1 (Endothelial PAS domain-containing protein 1), FGFR1 (Fibroblast growth factor receptor 1) and 12 more.

How many genetic variants are linked to Renal cell carcinoma?

1,758 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,741 are of uncertain significance or have conflicting reports.

Which uncertain variants in Renal cell carcinoma look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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