Cancer

BRCA1 Breast Cancer 1 is a tumor suppressor gene on chromosome 17q21.31. Its protein partners with BRCA2 and PALB2 in homologous r...

BRCA2 Breast Cancer 2 on chromosome 13q13.1 works with BRCA1 and PALB2 in homologous recombination DNA repair, where the BRCA2 pro...

TP53 on chromosome 17p13.1 encodes p53, the protein often called the guardian of the genome. It is the most frequently mutated gen...

RB1 on chromosome 13q14.2 was the first tumor suppressor gene to be cloned, in 1986, following the two hit hypothesis proposed in ...

PTEN on chromosome 10q23.31 encodes phosphatase and tensin homolog, a lipid phosphatase that converts PIP3 back to PIP2, opposing ...

KRAS on chromosome 12p12.1 encodes a small GTPase in the RAS MAPK signaling pathway that cycles between an active GTP bound state ...

EGFR Epidermal Growth Factor Receptor on chromosome 7p11.2 encodes a receptor tyrosine kinase of the ErbB family that activates th...

MLH1 on chromosome 3p22.2 encodes a key component of the DNA mismatch repair system, forming the MutL alpha complex with PMS2 to c...

PIK3CA on chromosome 3q26.32 encodes p110 alpha, the catalytic subunit of class I phosphatidylinositol 3 kinase, which generates t...

APC Adenomatous Polyposis Coli on chromosome 5q22.2 is a tumor suppressor in the WNT signaling pathway. Its protein forms a destru...

VHL Von Hippel Lindau on chromosome 3p25.3 encodes the substrate recognition component of an E3 ubiquitin ligase that targets the ...

PALB2 Partner and Localizer of BRCA2 on chromosome 16p12.2 encodes a protein that links BRCA1 and BRCA2 at sites of DNA damage and...

CDH1 on chromosome 16q22.1 encodes E cadherin, a calcium dependent cell to cell adhesion molecule that forms adherens junctions be...

ATM Ataxia Telangiectasia Mutated on chromosome 11q22.3 encodes a large serine threonine kinase of the PI3K related kinase family ...

CHEK2 on chromosome 22q12.1 encodes checkpoint kinase 2, a serine threonine kinase activated by ATM in response to DNA double stra...

NF1 Neurofibromatosis type 1 on chromosome 17q11.2 encodes neurofibromin, a large GTPase activating protein that switches off RAS ...

TSC1, encoding hamartin on chromosome 9q34.13, and TSC2, encoding tuberin on chromosome 16p13.3, produce proteins that form a comp...

EPCAM on chromosome 2p21 encodes epithelial cell adhesion molecule, a transmembrane glycoprotein expressed in most normal epitheli...

ERBB2, also called HER2, on chromosome 17q12 encodes a receptor tyrosine kinase of the epidermal growth factor receptor family. HE...

NOTCH1 on chromosome 9q34.3 encodes a transmembrane receptor of the Notch signaling pathway, a highly conserved system of direct c...

WT1 on chromosome 11p13 encodes a zinc finger transcription factor, existing in multiple isoforms, that is essential for the devel...

SETD2 on chromosome 3p21.31 encodes a histone methyltransferase that is the only enzyme known to produce trimethylation of histone...

BRAF on chromosome 7q34 encodes a serine threonine kinase in the RAS RAF MEK ERK signaling pathway, which relays growth signals fr...

MYC on chromosome 8q24.21 encodes c MYC, a transcription factor that regulates a vast number of genes involved in cell growth, met...

ABL1 on chromosome 9q34.12 encodes a non receptor tyrosine kinase involved in cell differentiation, division, adhesion, and the re...

RET on chromosome 10q11.21 encodes a receptor tyrosine kinase that is essential for the development of the enteric nervous system ...

MEN1 on chromosome 11q13.1 encodes menin, a nuclear protein that interacts with many transcription factors and chromatin modifying...

MSH2 on chromosome 2p21 encodes a core component of the DNA mismatch repair system, which corrects errors such as mispaired bases ...

CDKN2A on chromosome 9p21.3 is an unusual gene that encodes two distinct tumor suppressor proteins from overlapping sequences read...

NF2 on chromosome 22q12.2 encodes merlin, also called schwannomin, a cytoskeleton associated tumor suppressor that helps cells sto...

TERT on chromosome 5p15.33 encodes the catalytic subunit of telomerase, the enzyme that adds repetitive DNA sequences to chromosom...

IDH1 on chromosome 2q34 encodes isocitrate dehydrogenase 1, a cytoplasmic enzyme that converts isocitrate to alpha ketoglutarate. ...