The KIT gene homepage

General information
Gene symbol KIT
Gene name v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Chromosome 4
Chromosomal band q11-q12
Imprinted -
Genomic reference NG_007456.1
Transcript reference NM_000222.2
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 152
Unique public DNA variants reported 113
Individuals with public variants 0
Hidden variants -
Notes This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Also known as: PBT; SCFR; C-Kit; CD117
Date created April 21, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/KIT
HGNC 6342
Entrez Gene 3815
PubMed articles KIT
OMIM - Gene 164920
OMIM - Diseases WD (wilson disease)
HGMD KIT
GeneCards KIT
GeneTests KIT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000069 4 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog NM_000222.2 - 152


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