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Kit Gene Detail
Summary
  • Symbol
    Kit
  • Name
    kit oncogene
  • Synonyms
    belly-spot, CD117, c-KIT, Dominant white spotting, Gsfsco1, Gsfsco5, Gsfsow3, SCO1, SCO5, SOW3, Steel Factor Receptor, Tr-kit
  • Feature Type
    protein coding gene
  • IDs
    MGI:96677
    NCBI Gene: 16590
Location & Maps
more
  • Sequence Map
    Chr5:75574916-75656722 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      81807 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    KIT, KIT proto-oncogene receptor tyrosine kinase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    KIT, KIT proto-oncogene receptor tyrosine kinase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CD117, C-Kit, PBT, SCFR
  • Links
    NCBI Gene ID: 3815
    neXtProt AC: NX_P10721

  • Chr Location
    4q12; chr4:54657928-54740715 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Kit mouse models; 4 with human KIT associations

Human Disease Mouse Models
       Gastrointestinal Stromal Tumor; GIST   OMIM: 606764 View 5 models
Mast Cell Disease   OMIM: 154800 View 5 models
Piebald Trait; PBT   OMIM: 172800 View 1 model
       Testicular Germ Cell Tumor; TGCT   OMIM: 273300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    242 phenotypes from 92 alleles in 82 genetic backgrounds
    75 phenotypes from multigenic genotypes
    13 images
    702 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    161
  • Chemically induced (ENU)
    17
  • Chemically induced (other)
    3
  • Gene trapped
    39
  • Radiation induced
    2
  • Spontaneous
    73
  • Targeted
    23
  • Transgenic
    4
  • Genomic Mutations
    5 involving Kit
  • Incidental Mutations
Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hematopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016671 VEGA Gene Model | MGI Sequence Detail 81807 C57BL/6J ±  kb
transcript OTTMUST00000040351 VEGA | MGI Sequence Detail 5214 Not Applicable  
polypeptide OTTMUSP00000018030 VEGA | MGI Sequence Detail 979 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    729 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 298
    Genomic 39
    cDNA 230
    Primer pair 21
    Other 8

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-11588, MGD-MRK-14609, MGD-MRK-15420, MGD-MRK-1672, MGD-MRK-9743, MGI:3530304, MGI:3530312, MGI:3530319
References
more
  • Summaries
    All 1160
    Developmental Gene Expression 193
    Diseases 11
    Gene Ontology 49
    Phenotypes 702
  • Earliest
    J:2447 Little CC, et al., The occurrence of a dominant spotting mutation in the house mouse. Proc Natl Acad Sci U S A. 1937 Oct;23(10):535-537
  • Latest
    J:227010 Shimizu K, et al., Histamine Released from Epidermal Keratinocytes Plays a Role in alpha-Melanocyte-Stimulating Hormone-Induced Itching in Mice. Am J Pathol. 2015 Nov;185(11):3003-10

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory