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Kit Gene Detail
Summary
  • Symbol
    Kit
  • Name
    KIT proto-oncogene receptor tyrosine kinase
  • 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
  • Gene Overview
    MyGene.info: KIT
  • Alliance
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
  • Genetic Map
    Chromosome 5, 39.55 cM
  • Mapping Data
    117 experiments
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, MASTC, PBT, SCFR
  • Links
    NCBI Gene ID: 3815
    neXtProt AC: NX_P10721
    UniProt: P10721

  • Chr Location
    4q12; chr4:54657928-54740715 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 5 models
IDs
View 5 models
IDs
View 1 model
      
IDs
View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    11 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    247 phenotypes from 92 alleles in 93 genetic backgrounds
    80 phenotypes from multigenic genotypes
    13 images
    783 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    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 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 301
      Genomic 39
      cDNA 231
      Primer pair 23
      Other 8

      Microarray probesets 4
    Other
    Accession IDs
    less
    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 1339
      Developmental Gene Expression 229
      Diseases 9
      Gene Ontology 52
      Phenotypes 783
    • 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:263883 Gutierrez BA, et al., Munc18-2, but not Munc18-1 or Munc18-3, controls compound and single-vesicle-regulated exocytosis in mast cells. J Biol Chem. 2018 May 11;293(19):7148-7159

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory