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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:75735647-75817382 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 39.55 cM
  • Mapping Data
    117 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2246 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    3
  • RFLP
    25
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96677
 protein coding gene Chr5:75735576-75817382 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029638
 protein coding gene Chr5:75722458-75806511 (+)
A/J MGP_AJ_G0029606
 protein coding gene Chr5:72834122-72913039 (+)
AKR/J MGP_AKRJ_G0029554
 protein coding gene Chr5:75206664-75294381 (+)
BALB/cJ MGP_BALBcJ_G0029615
 protein coding gene Chr5:73547668-73627535 (+)
C3H/HeJ MGP_C3HHeJ_G0029338
 protein coding gene Chr5:75599005-75682064 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030069
 protein coding gene Chr5:78764456-78851376 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027310
 protein coding gene Chr5:68499944-68579630 (+)
CAST/EiJ MGP_CASTEiJ_G0028746
 protein coding gene Chr5:74724469-74819377 (+)
CBA/J MGP_CBAJ_G0029307
 protein coding gene Chr5:81336517-81420663 (+)
DBA/2J MGP_DBA2J_G0029452
 protein coding gene Chr5:72912487-72994947 (+)
FVB/NJ MGP_FVBNJ_G0029413
 protein coding gene Chr5:72067492-72152553 (+)
LP/J MGP_LPJ_G0029539
 protein coding gene Chr5:76153621-76232528 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029441
 protein coding gene Chr5:84559063-84640944 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030102
 protein coding gene Chr5:74757961-74847507 (+)
PWK/PhJ MGP_PWKPhJ_G0028469
 protein coding gene Chr5:71910516-72002436 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028304
 protein coding gene Chr5:74101864-74182612 (+)
WSB/EiJ MGP_WSBEiJ_G0028826
 protein coding gene Chr5:75040323-75123520 (+)



Homology
more
  • Human Ortholog
    KIT, KIT proto-oncogene, receptor tyrosine kinase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KIT, KIT proto-oncogene, receptor tyrosine kinase
  • Synonyms
    CD117, C-Kit, MASTC, PBT, SCFR
  • Links
    NCBI Gene ID: 3815
    neXtProt AC: NX_P10721
    UniProt: P10721

  • Chr Location
    4q12; chr4:54657267-54740783 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with Kit mouse models; 7 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
IDs
IDs
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
less
  • Phenotype Summary
    242 phenotypes from 90 alleles in 90 genetic backgrounds
    98 phenotypes from multigenic genotypes
    13 images
    1078 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
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
neoplasm
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
less
  • All GO Annotations
    204
  • GO References
    56
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    2230
  • Tissues
    675
  • cDNA Data
    222
  • Literature Summary
    325
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16590 NCBI Gene Model | MGI Sequence Detail 81736 C57BL/6J ±  kb
    transcript NM_001122733 RefSeq | MGI Sequence Detail 5205 ZRU/MplStud  
    polypeptide P05532 UniProt | EBI | MGI Sequence Detail 979 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 310
      Genomic 39
      cDNA 232
      Primer pair 29
      Other 10

      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 1741
      Developmental Gene Expression 325
      Diseases 9
      Gene Ontology 56
      Phenotypes 1078
    • 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:353621 Patel VN, et al., Specific 3-O-sulfated heparan sulfate domains regulate salivary gland basement membrane metabolism and epithelial differentiation. Nat Commun. 2024 Aug 31;15(1):7584
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory