GEPHE SUMMARY Print
Gephebase Gene
Kit (type III receptor protein-tyrosine kinase)
Entry Status
Published
GepheID
GP00002216
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Morphology
Trait
Coloration (coat)
Trait State in Taxon A
Icelandic
Trait State in Taxon B
Icelandic - white
Ancestral State
Taxon A
Taxonomic Status
Domesticated
Taxon A
Latin Name
Equus caballus
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
Equus () - (Rank: subgenus)
NCBI Taxonomy ID
9796
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Equus caballus
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
Equus () - (Rank: subgenus)
NCBI Taxonomy ID
9796
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
String
10090.ENSMUSP00000005815
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Molecular Function
GO:0004888 : transmembrane signaling receptor activity ... show more
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
GO - Cellular Component
GO:0005886 : plasma membrane ... show more
UniProtKB
Mus musculus
P05532
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Coding
Aberration Type
Deletion
Deletion Size
1-9 bp
Molecular Details of the Mutation
c.2369delC p.Ala790Glufs*20
Experimental Evidence
Candidate Gene
Main Reference
A novel KIT variant in an Icelandic horse with white-spotted coat colour. (2015)
Authors
Haase B; Jagannathan V; Rieder S; Leeb T
Abstract
-
Additional References
RELATED GEPHE
Related Genes
13 (Agouti, Endothelin receptor B, MC1R, MFSD12, Microphtalmia-associated transcription factor, Pax3, PMEL17, SLC24A, SLC36A1, SLC45A2=MATP, syntaxin-17, T-box transcription factor (TBX3), TRPM1)
Related Haplotypes
28
EXTERNAL LINKS
COMMENTS
@AllelicSeries @HeterozygoteAdvantage https://omia.org/OMIA000209/9796/
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