Kit Gene Summary [Mouse]
The c-Kit proto-oncogene is the cellular homolog of the transforming gene of a feline retrovirus (v-Kit). The c-kit protein includes characteristics of a protein kinase transmembrane receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | Kit |
| Official Name | KIT proto-oncogene receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:96677] |
| Ensembl ID | ENSMUSG00000005672 |
| Bio databases IDs | |
| Aliases | KIT proto-oncogene receptor tyrosine kinase |
| Synonyms | Ack2, Bs, CD117, c-KIT, C-Kit1, c-Kit Gnnk+, Fdc, Gsfsco1, Gsfsco5, Gsfsow3, KIT proto-oncogene receptor tyrosine kinase, KIT proto-oncogene, receptor tyrosine kinase, MASTC, PBT, SCFR, SCO1, SCO5, SCR, SOW3, Ssm, white-spotted |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Kit often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PI3K binding domain
- phosphotransferase domain
- cytokine binding
- protein-tyrosine kinase
- Protein kinase domain
- kinase insertion domain
- activation loop
- ATP-binding pocket
- cytoplasmic domain
- ligand-binding domain
- stem cell factor receptor
- Immunoglobulin like
- intracellular domain
- immunoglobulin-like protein domain
- tail domain
- membrane-proximal domain
- Tyrosine kinase, catalytic domain
- transmembrane receptor
- extracellular domain
- Protein kinase (unclassified specificity)
- dimerization domain
- protease binding
- catalytic domain
- Protein tyrosine and serine/threonine kinase
- SH2-domain binding
- immunoglobulin domain
- ectodomain
- Immunoglobulin I-set domain
- autophosphorylation site
- protein binding
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- Protein Kinases, catalytic domain
- transmembrane receptor protein tyrosine kinase
- PLC gamma1 protein binding domain
- transmembrane domain
- tyrosine kinase domain
- protein homodimerization
Pathways
Biological processes and signaling networks where the Kit gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- epithelial cancer
- cancer
- neoplasia
- rheumatoid arthritis
- systemic lupus erythematosus
- schizophrenia
- COVID-19
- hyperplasia
- airway hyperresponsiveness
phenotypes
- Leydig cell hyperplasia
- abnormal B cell differentiation
- abnormal Sertoli cell morphology
- abnormal T cell differentiation
- abnormal action potential
- abnormal body temperature
- abnormal caput epididymis morphology
- abnormal cecum morphology
- abnormal circulating histamine level
- abnormal coat/hair pigmentation
- abnormal cochlea morphology
- abnormal cochlear ganglion morphology
- abnormal cochlear outer hair cell morphology
- abnormal definitive hematopoiesis
- abnormal digestive system morphology
- abnormal digestive system physiology
- abnormal ear pigmentation
- abnormal erythrocyte cell number
- abnormal erythrocyte morphology
- abnormal erythroid progenitor cell morphology
- abnormal erythropoiesis
- abnormal esophagus morphology
- abnormal eye pigmentation
- abnormal female germ cell morphology
- abnormal female reproductive system morphology
- abnormal foot pigmentation
- abnormal interferon level
- abnormal interleukin level
- abnormal interstitial cell of Cajal morphology
- abnormal male germ cell morphology
- abnormal male reproductive system morphology
- abnormal male reproductive system physiology
- abnormal mast cell physiology
- abnormal melanoblast migration
- abnormal melanoblast morphology
- abnormal melanocyte morphology
- abnormal melanosome morphology
- abnormal muscle physiology
- abnormal myenteric nerve plexus morphology
- abnormal oocyte morphology
- abnormal organ of Corti morphology
- abnormal otolith morphology
- abnormal ovarian follicle morphology
- abnormal ovarian follicle number
- abnormal ovarian folliculogenesis
- abnormal ovary morphology
- abnormal primordial germ cell migration
- abnormal primordial germ cell morphology
- abnormal primordial ovarian follicle morphology
- abnormal proerythroblast morphology
- abnormal renal glomerulus morphology
- abnormal response to transplant
- abnormal response/metabolism to endogenous compounds
- abnormal seminiferous tubule morphology
- abnormal skin pigmentation
- abnormal spermatogenesis
- abnormal spermatogonia proliferation
- abnormal stria vascularis morphology
- abnormal stria vascularis vasculature morphology
- abnormal strial basal cell morphology
- abnormal strial marginal cell morphology
- abnormal survival
- abnormal tectorial membrane morphology
- abnormal vascular permeability
- abnormal ventral coat pigmentation
- abnormal vestibular saccule morphology
- absent coat pigmentation
- absent endocochlear potential
- absent oocytes
- absent ovarian follicles
- absent skin pigmentation
- absent strial intermediate cells
- alopecia
- altered response to myocardial infarction
- anemia
- arrest of spermatogenesis
- arrested B cell differentiation
- asthenozoospermia
- azoospermia
- belly blaze
- belly spot
- belted
- cochlear ganglion degeneration
- cochlear hair cell degeneration
- constricted vagina orifice
- deafness
- decreased B cell number
- decreased Cajal-Retzius cell number
- decreased airway responsiveness
- decreased basophil cell number
- decreased body weight
- decreased bone marrow cell number
- decreased circulating HDL cholesterol level
- decreased circulating LDL cholesterol level
- decreased circulating cholesterol level
- decreased ear pigmentation
- decreased epididymis weight
- decreased erythrocyte cell number
- decreased fetal size
- decreased hematocrit
- decreased hemoglobin content
- decreased inflammatory response
- decreased litter size
- decreased male germ cell number
- decreased mast cell degranulation
- decreased mast cell number
- decreased mean corpuscular volume
- decreased physiological sensitivity to xenobiotic
- decreased primordial germ cell proliferation
- decreased survivor rate
- decreased susceptibility to induced arthritis
- decreased susceptibility to type I hypersensitivity reaction
- decreased tail pigmentation
- decreased testis weight
- decreased thymocyte number
- decreased tumor growth/size
- decreased vascular permeability
- delayed female fertility
- diluted coat color
- distended abdomen
- distended cecum
- distended ileum
- distended stomach
- embryonic lethality before implantation complete penetrance
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality during organogenesis incomplete penetrance
- embryonic lethality complete penetrance
- enlarged cecum
- enlarged otoliths
- enlarged spleen
- female infertility
- glomerular crescent
- head blaze
- head spot
- hepatic steatosis
- high mean erythrocyte cell number
- hyperpigmentation
- impaired behavioral response to xenobiotic
- impaired neutrophil recruitment
- impaired ovarian folliculogenesis
- increased B cell number
- increased bleeding time
- increased circulating luteinizing hormone level
- increased erythroblast number
- increased erythrocyte cell number
- increased erythrocyte protoporphyrin level
- increased erythroid progenitor cell number
- increased esophageal papilloma incidence
- increased gastrointestinal stromal tumor incidence
- increased gastrointestinal tumor incidence
- increased hematocrit
- increased hemoglobin content
- increased mast cell degranulation
- increased mast cell number
- increased mean corpuscular hemoglobin
- increased mean corpuscular hemoglobin concentration
- increased mean corpuscular volume
- increased mean platelet volume
- increased megakaryocyte cell number
- increased myocardial infarction size
- increased or absent threshold for auditory brainstem response
- increased papilloma incidence
- increased physiological sensitivity to xenobiotic
- increased sensitivity to induced morbidity/mortality
- increased sensitivity to xenobiotic induced morbidity/mortality
- increased susceptibility to parasitic infection
- increased tumor growth/size
- increased urine protein level
- infertility
- interstitial cells of Cajal hyperplasia
- intestinal obstruction
- irregular coat pigmentation
- kidney inflammation
- lethality at weaning incomplete penetrance
- lethality throughout fetal growth and development complete penetrance
- lethality incomplete penetrance
- low mean erythrocyte cell number
- macrocytic anemia
- macrocytosis
- male infertility
- meteorism
- microcytic anemia
- neonatal lethality complete penetrance
- neonatal lethality incomplete penetrance
- non-pigmented tail tip
- oligozoospermia
- organ of Corti degeneration
- ovary cysts
- ovary hyperplasia
- pallor
- peptic ulcer
- perinatal lethality
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- polycythemia
- postnatal growth retardation
- postnatal lethality
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality
- prenatal lethality complete penetrance
- prenatal lethality incomplete penetrance
- preweaning lethality incomplete penetrance
- reddish skin
- reduced female fertility
- reduced fertility
- reduced male fertility
- reversion by mitotic recombination
- slow postnatal weight gain
- small cecum
- small ovary
- small testis
- spleen hyperplasia
- spleen hypoplasia
- testis hypoplasia
- thin stria vascularis
- thrombocytosis
- variable body spotting
- variable depigmentation
- vestibular hair cell degeneration
- white spotting
role in cell
- differentiation
- binding in
- number
- expression in
- quantity
- phosphorylation in
- proliferation
- apoptosis
- activation
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- fibrillar center
- Cytoplasm
- cell surface
- Extracellular Space
- membrane surface
- cellular membrane
- Nucleus
- vesicles
- intercellular junctions
- cell-cell contacts
- cytoplasmic face of plasma membrane
- plasma membrane extracellular face
- sperm tail
- acrosome
- sperm head
- cytoplasmic droplets
- membrane rafts
- membrane processes
- perikaryon
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Kit gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- male gonad development
- embryonic hemopoiesis
- protein autophosphorylation
- visual learning
- negative regulation of developmental process
- negative regulation of programmed cell death
- positive regulation of tyrosine phosphorylation of STAT protein
- tongue development
- mast cell degranulation
- positive regulation of sequence-specific DNA binding transcription factor activity
- lymphoid progenitor cell differentiation
- hemopoietic progenitor cell differentiation
- glycosphingolipid metabolic process
- cell chemotaxis
- inflammatory response
- epithelial cell proliferation
- digestive tract development
- pigmentation
- myeloid progenitor cell differentiation
- detection of mechanical stimulus involved in sensory perception of sound
- Kit signaling pathway
- intracellular signal transduction
- positive regulation of mast cell cytokine production
- stem cell maintenance
- germ cell programmed cell death
- B cell differentiation
- positive regulation of pseudopodium assembly
- germ cell migration
- positive regulation of JAK-STAT cascade
- T cell differentiation
- erythrocyte differentiation
- immature B cell differentiation
- hematopoietic stem cell migration
- negative regulation of reproductive process
- positive regulation of protein kinase B signaling cascade
- positive regulation of cell migration
- positive regulation of long-term neuronal synaptic plasticity
- positive regulation of MAP kinase activity
- regulation of cell shape
- multicellular organismal development
- hemopoiesis
- positive regulation of Notch signaling pathway
- Fc receptor signaling pathway
- positive regulation of dendritic cell cytokine production
- stem cell differentiation
- mast cell proliferation
- cytokine-mediated signaling pathway
- somatic stem cell maintenance
- megakaryocyte development
- positive regulation of mast cell proliferation
- mast cell differentiation
- spermatid development
- signal transduction
- spermatogenesis
- response to cadmium ion
- erythropoietin-mediated signaling pathway
- positive regulation of MAPK cascade
- mast cell chemotaxis
- regulation of cell proliferation
- ovarian follicle development
- melanocyte differentiation
- lamellipodium assembly
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cell-cell junction
- acrosomal vesicle
- external side of plasma membrane
- receptor complex
- fibrillar center
- plasma membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- growth factor binding
- protein tyrosine kinase activity
- protein binding
- protein homodimerization activity
- metal ion binding
- transmembrane receptor protein tyrosine kinase activity
- stem cell factor receptor activity
- protease binding
- SH2 domain binding
- cytokine binding