Entity Details

Primary name KITLG
Entity type gene
Source Source Link

Details

PrimaryID4254
RefseqGeneNG_012098
SymbolKITLG
NameKIT ligand
Chromosome12
Location12q21.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-06-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSCF_HUMAN

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0001541 ovarian follicle development
GO:0001755 neural crest cell migration
GO:0002687 positive regulation of leukocyte migration
GO:0002763 positive regulation of myeloid leukocyte differentiation
GO:0005125 cytokine activity
GO:0005173 stem cell factor receptor binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0007155 cell adhesion
GO:0008083 growth factor activity
GO:0008284 positive regulation of cell population proliferation
GO:0008584 male gonad development
GO:0016021 integral component of membrane
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0033026 negative regulation of mast cell apoptotic process
GO:0035162 embryonic hemopoiesis
GO:0035234 ectopic germ cell programmed cell death
GO:0043406 positive regulation of MAP kinase activity
GO:0045636 positive regulation of melanocyte differentiation
GO:0046579 positive regulation of Ras protein signal transduction
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0051897 positive regulation of protein kinase B signaling
GO:0070668 positive regulation of mast cell proliferation
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand
GO:1901534 positive regulation of hematopoietic progenitor cell differentiation
GO:1902035 positive regulation of hematopoietic stem cell proliferation

Diseases

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Disease IDSourceNameDescription
616697 OMIMDeafness, congenital, unilateral or asymmetric (DCUA)An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss. The disease is caused by variants affecting the gene represented in this entry.
145250 OMIMHyperpigmentation with or without hypopigmentation, familial progressive (FPHH)A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. The disease is caused by variants affecting the gene represented in this entry.