Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4254
Gene name Gene Name - the full gene name approved by the HGNC.
KIT ligand
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KITLG
Synonyms (NCBI Gene) Gene synonyms aliases
DCUA, DFNA69, FPH2, FPHH, KL-1, Kitl, MGF, SCF, SF, SHEP7, SLF, WS2F
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918653 T>C Pathogenic Coding sequence variant, missense variant
rs730882156 A>G Pathogenic Coding sequence variant, missense variant
rs730882157 T>G Pathogenic Coding sequence variant, missense variant
rs864309653 TATGATGGAATAATTACT>A Pathogenic Stop gained, coding sequence variant
rs864309654 AAT>- Pathogenic Inframe indel, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046574 hsa-miR-222-3p CLASH 23622248
MIRT045352 hsa-miR-185-5p CLASH 23622248
MIRT702416 hsa-miR-583 HITS-CLIP 23313552
MIRT702415 hsa-miR-3121-3p HITS-CLIP 23313552
MIRT702414 hsa-miR-16-1-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IEA
GO:0001755 Process Neural crest cell migration IEA
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0002573 Process Myeloid leukocyte differentiation IEA
GO:0002687 Process Positive regulation of leukocyte migration IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
184745 6343 ENSG00000049130
Protein
UniProt ID P21583
Protein name Kit ligand (Mast cell growth factor) (MGF) (Stem cell factor) (SCF) (c-Kit ligand) [Cleaved into: Soluble KIT ligand (sKITLG)]
Protein function Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in me
PDB 1EXZ , 1SCF , 2E9W , 8DFM , 8DFP , 8DFQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02404 SCF 1 273 Stem cell factor Domain
Sequence
Sequence length 273
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Hematopoietic cell lineage
Melanogenesis
Pathways in cancer
  PIP3 activates AKT signaling
Signaling by SCF-KIT
Regulation of KIT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Progressive Hyper And Hypopigmentation Hyperpigmentation with or without hypopigmentation, familial progressive rs121918653, rs730882156, rs730882157 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deafness Autosomal dominant nonsyndromic hearing loss 69, autosomal dominant nonsyndromic hearing loss 69, autosomal dominant nonsyndromic hearing loss N/A N/A ClinVar, GenCC
Progressive Hyperpigmentation familial progressive hyperpigmentation N/A N/A GenCC
Testicular Germ Cell Tumor Testicular germ cell tumor N/A N/A GWAS
Waardenburg Syndrome Waardenburg syndrome, IIa 2F, Waardenburg syndrome type 2 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aarskog Syndrome Associate 20045932
Adenocarcinoma Associate 30402808
Adenocarcinoma of Lung Associate 15627886
Adenocarcinoma of Lung Stimulate 25401222
Adenoma Pleomorphic Associate 34884420
Albinism Associate 8889703
Amyotrophic Lateral Sclerosis Associate 29021214, 37243816
Anemia Associate 12637332, 31207479, 7678508, 8889703
Anemia Aplastic Associate 1375845, 1378317
Anemia Diamond Blackfan Associate 12718904, 9292545