Gene Gene information from NCBI Gene database.
Entrez ID 4254
Gene name KIT ligand
Gene symbol KITLG
Synonyms (NCBI Gene)
DCUADFNA69FPH2FPHHKL-1KitlMGFSCFSFSHEP7SLFWS2F
Chromosome 12
Chromosome location 12q21.32
Summary 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.
6
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.
586
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
184745 6343 ENSG00000049130
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 69 Likely pathogenic rs2499184366 RCV003335840
Hyperpigmentation with or without hypopigmentation, familial progressive Pathogenic; Likely pathogenic rs1057520539, rs730882156, rs730882157, rs2499184191, rs121918653 RCV002291093
RCV000162036
RCV000162037
RCV002468729
RCV000013661
Waardenburg syndrome, IIa 2F Pathogenic rs1870699640, rs751013211, rs1404903521 RCV002260949
RCV002260950
RCV002260951
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs201969446 RCV005915612
KITLG-related disorder Uncertain significance; Likely benign; Benign rs746162770, rs2499146186, rs1263393773, rs769039249, rs3741457 RCV003402954
RCV003909333
RCV003982668
RCV003964559
RCV003910755
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN Affects; Benign; Likely benign rs12821256, rs642742, rs11428619 RCV000013659
RCV000013660
RCV002491302
Associations from Text MiningDisease 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