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KITLG KIT ligand [ Homo sapiens (human) ]

Gene ID: 4254, updated on 22-Sep-2022

Summary

Official Symbol
KITLGprovided by HGNC
Official Full Name
KIT ligandprovided by HGNC
Primary source
HGNC:HGNC:6343
See related
Ensembl:ENSG00000049130 MIM:184745; AllianceGenome:HGNC:6343
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SF; MGF; SCF; SLF; DCUA; FPH2; FPHH; KL-1; Kitl; WS2F; SHEP7; DFNA69
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 adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lung (RPKM 24.5), colon (RPKM 14.0) and 22 other tissues See more
Orthologs
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Genomic context

See KITLG in Genome Data Viewer
Location:
12q21.32
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (88492793..88580471, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (88474752..88562405, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (88886570..88974248, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902978 Neighboring gene Sharpr-MPRA regulatory region 14654 Neighboring gene uncharacterized LOC124902979 Neighboring gene RNA, U1 small nuclear 117, pseudogene Neighboring gene uncharacterized LOC105369885

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal dominant nonsyndromic hearing loss 69
MedGen: C4225241 OMIM: 616697 GeneReviews: Not available
Compare labs
Hyperpigmentation with or without hypopigmentation, familial progressive
MedGen: C1840392 OMIM: 145250 GeneReviews: Not available
Compare labs
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
MedGen: C2674081 OMIM: 611664 GeneReviews: Not available
Compare labs
Waardenburg syndrome, type 2F
MedGen: CN315606 OMIM: 619947 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
A genome-wide association study of testicular germ cell tumor.
EBI GWAS Catalog
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
EBI GWAS Catalog
Genetic determinants of hair, eye and skin pigmentation in Europeans.
EBI GWAS Catalog
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
EBI GWAS Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
EBI GWAS Catalog
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
EBI GWAS Catalog
Seventy-five genetic loci influencing the human red blood cell.
EBI GWAS Catalog
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686F2250

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables stem cell factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in ectopic germ cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic hemopoiesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
involved_in hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in mast cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in mast cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in mast cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in melanocyte migration IEA
Inferred from Electronic Annotation
more info
 
involved_in myeloid leukocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of mast cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
involved_in peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of hematopoietic progenitor cell differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of hematopoietic stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of mast cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of myeloid leukocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
kit ligand
Names
c-Kit ligand
familial progressive hyperpigmentation 2
mast cell growth factor
steel factor
stem cell factor
NP_000890.1
NP_003985.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012098.2 RefSeqGene

    Range
    4991..92669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1379

mRNA and Protein(s)

  1. NM_000899.5NP_000890.1  kit ligand isoform b precursor

    See identical proteins and their annotated locations for NP_000890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) encodes the longer isoform (b) which contains the primary proteolytic-cleavage site; as a result, isoform b is largely a soluble product.
    Source sequence(s)
    AC024941, AK025245, BC126166, DC320486
    Consensus CDS
    CCDS31868.1
    UniProtKB/Swiss-Prot
    P21583, Q9UQK7
    UniProtKB/TrEMBL
    A0A024RBC0
    Related
    ENSP00000495951.1, ENST00000644744.1
    Conserved Domains (1) summary
    pfam02404
    Location:1273
    SCF; Stem cell factor
  2. NM_003994.6NP_003985.2  kit ligand isoform a precursor

    See identical proteins and their annotated locations for NP_003985.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) lacks an alternate in-frame exon, compared to variant b. Isoform a lacks the primary proteolytic-cleavage site; as a result, the protein encoded by isoform a is largely a membrane bound product.
    Source sequence(s)
    AC024941, AK025245, BC143899, DC320486
    Consensus CDS
    CCDS31867.1
    UniProtKB/Swiss-Prot
    P21583
    UniProtKB/TrEMBL
    A0A024RBF5
    Related
    ENSP00000054216.5, ENST00000347404.10
    Conserved Domains (1) summary
    pfam02404
    Location:1245
    SCF; Stem cell factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    88492793..88580471 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    88474752..88562405 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)