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    KITLG KIT ligand [ Homo sapiens (human) ]

    Gene ID: 4254, updated on 24-Sep-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KITLG in Genome Data Viewer
    Location:
    12q21.32
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (88492793..88580471, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (88474752..88562405, complement)
    RS_2024_09 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 suppressyn-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:88637506-88638084 Neighboring gene MPRA-validated peak1868 silencer Neighboring gene MPRA-validated peak1869 silencer Neighboring gene uncharacterized LOC124902978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6702 Neighboring gene MPRA-validated peak1870 silencer Neighboring gene Sharpr-MPRA regulatory region 14654 Neighboring gene uncharacterized LOC124902979 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:88953161-88954360 Neighboring gene uncharacterized LOC105369885 Neighboring gene RNA, U1 small nuclear 117, pseudogene Neighboring gene uncharacterized LOC105369886

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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, IIa 2F
    MedGen: C5677013 OMIM: 619947 GeneReviews: Not available
    Compare labs

    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

    Clone Names

    • DKFZp686F2250

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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 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
     
    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
     
    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
      A0AV09, A8K2Q4, B7ZLM4, P21583, Q16487, Q68DZ2, Q7M4N8, Q9UQK7
      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
      Related
      ENSP00000054216.5, ENST00000347404.10
      Conserved Domains (1) summary
      pfam02404
      Location:1245
      SCF; Stem cell factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)