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    KITLG KIT ligand [ Homo sapiens (human) ]

    Gene ID: 4254, updated on 10-Dec-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
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    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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    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

    General gene information

    Clone Names

    • DKFZp686F2250

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity  
    enables growth factor activity  
    enables protein binding PubMed 
    enables stem cell factor receptor binding  
    Items 1 - 25 of 28
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction  
    involved_in T cell proliferation  
    involved_in cell adhesion  
    involved_in ectopic germ cell programmed cell death  
    involved_in embryonic hemopoiesis PubMed 
    involved_in extrinsic apoptotic signaling pathway in absence of ligand  
    involved_in hematopoietic progenitor cell differentiation  
    involved_in male gonad development PubMed 
    involved_in mast cell apoptotic process  
    involved_in mast cell migration  
    involved_in mast cell proliferation  
    involved_in melanocyte migration  
    involved_in myeloid leukocyte differentiation  
    involved_in negative regulation of mast cell apoptotic process  
    involved_in neural crest cell migration  
    involved_in ovarian follicle development  
    involved_in positive regulation of Ras protein signal transduction  
    involved_in positive regulation of T cell proliferation  
    involved_in positive regulation of cell population proliferation  
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of hematopoietic progenitor cell differentiation PubMed 
    involved_in positive regulation of hematopoietic stem cell proliferation  
    involved_in positive regulation of leukocyte migration  
    involved_in positive regulation of mast cell proliferation  
    involved_in positive regulation of melanocyte differentiation  
    involved_in positive regulation of myeloid leukocyte differentiation  
    involved_in positive regulation of peptidyl-tyrosine phosphorylation  
    involved_in response to organic cyclic compound  
    Items 1 - 25 of 28
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in cytoskeleton  
    located_in extracellular region  
    located_in extracellular space  
    located_in filopodium PubMed 
    located_in lamellipodium PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    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)
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