Gene: KITLG

Alternate names for this Gene: DCUA|DFNA69|FPH2|FPHH|KL-1|Kitl|MGF|SCF|SF|SHEP7|SLF

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.32

Description of this Gene: KIT ligand

Type of Gene: protein-coding

rs121918653 in KITLG gene and HYPERPIGMENTATION, FAMILIAL PROGRESSIVE PMID 19375057 2009 Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.

rs1907703 in KITLG gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs1022034 in KITLG gene and Malignant Testicular Germ Cell Tumor PMID 20543847 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

rs11104952 in KITLG gene and Malignant neoplasm of testis PMID 21551455 2011 A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.

PMID 19483682 2009 Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.

rs4474514 in KITLG gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs3782181 in KITLG gene and Testicular Germ Cell Tumor PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

PMID 28604732 2017 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

PMID 23666239 2013 Meta-analysis identifies four new loci associated with testicular germ cell tumor.

PMID 19483681 2009 A genome-wide association study of testicular germ cell tumor.

rs3782181 in KITLG gene and Testicular Neoplasms PMID 20543847 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

PMID 19483682 2009 Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.

PMID 23666239 2013 Meta-analysis identifies four new loci associated with testicular germ cell tumor.

PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

PMID 19483681 2009 A genome-wide association study of testicular germ cell tumor.