KITLG KIT ligand
Gene ID: 4254, updated on 2-Nov-2024Gene type: protein coding
Also known as: SF; MGF; SCF; SLF; DCUA; FPH2; FPHH; KL-1; Kitl; WS2F; SHEP7; DFNA69
- See all available tests in GTR for this gene
- Go to complete Gene record for KITLG
- Go to Variation Viewer for KITLG variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of testicular germ cell tumor. GeneReviews: Not available | |
| Autosomal dominant nonsyndromic hearing loss 69 | See labs |
| Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. GeneReviews: Not available | |
| Genetic determinants of hair, eye and skin pigmentation in Europeans. GeneReviews: Not available | |
| Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. GeneReviews: Not available | |
| Hyperpigmentation with or without hypopigmentation, familial progressive | See labs |
| Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. GeneReviews: Not available | |
| Meta-analysis identifies four new loci associated with testicular germ cell tumor. GeneReviews: Not available | |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
| SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN | See labs |
| Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. GeneReviews: Not available | |
| Waardenburg syndrome, IIa 2F | See labs |
Genomic context
- Location:
- 12q21.32
- Sequence:
- Chromosome: 12; NC_000012.12 (88492793..88580471, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KITLG variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KITLG database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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