ASIP agouti signaling protein
Gene ID: 434, updated on 17-Aug-2024Gene type: protein coding
Also known as: ASP; AGSW; AGTI; AGTIL; SHEP9
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- Go to complete Gene record for ASIP
- Go to Variation Viewer for ASIP variants
Summary
In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. 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 | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR | See labs |
| Two newly identified genetic determinants of pigmentation in Europeans. GeneReviews: Not available | |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 20q11.22
- Sequence:
- Chromosome: 20; NC_000020.11 (34186493..34269344)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ASIP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ASIP database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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