Property Summary

NCBI Gene PubMed Count 39
Grant Count 28
R01 Count 13
Funding $2,343,115.82
PubMed Score 52.35
PubTator Score 58.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
ovarian cancer 1.100 0.000
psoriasis -1.700 0.000

Gene RIF (34)

PMID Text
25801600 Polymorphisms of ASIP were found to be associated with skin, hair, and eye color in a phenotypically diverse Brazilian population. More research is needed to determine its usefulness in forensic science.
25705849 ASIP gene mutation is involved in the development of facial pigmented lesions.
25382380 Data show that ASIP TG/TG diplotype, which is known to be associated with melanoma risk, was linked to a 5-fold increase in hazard of death from melanoma.
22628150 An increased risk of melanoma (odds ratio [OR] 1.27, 95% confidence interval [95% CI] 1.03-1.57) in carriers of the rs4911414 variant, located 120 kb upstream of ASIP.
22447455 By using a population-based material of high-risk melanoma cases, we demonstrate a significant effect of both MC1R red hair color (RHC) variants and an ASIP haplotype, but could not replicate an association with postulated risk SNPs of TYR and TYRP1.
21221757 Findings suggest that ASIP locus is associated with a number of non-melanoma skin cancers.
20831872 Further analysis of binding and functional data suggests that the ASIP C-terminal loop (a six-amino-acid segment closed by the final disulfide bond) is essential for high-affinity MC1R binding and inverse agonism.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20585627 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSKQIGRKAAEKK      1 - 70
RSSKKEASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFRSACSCRVLSLNC             71 - 132
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Text Mined References (40)

PMID Year Title
25801600 2015 SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes.
25705849 2015 A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.
25382380 2015 Inherited variation at MC1R and ASIP and association with melanoma-specific survival.
23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
22976474 2012 A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
22628150 2013 Variants at chromosome 20 (ASIP locus) and melanoma risk.
22447455 2012 MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.
21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.
21221757 2011 ASIP genetic variants and the number of non-melanoma skin cancers.
20831872 2010 Loop-swapped chimeras of the agouti-related protein and the agouti signaling protein identify contacts required for melanocortin 1 receptor selectivity and antagonism.
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