ASIP (agouti signaling protein)

2003-06-01  

Identity

HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
AGSW,AGTI,AGTIL,ASP,SHEP9
FUSION GENES

Other Information

Locus ID:

NCBI: 434
MIM: 600201
HGNC: 745
Ensembl: ENSG00000101440

Variants:

dbSNP: 434
ClinVar: 434
TCGA: ENSG00000101440
COSMIC: ASIP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101440ENST00000374954P42127
ENSG00000101440ENST00000568305P42127

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
MelanogenesisKEGGko04916
MelanogenesisKEGGhsa04916

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205856272010Web-based, participant-driven studies yield novel genetic associations for common traits.155
184880272008ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.118
184880272008ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.118
184880282008Two newly identified genetic determinants of pigmentation in Europeans.115
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
193849532009Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.67
193849532009Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.67
197106842010Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.66
159989532005MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.49
157264152005The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.41

Citation

Dessen P

ASIP (agouti signaling protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/714/asip