ASIP (agouti signaling protein)

2003-06-01  

Identity

HGNC
ASIP
LOCATION
20q11.22
LOCUSID
434
ALIAS
AGSW,AGTI,AGTIL,ASP,SHEP9
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MelanogenesisKEGGko04916
MelanogenesisKEGGhsa04916

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
365361322022Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.6
365361322022Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.6
280052672017Human gingiva transcriptome during wound healing.14
280052672017Human gingiva transcriptome during wound healing.14
253823802015Inherited variation at MC1R and ASIP and association with melanoma-specific survival.15
257058492015A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.45
258016002015SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes.4
253823802015Inherited variation at MC1R and ASIP and association with melanoma-specific survival.15
257058492015A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.45
258016002015SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes.4
226281502013Variants at chromosome 20 (ASIP locus) and melanoma risk.14
226281502013Variants at chromosome 20 (ASIP locus) and melanoma risk.14
224474552012MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.10
224474552012MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.10
212217572011ASIP genetic variants and the number of non-melanoma skin cancers.3

Citation

Dessen P

ASIP (agouti signaling protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/714/js/welcome