Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	434
Gene name	Agouti signaling protein
Gene symbol	ASIP
Synonyms (NCBI Gene)	AGSWAGTIAGTILASPSHEP9
Chromosome	20
Chromosome location	20q11.22
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 mous

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016804	hsa-miR-335-5p	Microarray	18185580
MIRT802999	hsa-miR-1258	CLIP-seq
MIRT803000	hsa-miR-146b-3p	CLIP-seq
MIRT803001	hsa-miR-3162-5p	CLIP-seq
MIRT803002	hsa-miR-4447	CLIP-seq
MIRT803003	hsa-miR-4472	CLIP-seq
MIRT803004	hsa-miR-4481	CLIP-seq
MIRT803005	hsa-miR-4488	CLIP-seq
MIRT803006	hsa-miR-4632	CLIP-seq
MIRT803007	hsa-miR-4697-5p	CLIP-seq
MIRT803008	hsa-miR-4745-5p	CLIP-seq
MIRT803009	hsa-miR-671-5p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	TAS	7757071
GO:0005184	Function	Neuropeptide hormone activity	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	36536132
GO:0005615	Component	Extracellular space	TAS	7937887
GO:0006091	Process	Generation of precursor metabolites and energy	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	7937887
GO:0007165	Process	Signal transduction	TAS	7757071
GO:0007267	Process	Cell-cell signaling	TAS	7757071
GO:0008343	Process	Adult feeding behavior	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0031779	Function	Melanocortin receptor binding	IBA
GO:0031779	Function	Melanocortin receptor binding	IEA
GO:0031781	Function	Type 3 melanocortin receptor binding	IEA
GO:0031782	Function	Type 4 melanocortin receptor binding	IEA
GO:0032402	Process	Melanosome transport	IEA
GO:0032438	Process	Melanosome organization	IBA
GO:0032438	Process	Melanosome organization	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042438	Process	Melanin biosynthetic process	ISS
GO:0043473	Process	Pigmentation	IEA
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IEA
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IEA

MIM	HGNC	e!Ensembl
600201	745	ENSG00000101440

P42127

Protein name

Agouti-signaling protein (ASP) (Agouti switch protein)

Protein function

Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthes

PDB

1Y7J , 1Y7K , 2KZA , 2L1J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05039	Agouti	42 → 128	Agouti protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low levels. Highly expressed in the skin. Expressed in adipose tissue. {ECO:0000269|PubMed:36536132, ECO:0000269|PubMed:7757071, ECO:0000269|PubMed:7937887}.

Sequence

MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSK
QIGRKAAEKKRSSKKEASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFR
SACSCRVLSLNC

Sequence length

132

Interactions

View interactions

	KEGG
	Melanogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (39)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASIP-related condition	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VENO-OCCLUSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR	association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ASIP (agouti signaling protein)