Gene Gene information from NCBI Gene database.
Entrez ID 9370
Gene name Adiponectin, C1Q and collagen domain containing
Gene symbol ADIPOQ
Synonyms (NCBI Gene)
ACDCACRP30ADIPQTL1ADPNAPM-1APM1GBP28
Chromosome 3
Chromosome location 3q27.3
Summary This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs876661321 G>T Risk-factor Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
291
miRTarBase ID miRNA Experiments Reference
MIRT691125 hsa-miR-383-3p HITS-CLIP 23313552
MIRT691124 hsa-miR-6087 HITS-CLIP 23313552
MIRT691123 hsa-miR-214-5p HITS-CLIP 23313552
MIRT691122 hsa-miR-6811-3p HITS-CLIP 23313552
MIRT691121 hsa-miR-3656 HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
PPARG Activation 20484463
PPARG Unknown 18373719;19833717
SP1 Activation 12378384
TFAP2B Repression 19325541
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
124
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0001934 Process Positive regulation of protein phosphorylation IDA 18431508
GO:0005102 Function Signaling receptor binding IEA
GO:0005102 Function Signaling receptor binding ISS 12368907
GO:0005125 Function Cytokine activity NAS 12611609
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605441 13633 ENSG00000181092
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15848
Protein name Adiponectin (30 kDa adipocyte complement-related protein) (Adipocyte complement-related 30 kDa protein) (ACRP30) (Adipocyte, C1q and collagen domain-containing protein) (Adipose most abundant gene transcript 1 protein) (apM-1) (Gelatin-binding protein)
Protein function Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal mus
PDB 4DOU , 6U66 , 6U6N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 37 108 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 114 239 C1q domain Domain
Tissue specificity TISSUE SPECIFICITY: Synthesized exclusively by adipocytes and secreted into plasma. {ECO:0000269|PubMed:8947845}.
Sequence
Sequence length 244
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
45
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adiponectin deficiency Pathogenic rs121917815, rs777532127 RCV003227598
RCV003228146
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ADIPOQ-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 26860691, 29190629
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 26860691, 29190629
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 28824624, 31827477
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 22887729, 28195387, 29305337, 29903845
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16404369, 30696312, 31415396
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 10961870
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 19696691
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18313838
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24636346
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18313838, 24330848
★☆☆☆☆
Found in Text Mining only