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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 this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
ADIPOQ (Adiponectin, C1Q And Collagen Domain Containing) is a Protein Coding gene. Diseases associated with ADIPOQ include Adiponectin, Serum Level Of, Quantitative Trait Locus 1 and Acquired Generalized Lipodystrophy. Among its related pathways are Integration of energy metabolism and Mesenchymal Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and signaling receptor binding. An important paralog of this gene is C1QTNF9B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | ISS | 12368907 |
GO:0005125 | cytokine activity | NAS | 12611609 |
GO:0005179 | hormone activity | IDA | 11222466 |
GO:0005201 | extracellular matrix structural constituent | RCA | 28675934 |
GO:0005515 | protein binding | IPI | 12070119 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005615 | extracellular space | IEA,IDA | 10403784 |
GO:0005783 | endoplasmic reticulum | IEA,ISS | -- |
GO:0009986 | cell surface | IDA | 10982546 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | AMP-activated Protein Kinase (AMPK) Signaling | ||
2 | Type II diabetes mellitus | ||
3 | Integration of energy metabolism | ||
4 | Glucose / Energy Metabolism | ||
5 | Adipocytokine signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0001934 | positive regulation of protein phosphorylation | IDA | 18431508 |
GO:0006006 | glucose metabolic process | IEA,ISS | 12368907 |
GO:0006091 | generation of precursor metabolites and energy | TAS | 10095105 |
GO:0006635 | fatty acid beta-oxidation | ISS | 12368907 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADIPOQ 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADIPOQ 30 |
|
||
APM1 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | ADIPOQ 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Adipoq 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Adipoq 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ADIPOQ 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ADIPOQ 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ADIPOQ 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ADIPOQ 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adipoq 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | adipoqb 30 31 |
|
OneToMany | |
adipoqa 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721271 | Likely Benign: not provided | 186,853,079(+) | TCTA/T | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION | |
725273 | Benign: not provided | 186,853,171(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
730481 | Likely Benign: not provided | 186,854,218(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
789279 | Likely Benign: not provided | 186,854,237(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs121917815 | Pathogenic: Hypoadiponectinemia. Adiponectin deficiency (ADPND) [MIM:612556] | 186,854,303(+) | C/Tp.Arg112Cys | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759206 | CNV | loss | 17122850 |
esv34136 | CNV | loss | 18971310 |
esv3598999 | CNV | gain | 21293372 |
esv3893839 | CNV | gain | 25118596 |
nsv1001111 | CNV | gain | 25217958 |
nsv1010626 | CNV | loss | 25217958 |
nsv1012615 | CNV | gain | 25217958 |
nsv246 | CNV | deletion | 15895083 |
nsv4155 | CNV | deletion | 18451855 |
nsv508263 | CNV | deletion | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adiponectin, serum level of, quantitative trait locus 1 |
|
|
acquired generalized lipodystrophy |
|
|
glucose intolerance |
|
|
fatty liver disease |
|
|
gestational diabetes |
|