ADIPOQ Gene (Protein Coding)

Adiponectin, C1Q And Collagen Domain Containing

GC03P186842
GIFtS:
45
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, hav... See more...

Aliases for ADIPOQ Gene

Aliases for ADIPOQ Gene

  • Adiponectin, C1Q And Collagen Domain Containing 2 3 5
  • Adiponectin 2 3 4
  • ACRP30 2 3 4
  • GBP28 2 3 4
  • Adipose Most Abundant Gene Transcript 1 Protein 3 4
  • 30 KDa Adipocyte Complement-Related Protein 3 4
  • Adipocyte Complement-Related 30 KDa Protein 3 4
  • ACDC 3 4
  • APM1 3 4
  • Adipocyte, C1q And Collagen Domain-Containing Protein 4
  • Adipocyte, C1Q And Collagen Domain Containing 2
  • Adipose Most Abundant Gene Transcript 1 2
  • Adipose Specific Collagen-Like Factor 3
  • Gelatin-Binding Protein 28 3
  • Gelatin-Binding Protein 4
  • Adiponectin Precursor 2
  • ADIPQTL1 3
  • ADIPOQ 5
  • APM-1 3
  • ApM-1 4
  • ADPN 3
  • ApM1 2

External Ids for ADIPOQ Gene

Previous HGNC Symbols for ADIPOQ Gene

  • ACDC

Previous GeneCards Identifiers for ADIPOQ Gene

  • GC03P188044
  • GC03P186560
  • GC03P183969

Summaries for ADIPOQ Gene

Entrez Gene Summary for ADIPOQ Gene

  • 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]

GeneCards Summary for ADIPOQ Gene

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 Fatty Liver Disease. Among its related pathways are PPAR signaling pathway and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and signaling receptor binding. An important paralog of this gene is C1QTNF9.

UniProtKB/Swiss-Prot Summary for ADIPOQ Gene

  • 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 muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW.

Gene Wiki entry for ADIPOQ Gene

Additional gene information for ADIPOQ Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADIPOQ Gene

Genomics for ADIPOQ Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ADIPOQ Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03J186842 Promoter 0.3 EPDnew 250.7 0.0 -13 0.1 ADIPOQ LINC02043 RFC4
GH03J186930 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +89.2 89248 4.7 BCLAF1 NCOR1 MYC ZNF600 IKZF1 ZNF592 ZNF223 POLR2A NFIC ZIC2 ST6GAL1 HSALNG0031399 lnc-ADIPOQ-2 lnc-ADIPOQ-3 SNORA4 RFC4 TRA2B TBCCD1 SNORA81 ADIPOQ
GH03J187019 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +182.0 182005 11 BCLAF1 NCOR1 IKZF1 ZNF580 ZNF592 POLR2A NFIC NONO SIN3A TARDBP ST6GAL1 ADIPOQ ADIPOQ-AS1 RTP4 EIF4A2 TBCCD1 RTP1 piR-38736-012 HSALNG0031404 lnc-ADIPOQ-4
GH03J187138 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 +296.8 296796 2.2 MYC ZNF600 POLR2A BRCA1 ZIC2 BCL11A REST SMAD5 TARDBP TRIM22 HSALNG0031407 RPL39L ADIPOQ RPL39P19 ST6GAL1
GH03J186995 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11 +159.5 159521 13.2 BCLAF1 SP1 ZNF207 NCOR1 JUND ZNF592 POLR2A NFIC BCL11A SMAD5 ADIPOQ-AS1 ADIPOQ HRG ST6GAL1 RTP1 lnc-ADIPOQ-4 piR-38736-012 RPL39L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADIPOQ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADIPOQ

Top Transcription factor binding sites by QIAGEN in the ADIPOQ gene promoter:
  • AML1a
  • C/EBPalpha
  • GATA-6
  • GR
  • GR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for ADIPOQ Gene

Latest Assembly
chr3:186,842,704-186,858,463
(GRCh38/hg38)
Size:
15,760 bases
Orientation:
Plus strand

Previous Assembly
chr3:186,560,499-186,576,252
(GRCh37/hg19 by Entrez Gene)
Size:
15,754 bases
Orientation:
Plus strand

chr3:186,560,463-186,576,252
(GRCh37/hg19 by Ensembl)
Size:
15,790 bases
Orientation:
Plus strand

Genomic View for ADIPOQ Gene

Genes around ADIPOQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADIPOQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADIPOQ Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADIPOQ Gene

Proteins for ADIPOQ Gene

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  • Protein details for ADIPOQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15848-ADIPO_HUMAN
    Recommended name:
    Adiponectin
    Protein Accession:
    Q15848
    Secondary Accessions:
    • Q58EX9

    Protein attributes for ADIPOQ Gene

    Size:
    244 amino acids
    Molecular mass:
    26414 Da
    Quaternary structure:
    • Homomultimer. Forms trimers, hexamers and 12- to 18-mers. The trimers (low molecular weight complexes / LMW) are assembled via non-covalent interactions of the collagen-like domains in a triple helix and hydrophobic interactions within the globular C1q domain. Several trimers can associate to form disulfide-linked hexamers (middle molecular weight complexes / MMW) and larger complexes (higher molecular weight / HMW). The HMW-complex assembly is also modulated by the degree of lysine hydroxylation and glycosylation. LMW, MMW and HMW complexes bind to HBEGF, MMW and HMW complexes bind to PDGFB, and HMW complex binds to FGF2. Interacts with CTRP9 via the C1q domain (heterotrimeric complex).
    Miscellaneous:
    • Variants Arg-84 and Ser-90 show impaired formation of HMW complexes whereas variants Cys-112 and Thr-164 show impaired secretion of adiponectin in any form.
    • HMW-complex blood contents are higher in females than in males, are increased in males by castration and decreased again upon subsequent testosterone treatment, which blocks HMW-complex secretion (By similarity). In type 2 diabetic patients, both the ratios of HMW to total adiponectin and the degree of adiponectin glycosylation are significantly decreased as compared with healthy controls.

    Three dimensional structures from OCA and Proteopedia for ADIPOQ Gene

neXtProt entry for ADIPOQ Gene

Protein Expression for ADIPOQ Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ADIPOQ Gene

  • HMW complexes are more extensively glycosylated than smaller oligomers. Hydroxylation and glycosylation of the lysine residues within the collagen-like domain of adiponectin seem to be critically involved in regulating the formation and/or secretion of HMW complexes and consequently contribute to the insulin-sensitizing activity of adiponectin in hepatocytes.
  • O-glycosylated. Not N-glycosylated. O-linked glycans on hydroxylysines consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl groups. Sialylated to varying degrees depending on tissue. Thr-22 appears to be the major site of sialylation. Higher sialylation found in SGBS adipocytes than in HEK fibroblasts. Sialylation is not required neither for heterodimerization nor for secretion. Not sialylated on the glycosylated hydroxylysines. Desialylated forms are rapidly cleared from the circulation.
  • Succination of Cys-36 by the Krebs cycle intermediate fumarate, which leads to S-(2-succinyl)cysteine residues, inhibits polymerization and secretion of adiponectin. Adiponectin is a major target for succination in both adipocytes and adipose tissue of diabetic mammals. It was proposed that succination of proteins is a biomarker of mitochondrial stress and accumulation of Krebs cycle intermediates in adipose tissue in diabetes and that succination of adiponectin may contribute to the decrease in plasma adiponectin in diabetes.
  • Glycosylation at Thr21, Thr22, Lys65, Lys68, Lys77, and Lys101
  • Modification sites at PhosphoSitePlus

Other Protein References for ADIPOQ Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for ADIPOQ

Protein products for research

No data available for DME Specific Peptides for ADIPOQ Gene

Domains & Families for ADIPOQ Gene

Gene Families for ADIPOQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins
  • Transporters

Protein Domains for ADIPOQ Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Complement C1q protein

Suggested Antigen Peptide Sequences for ADIPOQ Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78108, highly similar to Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), mRNA (A8K660_HUMAN)
  • Gelatin-binding protein (ADIPO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15848

UniProtKB/Swiss-Prot:

ADIPO_HUMAN :
  • The C1q domain is commonly called the globular domain.
Domain:
  • The C1q domain is commonly called the globular domain.
genes like me logo Genes that share domains with ADIPOQ: view

Function for ADIPOQ Gene

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  6. Cell Lines for research

Molecular function for ADIPOQ Gene

UniProtKB/Swiss-Prot 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 muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW.
UniProtKB/Swiss-Prot EnzymeRegulation:
Polymerization and secretion of adiponectin is inhibited by succination of cysteine residues by the Krebs cycle intermediate fumarate, which leads to S-(2-succinyl)cysteine residues.

Phenotypes From GWAS Catalog for ADIPOQ Gene

Gene Ontology (GO) - Molecular Function for ADIPOQ Gene

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
genes like me logo Genes that share ontologies with ADIPOQ: view
genes like me logo Genes that share phenotypes with ADIPOQ: view

Animal Models for ADIPOQ Gene

MGI Knock Outs for ADIPOQ:

Animal Models for research

  • Taconic Biosciences Mouse Models for ADIPOQ

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADIPOQ

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADIPOQ Gene

Localization for ADIPOQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADIPOQ Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADIPOQ gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 3
peroxisome 3
nucleus 3
cytosol 3
cytoskeleton 2
endosome 2
lysosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ADIPOQ Gene

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
genes like me logo Genes that share ontologies with ADIPOQ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADIPOQ Gene

Pathways & Interactions for ADIPOQ Gene

genes like me logo Genes that share pathways with ADIPOQ: view

SIGNOR curated interactions for ADIPOQ Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ADIPOQ Gene

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 IEA,ISS 12368907
genes like me logo Genes that share ontologies with ADIPOQ: view

Drugs & Compounds for ADIPOQ Gene

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  1. Drug products for research

(99) Drugs for ADIPOQ Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pioglitazone Approved, Investigational Pharma 488
cyclic amp Experimental Pharma 0

(42) Additional Compounds for ADIPOQ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADIPOQ: view

Transcripts for ADIPOQ Gene

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mRNA/cDNA for ADIPOQ Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADIPOQ

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ADIPOQ Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for ADIPOQ Gene

GeneLoc Exon Structure for
ADIPOQ

Expression for ADIPOQ Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADIPOQ Gene

mRNA expression in normal human tissues for ADIPOQ Gene
mRNA expression by GTEx for ADIPOQ GenemRNA expression by BioGPS for ADIPOQ Gene

mRNA differential expression in normal tissues according to GTEx for ADIPOQ Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x19.9), Adipose - Subcutaneous (x18.8), and Breast - Mammary Tissue (x8.2).

Protein differential expression in normal tissues from HIPED for ADIPOQ Gene

This gene is overexpressed in Uterus (14.6), Synovial fluid (11.7), Serum (7.3), Nasopharynx (6.7), and Heart (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADIPOQ Gene



Protein tissue co-expression partners for ADIPOQ Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADIPOQ

SOURCE GeneReport for Unigene cluster for ADIPOQ Gene:

Hs.80485

mRNA Expression by UniProt/SwissProt for ADIPOQ Gene:

Q15848-ADIPO_HUMAN
Tissue specificity: Synthesized exclusively by adipocytes and secreted into plasma.

Evidence on tissue expression from TISSUES for ADIPOQ Gene

  • Muscle(4)
  • Heart(3.9)
  • Kidney(3.7)
  • Intestine(3.6)
  • Blood(3.5)
  • Skin(3.3)
  • Nervous system(3.2)
  • Liver(3.1)
  • Pancreas(3)
  • Adrenal gland(2.6)
  • Bone(2.4)
  • Thyroid gland(2.4)
  • Urine(2.3)
  • Bone marrow(2.2)
  • Stomach(2.1)
  • Gall bladder(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with ADIPOQ: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADIPOQ Gene

Orthologs for ADIPOQ Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADIPOQ Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ADIPOQ 29 30
  • 99.59 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ADIPOQ 29
  • 87.3 (n)
APM1 30
  • 85 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ADIPOQ 29 30
  • 87.17 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Adipoq 29
  • 81.1 (n)
Mouse
(Mus musculus)
 Mammalia Adipoq 29 16 30
  • 80.56 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ADIPOQ 30
  • 71 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ADIPOQ 30
  • 64 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ADIPOQ 29 30
  • 70.11 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ADIPOQ 30
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia adipoq 29
  • 64.9 (n)
Zebrafish
(Danio rerio)
 Actinopterygii adipoqb 29 30
  • 65.62 (n)
 OneToMany
adipoqa 30
  • 34 (a)
 OneToMany
Species where no ortholog for ADIPOQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ADIPOQ Gene

ENSEMBL:
Gene Tree for ADIPOQ (if available)
TreeFam:
Gene Tree for ADIPOQ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADIPOQ: view image
Alliance of Genome Resources:
Additional Orthologs for ADIPOQ

Paralogs for ADIPOQ Gene

Paralogs for ADIPOQ Gene

(16) SIMAP similar genes for ADIPOQ Gene using alignment to 2 proteins:

  • ADIPO_HUMAN
  • A8K660_HUMAN
genes like me logo Genes that share paralogs with ADIPOQ: view

Variants for ADIPOQ Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for ADIPOQ Gene

ADIPO_HUMAN-Q15848
Genetic variations in ADIPOQ influence the variance in adiponectin serum levels and define the adiponectin serum levels quantitative trait locus 1 (ADIPQTL1) [MIM:612556].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADIPOQ Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
998253 Pathogenic: Serum level of adiponectin 1 186,854,243(+) C/T
NM_004797.4(ADIPOQ):c.274C>T (p.Arg92Ter) 		NONSENSE,NON_CODING_TRANSCRIPT
rs121917815 Pathogenic: Hypoadiponectinemia. Adiponectin deficiency (ADPND) [MIM:612556] 186,854,303(+) C/Tp.Arg112Cys
NM_004797.4(ADIPOQ):c.334C>T (p.Arg112Cys) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs144448520 Benign: not provided 186,853,171(+) G/A
NM_004797.4(ADIPOQ):c.113G>A (p.Gly38Asp) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs147185738 Uncertain Significance: not provided 186,853,249(+) A/G
NM_004797.4(ADIPOQ):c.191A>G (p.Glu64Gly) 		MISSENSE
rs1553805881 Uncertain Significance: not provided 186,853,097(+) GC/G
NM_004797.4(ADIPOQ):c.42del (p.Gly15fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ADIPOQ Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ADIPOQ Gene

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

Variation tolerance for ADIPOQ Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADIPOQ Gene

Human Gene Mutation Database (HGMD)
ADIPOQ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADIPOQ
Leiden Open Variation Database (LOVD)
ADIPOQ

SNP Genotyping and Copy Number Assays for research

Disorders for ADIPOQ Gene

MalaCards: The human disease database

(102) MalaCards diseases for ADIPOQ Gene - From: OMI, CVR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
adiponectin, serum level of, quantitative trait locus 1
  • adipqtl1
fatty liver disease
  • alcoholic fatty liver
acquired generalized lipodystrophy
  • lawrence syndrome
glucose intolerance
  • glucose: intolerance
prediabetes syndrome
  • impaired glucose tolerance
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ADIPO_HUMAN
  • Adiponectin deficiency (ADPND) [MIM:612556]: A condition that results in very low concentrations of plasma adiponectin. {ECO:0000269 PubMed:10918532}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for ADIPOQ

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ADIPOQ: view

No data available for Genatlas for ADIPOQ Gene

Publications for ADIPOQ Gene

  1. Impaired multimerization of human adiponectin mutants associated with diabetes. Molecular structure and multimer formation of adiponectin. (PMID: 12878598) Waki H … Kadowaki T (The Journal of biological chemistry 2003) 3 4 22 72
  2. C-reactive protein -717C>T genetic polymorphism associates with esophagectomy-induced stress hyperglycemia. (PMID: 20145925) Motoyama S … Ogawa J (World journal of surgery 2010) 3 22 40
  3. Gene-nutrient interactions in the metabolic syndrome: single nucleotide polymorphisms in ADIPOQ and ADIPOR1 interact with plasma saturated fatty acids to modulate insulin resistance. (PMID: 20032495) Ferguson JF … Roche HM (The American journal of clinical nutrition 2010) 3 22 40
  4. Sialic acid modification of adiponectin is not required for multimerization or secretion but determines half-life in circulation. (PMID: 19855092) Richards AA … Whitehead JP (Molecular endocrinology (Baltimore, Md.) 2010) 3 4 22
  5. Circulating high molecular weight adiponectin isoform is heritable and shares a common genetic background with insulin resistance in nondiabetic White Caucasians from Italy: evidence from a family-based study. (PMID: 19761474) Menzaghi C … Trischitta V (Journal of internal medicine 2010) 3 22 40

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