ADIPOR2

adiponectin receptor 2, the group of Adiponectin receptors|Progestin and adipoQ receptor family

Basic information

Region (hg38): 12:1688574-1788674

Links

ENSG00000006831

∙ NCBI:79602 ∙ OMIM:607946 ∙ HGNC:24041 ∙ Uniprot:Q86V24 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADIPOR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADIPOR2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1 clinvar	1
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2 clinvar		2
Total	0	0	1	2	1

Variants in ADIPOR2

This is a list of pathogenic ClinVar variants found in the ADIPOR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
12-1754342-C-T	ADIPOR2-related disorder	Likely benign (Dec 05, 2023)	3046608
12-1754366-G-A	not specified	Uncertain significance (May 23, 2023)	2550052
12-1780869-A-AT	ADIPOR2-related disorder	Likely benign (Mar 21, 2023)	3056279
12-1786029-G-A	not specified	Uncertain significance (May 29, 2024)	3273181
12-1786042-C-T		Benign (May 18, 2018)	785390

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADIPOR2	protein_coding	protein_coding	ENST00000357103	7	100105

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.362	0.637	125732	0	13	125745	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.65	105	214	0.490	0.0000111	2543
Missense in Polyphen		22	71.243	0.3088		902
Synonymous	1.08	63	74.9	0.842	0.00000363	741
Loss of Function	3.01	4	17.7	0.226	9.28e-7	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000178	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000359	0.0000352
Middle Eastern	0.000110	0.000109
South Asian	0.0000422	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity). {ECO:0000250|UniProtKB:Q8BQS5, ECO:0000269|PubMed:12802337, ECO:0000269|PubMed:25855295}.;
Pathway: Adipocytokine signaling pathway - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);AMP-activated Protein Kinase (AMPK) Signaling;miR-targeted genes in epithelium - TarBase;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Leptin and adiponectin;AMPK inhibits chREBP transcriptional activation activity;Metabolism;Integration of energy metabolism (Consensus)

Recessive Scores

pRec: 0.266

Intolerance Scores

loftool: 0.238
rvis_EVS: 0.28
rvis_percentile_EVS: 71.08

Haploinsufficiency Scores

pHI: 0.232
hipred: Y
hipred_score: 0.617
ghis: 0.406

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.925

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Adipor2
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; reproductive system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype;

Gene ontology

Biological process: heart development;female pregnancy;response to nutrient;hormone-mediated signaling pathway;fatty acid oxidation;negative regulation of cell growth;adiponectin-activated signaling pathway;regulation of fatty acid biosynthetic process;glucose homeostasis;positive regulation of glucose import;vascular wound healing;positive regulation of cold-induced thermogenesis
Cellular component: plasma membrane;integral component of membrane;intrinsic component of plasma membrane
Molecular function: signaling receptor activity;identical protein binding;metal ion binding;protein heterodimerization activity;adiponectin binding;adipokinetic hormone receptor activity