GPR26

G protein-coupled receptor 26, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 10:123666354-123697399

Links

ENSG00000154478 ∙ NCBI:2849 ∙ OMIM:604847 ∙ HGNC:4481 ∙ Uniprot:Q8NDV2 ∙ 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 GPR26 gene.

• Inborn genetic diseases (7 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR26 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	3	4
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	3

Variants in GPR26

This is a list of pathogenic ClinVar variants found in the GPR26 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-123666476-C-G		not specified	Uncertain significance (Mar 07, 2023)
10-123666478-C-T		Malignant tumor of prostate	Uncertain significance (-)
10-123666519-C-G		not specified	Uncertain significance (Dec 21, 2023)
10-123666606-G-T		not specified	Uncertain significance (Oct 29, 2021)
10-123666634-A-C		not specified	Uncertain significance (Aug 16, 2021)
10-123666641-G-A			Likely benign (Mar 01, 2023)
10-123666702-G-A		not specified	Uncertain significance (Sep 17, 2021)
10-123666737-C-T			Benign (Dec 31, 2019)
10-123666762-C-G		not specified	Uncertain significance (Feb 12, 2024)
10-123666927-G-A		not specified	Uncertain significance (Aug 12, 2021)
10-123666939-G-A		not specified	Uncertain significance (Sep 06, 2022)
10-123667031-G-C			Benign (Jun 25, 2018)
10-123674850-G-A		not specified	Uncertain significance (Oct 25, 2023)
10-123687995-G-A			Benign (Jun 25, 2018)
10-123688046-G-C		not specified	Uncertain significance (Dec 17, 2023)
10-123688075-A-T		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR26	protein_coding	protein_coding	ENST00000284674	3	28253

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.521	0.476	125743	0	5	125748	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.61	108	216	0.501	0.0000141	2107
Missense in Polyphen		26	74.034	0.35119		733
Synonymous	1.13	93	108	0.862	0.00000748	743
Loss of Function	2.45	2	10.6	0.188	7.20e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000374	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. {ECO:0000269|PubMed:17363172}.

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.168
• hipred: Y
• hipred_score: 0.641
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.834

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr26
• Phenotype: homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: adenylate cyclase-activating G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity