GPR176

G protein-coupled receptor 176, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 15:39799008-39920936

Links

ENSG00000166073

∙ NCBI:11245 ∙ OMIM:612183 ∙ HGNC:32370 ∙ Uniprot:Q14439 ∙ 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 GPR176 gene.

not_specified (65 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR176 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007223.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			65 clinvar			65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR176	protein_coding	protein_coding	ENST00000561100	3	121861

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00808	0.979	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.30	228	290	0.786	0.0000163	3337
Missense in Polyphen		111	120.16	0.92374		1340
Synonymous	0.666	110	119	0.922	0.00000665	1091
Loss of Function	2.18	6	15.2	0.395	8.21e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000297	0.000297
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Orphan receptor involved in normal circadian rhythm behavior. Acts through the G-protein subclass G(z)-alpha and has an agonist-independent basal activity to repress cAMP production. {ECO:0000250|UniProtKB:Q80WT4}.;
Pathway: GPCRs, Other;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.198

Intolerance Scores

loftool: 0.371
rvis_EVS: -0.71
rvis_percentile_EVS: 14.5

Haploinsufficiency Scores

pHI: 0.0770
hipred: Y
hipred_score: 0.703
ghis: 0.559

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.133

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Gpr176
Phenotype

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;chemical synaptic transmission;circadian behavior
Cellular component: plasma membrane;integral component of plasma membrane
Molecular function: G protein-coupled receptor activity