GPBAR1

G protein-coupled bile acid receptor 1, the group of G protein-coupled bile acid receptor

Basic information

Region (hg38): 2:218259496-218263861

Links

ENSG00000179921

∙ NCBI:151306 ∙ OMIM:610147 ∙ HGNC:19680 ∙ Uniprot:Q8TDU6 ∙ 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 GPBAR1 gene.

GPBAR1-related_disorder (64 variants)
not_provided (55 variants)
not_specified (53 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPBAR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000170699.3. 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			13 clinvar	15 clinvar	1 clinvar	29
missense			84 clinvar	4 clinvar	2 clinvar	90
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)						0
Total	0	0	100	19	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPBAR1	protein_coding	protein_coding	ENST00000522678	1	4364

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.36e-9	0.0159	124527	0	133	124660	0.000534

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0957	199	203	0.981	0.0000135	2023
Missense in Polyphen		76	83.584	0.90926		885
Synonymous	0.539	90	96.7	0.930	0.00000600	790
Loss of Function	-1.61	11	6.55	1.68	2.85e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000117	0.000117
Ashkenazi Jewish	0.00	0.00
East Asian	0.00351	0.00351
Finnish	0.0000979	0.0000928
European (Non-Finnish)	0.000377	0.000363
Middle Eastern	0.00351	0.00351
South Asian	0.000632	0.000621
Other	0.000689	0.000660

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for bile acid. Bile acid-binding induces its internalization, activation of extracellular signal-regulated kinase and intracellular cAMP production. May be involved in the suppression of macrophage functions by bile acids. {ECO:0000269|PubMed:12419312, ECO:0000269|PubMed:12524422}.;
Pathway: Olfactory receptor activity;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Intolerance Scores

loftool: 0.990
rvis_EVS: 0.06
rvis_percentile_EVS: 58.74

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.170
ghis: 0.468

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Gpbar1
Phenotype: renal/urinary system phenotype; immune system phenotype; liver/biliary system phenotype; growth/size/body region phenotype; homeostasis/metabolism 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;

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;cell surface bile acid receptor signaling pathway;regulation of bicellular tight junction assembly
Cellular component: cytoplasm;plasma membrane;integral component of membrane
Molecular function: bile acid receptor activity;G protein-coupled bile acid receptor activity