GPBAR1
protein-codingG protein-coupled bile acid receptor 1, the group of G protein-coupled bile acid receptor
Gene summary
This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GPBAR1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_170699.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 10 | 24 | 1 | 35 | ||
| missense | 97 | 5 | 2 | 104 | ||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 3 | 3 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 112 | 29 | 3 | 144 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_733800.1 | 1 | MANE Select | |
| Ensembl | ENSP00000430202.1 | 1 | MANE Select | |
| RefSeq | NP_001070659.1 | 1 | Standard | |
| RefSeq | NP_001070662.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Olfactory receptor activity
- Signaling by GPCR
- Signal Transduction
- G alpha (s) signalling events
- Class A/1 (Rhodopsin-like receptors)
Biological Process
- G protein-coupled receptor signaling pathway
- cell surface bile acid receptor signaling pathway
- regulation of bicellular tight junction assembly
Molecular Function
- bile acid receptor activity
- G protein-coupled bile acid receptor activity
Cellular Component
- cytoplasm
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000522678
- Coding exons
- 1
- Length
- 4364
- Individuals with no LoFs
- 124527
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 133
- Defined
- 124660
- p
- 0.000534
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0957 | 199 | 203 | 0.981 | 0.0000135 | 2023 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0035 | 0.0035 | notable |
| Finnish | 0.000098 | 0.000093 | rare |
| European (Non-Finnish) | 0.00038 | 0.00036 | rare |
| South Asian | 0.00063 | 0.00062 | rare |
| Other | 0.00069 | 0.00066 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Intolerance Scores
- LoFtool
- 0.990
- RVIS EVS
- 0.06
- RVIS percentile EVS
- 58.74
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |