GPR89B
GeneG protein-coupled receptor 89B, the group of 7TM uncharacterized proteins
Gene summary
No gene description available in the current model. Review primary literature for detailed gene function and characteristics.
- GPR89
- GPR89C
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC 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 GPR89B variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . 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 | 0 | |||||
| missense | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 11 | 0 | 0 | 11 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein transport
- inorganic anion transport
- ion transmembrane transport
- regulation of ion transmembrane transport
- intracellular pH reduction
Molecular Function
- voltage-gated anion channel activity
Cellular Component
- integral component of membrane
- Golgi cisterna membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000314163
- Coding exons
- 14
- Length
- 65248
- Individuals with no LoFs
- 125417
- Homozygous LoFs
- 5
- Heterozygous LoFs
- 324
- Defined
- 125746
- p
- 0.00131
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.808 | 53 | 72.3 | 0.733 | 0.00000390 | 3022 |
| Missense (PolyPhen) | 3 | 10.325 | 0.29057 | 743 | ||
| Synonymous | 0.432 | 22 | 24.7 | 0.889 | 0.00000123 | 854 |
| Loss of Function | 1.02 | 7 | 10.6 | 0.661 | 7.22e-7 | 308 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0087 | 0.0073 | notable |
| Latino/Admixed American | 0.0010 | 0.00069 | notable |
| Ashkenazi Jewish | 0.0027 | 0.0020 | notable |
| East Asian | 0.00047 | 0.00044 | rare |
| Finnish | 0.00014 | 0.00014 | rare |
| European (Non-Finnish) | 0.00069 | 0.00066 | rare |
| South Asian | 0.0031 | 0.0024 | notable |
| Other | 0.0014 | 0.0011 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance. {ECO:0000250, ECO:0000269|PubMed:18794847}.;
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.307
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |