GPHRB

Chr 1

golgi pH regulator B

Also known as: GPHR, GPR89, GPR89B, GPR89C, LINC02804, SH120, UNQ192

NCBI Gene: 51463

Enables voltage-gated monoatomic anion channel activity. Involved in intracellular pH reduction. Located in Golgi cisterna membrane and Golgi-associated vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

12
ClinVar variants
12
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— GPHRB
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic of 12 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GPHRB?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

12 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
12
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————12
Likely Pathogenic
————0
VUS
————0
Likely Benign
————0
Benign
————0
Total—12

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GPHRB · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for GPHRB

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools