ATP6V0A4 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ATP6V0A4 (HGNC:866) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATPase H+ transporting V0 subunit a4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ATP6N1B, ATP6N2, RTA1C
- Alias symbols
- RDRTA2, VPP2, RTADR, a4, Vph1, Stv1
- %HI
- 54.41(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.92(Read more about gnomAD LOEUF score)
- Cytoband
- 7q34
- Genomic Coordinates
-
GRCh37/hg19: chr7:138391039-138482941 NCBI Ensembl UCSC GRCh38/hg38: chr7:138706294-138798196 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020632.3 ENST00000310018.7 (Read more about MANE Select)
- Function
- Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Involved in normal vectorial acid transpo... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2317
ClinGen Curation ID:
CCID:006715
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)