ATP6AP2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ATP6AP2 (HGNC:18305) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATPase H+ transporting accessory protein 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ATP6IP2
- Alias symbols
- M8-9, APT6M8-9, ATP6M8-9, PRR, RENR
- %HI
- 35.15(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.87(Read more about gnomAD pLI score)
- LOEUF
- 0.43(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.4
- Genomic Coordinates
-
GRCh37/hg19: chrX:40440222-40466100 NCBI Ensembl UCSC GRCh38/hg38: chrX:40580970-40606848 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005765.3 ENST00000636580.2 (Read more about MANE Select)
- Function
- Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, PubMed:29127204, PubMed:30374053, PubMed:32276428). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, may also pla... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.