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)

Dosage ID:
ISCA-6109
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/31/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
From DGV, Bentley et al. (PMID 18987734) and McKernan et al. (PMID 19546169) report on the same male individual with a small intronic deletion within ATP6AP2 identified by whole genome sequencing. Also of note: Ramser et al. (2005) identified a silent mutation in an exonic splicing enhancer site, resulting in exon skipping, in seven males in one family. These individuals had intellectual and developmental disability as well as general tonic-clonic seizures (PMID: 15746149). However, it appears that the exon skipped is in-frame, and the resulting protein is still largely functional. While there are many caveats to the usefulness of this finding and its translatability to human phenotypes, we felt it was useful to point out that Amsterdam et al (2004), PMID 15256591, reported large rearrangements of ATP6AP2 as embryologically lethal in zebrafish.
NOTE:

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

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

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.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)