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ATP6V1E2 |
Gene Facts External Data Attribution
- HGNC Symbol
- ATP6V1E2 (HGNC:18125) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATPase H+ transporting V1 subunit E2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ATP6EL2, ATP6V1EL2
- Alias symbols
- MGC9341, VMA4, ATP6E1
- %HI
- 69.95(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.94(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:46738986-46769716 NCBI Ensembl UCSC GRCh38/hg38: chr2:46511847-46542577 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001318063.2 ENST00000522587.6 (Read more about MANE Select)
- Function
- Subunit of the V1 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. 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. {ECO:0000250|UniProtKB:P36543}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27940
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
