ATP11A ATPase phospholipid transporting 11A
Gene ID: 23250, updated on 2-Nov-2024Gene type: protein coding
Also known as: ATPIH; ATPIS; AUNA2; HLD24; DFNA84
- See all available tests in GTR for this gene
- Go to complete Gene record for ATP11A
- Go to Variation Viewer for ATP11A variants
Summary
The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Auditory neuropathy, autosomal dominant 2 | not available |
| Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. GeneReviews: Not available | |
| Hearing loss, autosomal dominant 84 | See labs |
| Leukodystrophy, hypomyelinating, 24 | not available |
Genomic context
- Location:
- 13q34
- Sequence:
- Chromosome: 13; NC_000013.11 (112690038..112887168)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP11A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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