Overview
| Alternate Names: | ATPase II; ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1; OTTHUMP00000125252; aminophospholipid translocase |
|---|---|
| Alternate Symbols: | ATPASEII; ATPIA; ATPP2; MGC130042; MGC130043; MGC26327 |
| PharmGKB Accession Id: | PA25165 |
Details
| Cytogenetic Location: | chr4 : p13 |
|---|---|
| GP mRNA Boundary†: | chr4 : 42109392 - 42353647 |
| GP Gene Boundary†: | chr4 : 42106392 - 42363647 |
| Strand: | minus |
| Product Name: | ATPase II, ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1, aminophospholipid translocase |
†
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped
onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries
by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for
potential regulatory regions.
Curated Annotations (
)
-
rs12639920
at chr4:42107444
in
ATP8A1
This variant is significantly associated with late-onset Alzheimer disease (LOAD) in a GWAS study with 492 LOAD cases and 498 cognitive controls using Illumina's HumanHap550 beadchip.- Related Diseases:
- Alzheimer Disease
- Evidence:
-
PMID:19118814
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
Curated Information
The following diseases are in curated knowledge about this gene.
Primary phenotype data has been submitted and is available
Primary genotype data has been submitted and is available
| Disease | Relationship | Evidence | |
|---|---|---|---|
|
Alzheimer Disease |
|
Publications, Variants |
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
LinkOuts
- Entrez Gene ID:
- 10396
- OMIM Accession:
- 609542
- UCSC Genome Browser ID:
- NM_006095
- Ref Seq NM Accession:
- NM_001105529
- NM_006095
- Ref Seq NP Accession:
- AAD34706
- AAH20943
- AAI09318
- AAI09319
- AAY40924
- AAY40980
- BAA77248
- BAD92924
- EAW93003
- EAW93004
- NP_001098999
- NP_006086
- Q32M35
- Q32M36
- Q4G1C1
- Q4W5J7
- Q4W5P2
- Q59EX4
- Q9Y2Q0
- Ref Seq NT Accession:
- AC_000047
- AC_000136
- NC_000004
- NT_006238
- NW_001838903
- NW_922073
- UniProtKB Accesssion:
- AT8A1_HUMAN (Q9Y2Q0)
- Ensembl ID:
- ENSG00000124406
- GenAtlas ID:
- ATP8A1
- GeneCard ID:
- ATP8A1
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.