Overview
| Alternate Names: | ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome); Cu++-transporting P-type ATPase; Menkes disease-associated protein; OTTHUMP00000023593; OTTHUMP00000062077; copper pump 1; copper-transporting ATPase 1 |
|---|---|
| Alternate Symbols: | FLJ17790; MK; MNK; OHS |
| PharmGKB Accession Id: | PA72 |
Details
| Cytogenetic Location: | chrX : q21.1 |
|---|---|
| GP mRNA Boundary†: | chrX : 77052855 - 77192095 |
| GP Gene Boundary†: | chrX : 77042855 - 77195095 |
| Strand: | plus |
| Product Name: | ATPase, Cu++ transporting, alpha polypeptide, Menkes disease-associated protein, OTTHUMP00000062077, copper pump 1, copper-transporting ATPase 1 |
†
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 (
)
-
rs2227291
at chrX:77155158
in
ATP7A
Risk or phenotype-associated allele: G Phenotype: The ATP7A:rs2227291 G variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.006 Type of association: CO; TOX- Variant Name:
- ATP7A:rs2227291 C>G; NM_000052.4:c.2299G>C; NP_000043.3:p.Val767Leu
- Related Drugs:
- docetaxel, thalidomide
- Related Diseases:
- Prostatic Neoplasms
- Evidence:
-
PMID:20038957
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.
PharmGKB Curated Pathways
Curated Information
The following drugs are in curated knowledge about this gene.
| Drug | Relationship | Evidence | |
|---|---|---|---|
|
carboplatin |
|
Publications |
|
|
cisplatin |
|
Publications |
|
docetaxel |
|
Publications, Variants |
|
|
oxaliplatin |
|
Publications |
|
|
platinum |
|
Publications |
|
|
thalidomide |
|
Publications, Variants |
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.
| Disease | Relationship | Evidence | |
|---|---|---|---|
|
|
Neoplasms |
|
Publications |
|
|
Ovarian Neoplasms |
|
Publications |
|
|
Prostatic Neoplasms |
|
Publications, Variants |
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
Downloads
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LinkOuts
- Ref Seq NT Accession:
- AC_000066
- AC_000155
- NC_000023
- NT_011651
- NW_001842376
- NW_927713
- UniProtKB Accesssion:
- ATP7A_HUMAN (Q04656)
- Ensembl ID:
- ENSG00000165240
- GenAtlas ID:
- ATP7A
- GeneCard ID:
- ATP7A
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.