PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
ATP7A
ATPase, Cu++ transporting, alpha polypeptide

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 (Curated Annotation)

  1. 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 Class Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
antineoplastic agents
  •   
  • PD
  • PK
  •   
  •   
Pathways
  Drug Relationship Evidence
Phenotype data available No genotype data Literature annotations available Not annotated
carboplatin
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
cisplatin
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
docetaxel
  • CO
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
oxaliplatin
  •   
  • PD
  • PK
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
paclitaxel
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
platinum
  •   
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
thalidomide
  • CO
  •   
  • PK
  •   
  • GN
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
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Breast Neoplasms
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Carcinoma, Non-Small-Cell Lung
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Colorectal Neoplasms
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Lung Neoplasms
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Melanoma
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Neoplasms
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Ovarian Neoplasms
  •   
  • PD
  • PK
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Prostatic Neoplasms
  • CO
  •   
  • PK
  •   
  • GN
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

Entrez Gene ID:
538
OMIM Accession:
300011
304150
309400
UCSC Genome Browser ID:
NM_000052
Ref Seq NM Accession:
NM_000052
Ref Seq NP Accession:
AAA16974
AAA35580
AAA96010
AAG47452
AAI56438
BAC82353
BAD92065
BAG61422
CAB08160
CAB08162
CAB94714
CAI42806
EAW98605
EAW98606
NP_000043
Q04656
Q59HD1
Q762B6
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
SOURCE ID:
ATP7A
MutDB ID:
ATP7A
PromoLign ID:
ortho_8222
HuGE ID:
ATP7A
Comparative Toxicogenomics Acc ID:
538
ModBase:
Q04656

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

The PharmGKB is financially supported by the NIH/ NIGMS and is managed at Stanford University (U01GM61374).
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