PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
ATP2A1
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

Overview

Alternate Names: ATPase, Ca++ transporting, fast twitch 1; OTTHUMP00000162562; SR Ca(2+)-ATPase 1; calcium pump 1; calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform; endoplasmic reticulum class 1/2 Ca(2+) ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 1
Alternate Symbols: ATP2A; SERCA1
PharmGKB Accession Id: PA25105

Details

Cytogenetic Location: chr16 : p11.2
GP mRNA Boundary†: chr16 : 28797310 - 28823331
GP Gene Boundary†: chr16 : 28787310 - 28826331
Strand: plus
Product Name: ATPase, Ca++ transporting, fast twitch 1, ATPase, Ca++ transporting, fast twitch 1 isoform a, ATPase, Ca++ transporting, fast twitch 1 isoform b, SR Ca(2+)-ATPase 1, calcium pump 1, calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform, endoplasmic reticulum class 1/2 Ca(2+) ATPase, sarcoplasmic/endoplasmic reticulum calcium 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.

Non-Curated Annotations (Non-Curated Annotation)

  1. rs7498665 at chr16:28790742 in ATP2A1, SH2B1
    GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 16p11.2; Reported Gene(s): SH2B1, ATP2A1; Risk Allele: rs7498665-G); (p-value= 0.0000000003).This variant is associated with Body mass index.
    Evidence:
    PMID:19079260
    http://www.genome.gov/gwastudies/
  2. rs7498665 at chr16:28790742 in ATP2A1, SH2B1
    GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 16p11.2; Reported Gene(s): SH2B1, ATP2A1; Risk Allele: rs7498665-G); (p-value= 0.000000001).This variant is associated with Weight.
    Evidence:
    PMID:19079260
    http://www.genome.gov/gwastudies/
  3. rs7498665 at chr16:28790742 in ATP2A1, SH2B1
    GWAS results: Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. (Initial Sample Size: 32,387 individuals; Replication Sample Size: 59,092 individuals); (Region: 16p11.2; Reported Gene(s): SH2B1; Risk Allele: rs7498665-G); (p-value= 0.00000000005).This variant is associated with Body mass index.
    Evidence:
    PMID:19079261
    http://www.genome.gov/gwastudies/
Variant names are different names that have been used in the literature and other resources to refer to the same variant. Non-curated variant information is accumulated solely by computational methods and has not been verified by the scientific staff at PharmGKB.

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
antiarrhythmics, class i and iii
  •   
  • PD
  •   
  • FA
  • GN
Publications, Pathways
  Drug Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Not annotated
amiodarone
  •   
  • PD
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  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
arsenic trioxide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
cisapride
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
disopyramide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
dofetilide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
droperidol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
flecainide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
halofantrine
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
haloperidol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ibutilide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
lidocaine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
mesoridazine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
methadone
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
mexiletine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
pentamidine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
pimozide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
procainamide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
propafenone
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
quinidine
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
sotalol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
sparfloxacin
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
thioridazine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
tocainide
  •   
  • PD
  •   
  •   
  •   
Pathways

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

Additional Datasets

These datasets are minimally curated and are sorted alphabetically by title.

  1. A chemogenomic approach to drug discovery: focus on cardiovascular diseases

LinkOuts

Entrez Gene ID:
487
OMIM Accession:
108730
601003
UCSC Genome Browser ID:
NM_004320
Ref Seq NM Accession:
NM_004320
NM_173201
Ref Seq NP Accession:
AAB53112
AAB53113
AAH37354
AAI48654
BAF84003
BAG52597
BAG54679
CAD97631
CAD97841
EAW52006
NP_004311
NP_775293
O14983
Q7Z675
Q7Z6E5
Q8N3X5
Ref Seq NT Accession:
AC_000059
AC_000148
NC_000016
NT_010393
NW_001838231
NW_926273
UniProtKB Accesssion:
AT2A1_HUMAN (O14983)
Ensembl ID:
ENSG00000196296
GenAtlas ID:
ATP2A1
GeneCard ID:
ATP2A1
SOURCE ID:
ATP2A1
MutDB ID:
ATP2A1
PromoLign ID:
ortho_6134
HuGE ID:
ATP2A1
Comparative Toxicogenomics Acc ID:
487
ModBase:
O14983

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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