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 (
)
-
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. -
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. -
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.
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.
Primary phenotype data has been submitted and is available
Primary genotype data has been submitted and is available
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
antiarrhythmics, class i and iii |
|
Publications |
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.
LinkOuts
- 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
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.