Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP2A1 Gene

Aliases for ATP2A1 Gene

  • ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1 2 3 5
  • Calcium Pump 1 2 3 4
  • Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Fast Twitch Skeletal Muscle Isoform 3 4
  • ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1 2 3
  • Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 1 2 3
  • Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
  • SR Ca(2+)-ATPase 1 3 4
  • EC 3.6.3.8 4 61
  • SERCA1 3 4
  • EC 3.6.3 61
  • ATP2A 3

External Ids for ATP2A1 Gene

Previous HGNC Symbols for ATP2A1 Gene

  • ATP2A

Previous GeneCards Identifiers for ATP2A1 Gene

  • GC16U990002
  • GC16P029213
  • GC16P028888
  • GC16P028927
  • GC16P028798
  • GC16P026757

Summaries for ATP2A1 Gene

Entrez Gene Summary for ATP2A1 Gene

  • This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

GeneCards Summary for ATP2A1 Gene

ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2A1 include Brody Myopathy and Pseudomyotonia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Pre-NOTCH Expression and Processing. GO annotations related to this gene include calcium ion binding and nucleotide binding. An important paralog of this gene is ATP2A2.

UniProtKB/Swiss-Prot for ATP2A1 Gene

  • Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.

Tocris Summary for ATP2A1 Gene

  • Ca2+-ATPases function to maintain a low cytoplasmic concentration of Ca2+ ions. They are high affinity, low capacitance transporters and complement the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases.

Gene Wiki entry for ATP2A1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2A1 Gene

Genomics for ATP2A1 Gene

Regulatory Elements for ATP2A1 Gene

Enhancers for ATP2A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G028910 1.1 ENCODE dbSUPER 12.1 +32.3 32286 1.3 HDAC1 ZNF335 ZSCAN5C FOS ZNF391 JUNB TSHZ1 ZEB2 KAT8 NFIC TUFM CD19 RABEP2 ATP2A1 NFATC2IP GC16P028925 GC16M028787
GH16G028807 0.2 Ensembl 12.6 -70.5 -70505 1.0 ATP2A1 PIR40373 PIR58591
GH16G028874 1.3 Ensembl ENCODE 0.7 -0.5 -492 6.4 HDGF CREB3L1 AGO1 SIN3A FEZF1 ZNF2 ZNF143 FOS SP3 ZHX2 TUFM CD19 RABEP2 NFATC2IP CDC37P1 ATP2A1 ENSG00000261766
GH16G028873 0.7 ENCODE 0.7 -4.7 -4651 0.2 CTCF RAD21 GLIS2 PATZ1 ZNF143 SMC3 PRDM10 PCBP1 MAZ REST CD19 RABEP2 NFATC2IP ATP2A1 ENSG00000261766
GH16G028861 1.2 ENCODE 0.4 -13.8 -13785 5.6 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 PPARGC1A TUFM ENSG00000260853 SULT1A2 NFATC2IP ENSG00000260367 SMG1P2 CD19 RABEP2 CDC37P1 EIF3CL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP2A1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP2A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084941 1395 801 CREB3L1 AGO1 SIN3A E2F7 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF143

Genomic Location for ATP2A1 Gene

Chromosome:
16
Start:
28,878,405 bp from pter
End:
28,904,509 bp from pter
Size:
26,105 bases
Orientation:
Plus strand

Genomic View for ATP2A1 Gene

Genes around ATP2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2A1 Gene

Proteins for ATP2A1 Gene

  • Protein details for ATP2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14983-AT2A1_HUMAN
    Recommended name:
    Sarcoplasmic/endoplasmic reticulum calcium ATPase 1
    Protein Accession:
    O14983
    Secondary Accessions:
    • A8K5J9
    • B3KY17
    • O14984

    Protein attributes for ATP2A1 Gene

    Size:
    1001 amino acids
    Molecular mass:
    110252 Da
    Quaternary structure:
    • Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN). Interacts with DWORF (By similarity).

    Alternative splice isoforms for ATP2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2A1 Gene

Selected DME Specific Peptides for ATP2A1 Gene

O14983:
  • NSLSENQSL
  • TTCLALGT
  • DPVHGGSW
  • VPGDIVE
  • TEIGKIRD
  • DDNFSTI
  • ERANACNSVI
  • PDPRAVNQDKKN
  • VQLLWVN
  • AICRRIG
  • STTLRVDQSILTGES
  • DKTGTLTTN
  • MITGDNKGTA
  • RMPPWVNIWL
  • IMITGDN
  • VLKISLPVI
  • LEFSRDRK
  • AFVEPFVI
  • GDGVNDAP
  • TGDNKGTA
  • LVRILLLAA
  • TPLQQKLDEF
  • RVEPSHK
  • EGRAIYNN
  • KLDEFGEQLSKVISLIC
  • TMALSVLVTIEMCNALNS
  • DGLVELATICALCNDS
  • LSMSLHF
  • CFARVEP
  • VGDKVPAD
  • INIGHFNDP
  • GWLFFRY
  • TGSTYAP
  • HKSKIVE
  • SFVLAWFEEGEET
  • ISSNVGEV
  • VGMLDPPR
  • CRDAGIRV
  • YVGAATVG
  • AIPEGLP
  • VARNYLE
  • EKVGEATETAL
  • DQSILTGESVSVIKHT
  • LWVNLVTDGLPA
  • DKTGTLT
  • LVEKMNVF
  • EPFVILLIL
  • EQFEDLLVRILL
  • AIEALKEYEPEMGKV
  • KMFVKGAPE
  • DTLRCLALAT
  • NELPAEE
  • VGVWQERNAE
  • EMVLADDNFS
  • DRKSVQRIKA
  • IFLTAALG
  • MTGDGVND
  • SENQSLLRMPPW
  • SVETLGCT
  • IGIAMGSGTAVAK
  • FIRYLISSN
  • LPSVETLG

Post-translational modifications for ATP2A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATP2A1 (ATP2A1)

Domains & Families for ATP2A1 Gene

Gene Families for ATP2A1 Gene

Graphical View of Domain Structure for InterPro Entry

O14983

UniProtKB/Swiss-Prot:

AT2A1_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
genes like me logo Genes that share domains with ATP2A1: view

Function for ATP2A1 Gene

Molecular function for ATP2A1 Gene

GENATLAS Biochemistry:
sarcoplasmic reticulum,ATPase,Ca++ transporting,transciently expressed,mediating the extrusion of CA2+ from internal stores in the endoplasmic reticulum with two alternatively spliced isoforms,SERCA1A expressed in adult muscle and a minor form SERCA1B in neonatal fibers
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). Reversibly inhibited by phospholamban (PLN) at low calcium concentrations (By similarity). Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity).
UniProtKB/Swiss-Prot Function:
Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.
UniProtKB/Swiss-Prot Induction:
Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile activity leads to an increase in SERCA1 expression.

Enzyme Numbers (IUBMB) for ATP2A1 Gene

Gene Ontology (GO) - Molecular Function for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity TAS,IEA --
GO:0005509 calcium ion binding IMP 9405806
GO:0005515 protein binding IPI 9295312
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ATP2A1: view
genes like me logo Genes that share phenotypes with ATP2A1: view

Human Phenotype Ontology for ATP2A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP2A1 Gene

MGI Knock Outs for ATP2A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ATP2A1 Gene

Localization for ATP2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2A1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2A1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
mitochondrion 3
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 9405806
genes like me logo Genes that share ontologies with ATP2A1: view

Pathways & Interactions for ATP2A1 Gene

genes like me logo Genes that share pathways with ATP2A1: view

Gene Ontology (GO) - Biological Process for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IMP 9405806
GO:0008637 apoptotic mitochondrial changes IMP 19061639
GO:0031448 positive regulation of fast-twitch skeletal muscle fiber contraction IDA 12479237
genes like me logo Genes that share ontologies with ATP2A1: view

No data available for SIGNOR curated interactions for ATP2A1 Gene

Drugs & Compounds for ATP2A1 Gene

(29) Drugs for ATP2A1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(6AR,11AS,11BR)-10-ACETYL-9-HYDROXY-7,7-DIMETHYL-2,6,6A,7,11A,11B-HEXAHYDRO-11H-PYRROLO[1',2':2,3]ISOINDOLO[4,5,6-CD]INDOL-11-ONE Experimental Pharma Target 0
2,5-DI-(TERT-BUTYL)-1,4,BENZOHYDROQUINONE Experimental Pharma Target 0
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0
Tetrafluoroaluminate Ion Experimental Pharma Target 0
Thapsigargin Pharma Potent inhibitor of SERCA ATPase 0

(1) Additional Compounds for ATP2A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for ATP2A1 Gene

Compound Action Cas Number
Artemisinin Antimalarial; inhibits P-type ATPase (PfATP6) of P.falciparum 63968-64-9
BHQ Inhibitor of SERCA ATPase 88-58-4
Cyclopiazonic acid Inhibitor of SERCA ATPase 18172-33-3
Ochratoxin A Stimulates SERCA-ATP-dependent Ca2+ pump activity 303-47-9
Thapsigargin Potent inhibitor of SERCA ATPase 67526-95-8

(18) ApexBio Compounds for ATP2A1 Gene

Compound Action Cas Number
20-HETE Vasoconstrictor in renal and cerebral vasculature 79551-86-3
ARL 67156 trisodium salt ecto-ATPase inhibitor 1021868-83-6
Ciclopirox ethanolamine 41621-49-2
Cyclopiazonic acid 18172-33-3
Enterostatin 117830-79-2
Glucagon (19-29), human Potent Ca2+/Mg2+-ATPase inhibitor 64790-15-4
K 858 72926-24-0
Lithium carbonate 554-13-2
ML 240 1346527-98-7
MYK-461 inhibits adenosine triphosphatase activity
Ochratoxin A 303-47-9
Paprotrain 57046-73-8
Paxilline 57186-25-1
POM 1 12141-67-2
PSB 06126 1052089-16-3
PSB 069 78510-31-3
SCH 28080 76081-98-6
Thapsigargin 67526-95-8
genes like me logo Genes that share compounds with ATP2A1: view

Transcripts for ATP2A1 Gene

Unigene Clusters for ATP2A1 Gene

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^
SP1: - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: - -

ExUns: 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ATP2A1 Gene

GeneLoc Exon Structure for
ATP2A1
ECgene alternative splicing isoforms for
ATP2A1

Expression for ATP2A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP2A1 Gene

This gene is overexpressed in Muscle - Skeletal (x50.9).

Protein differential expression in normal tissues from HIPED for ATP2A1 Gene

This gene is overexpressed in Tonsil (32.0), Nasal epithelium (17.8), and Heart (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP2A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP2A1 Gene:

ATP2A1

SOURCE GeneReport for Unigene cluster for ATP2A1 Gene:

Hs.657344

mRNA Expression by UniProt/SwissProt for ATP2A1 Gene:

O14983-AT2A1_HUMAN
Tissue specificity: Skeletal muscle, fast twitch muscle (type II) fibers.

Evidence on tissue expression from TISSUES for ATP2A1 Gene

  • Muscle(4.9)
  • Heart(2.2)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2A1 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
genes like me logo Genes that share expression patterns with ATP2A1: view

Primer Products

No data available for Protein tissue co-expression partners for ATP2A1 Gene

Orthologs for ATP2A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2A1 34 35
  • 98.17 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP2A1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2A1 34 35
  • 91.53 (n)
cow
(Bos Taurus)
Mammalia ATP2A1 34 35
  • 91.47 (n)
rat
(Rattus norvegicus)
Mammalia Atp2a1 34
  • 90.23 (n)
mouse
(Mus musculus)
Mammalia Atp2a1 34 16 35
  • 89.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A1 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2A1 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2a1 34
  • 79.99 (n)
Str.6567 34
African clawed frog
(Xenopus laevis)
Amphibia ca-p60a-prov 34
zebrafish
(Danio rerio)
Actinopterygii atp2a1l 35
  • 84 (a)
OneToMany
atp2a1 34 35
  • 77.68 (n)
zgc55380 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1095 34
fruit fly
(Drosophila melanogaster)
Insecta Ca-P60A 36 34 35
  • 70.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ATC1_ANOGA 34
  • 70.18 (n)
worm
(Caenorhabditis elegans)
Secernentea sca-1 34 35
  • 66.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 35
  • 31 (a)
OneToMany
ENA5 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ECA3 34
  • 55.67 (n)
rice
(Oryza sativa)
Liliopsida Os03g0730800 34
  • 56.09 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4294 34
corn
(Zea mays)
Liliopsida Zm.509 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10300 35
  • 60 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03305 34
  • 59.44 (n)
Species where no ortholog for ATP2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP2A1 Gene

ENSEMBL:
Gene Tree for ATP2A1 (if available)
TreeFam:
Gene Tree for ATP2A1 (if available)

Paralogs for ATP2A1 Gene

Paralogs for ATP2A1 Gene

genes like me logo Genes that share paralogs with ATP2A1: view

Variants for ATP2A1 Gene

Sequence variations from dbSNP and Humsavar for ATP2A1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121918115 Pathogenic, Brody myopathy (BRM) [MIM:601003] 28,902,228(+) GATCC(C/T)GGTGC reference, missense
rs121918113 Pathogenic 28,887,236(+) ACCCC(C/T)GAGCT reference, stop-gained
rs121918114 Pathogenic 28,900,841(+) TGCTG(A/C)TTCGC reference, stop-gained
rs398124554 Pathogenic 28,902,650(+) CATGT(-/C)AACTA reference, frameshift-variant
rs398124555 Pathogenic 28,903,059(+) CGGAT(-/T)GCCAC reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2A1 Gene

Variant ID Type Subtype PubMed ID
dgv2830n100 CNV gain 25217958
dgv2831n100 CNV gain 25217958
dgv4987n54 CNV gain 21841781
esv2674005 CNV deletion 23128226
esv2758640 CNV gain+loss 17122850
esv3570454 CNV gain 25503493
esv3638349 CNV gain 21293372
esv3638350 CNV loss 21293372
esv3892826 CNV gain+loss 25118596
nsv1059555 CNV gain 25217958
nsv518648 CNV loss 19592680
nsv519100 CNV gain 19592680
nsv571805 CNV loss 21841781

Variation tolerance for ATP2A1 Gene

Residual Variation Intolerance Score: 3.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP2A1 Gene

Human Gene Mutation Database (HGMD)
ATP2A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2A1 Gene

Disorders for ATP2A1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ATP2A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brody myopathy
  • brody disease
pseudomyotonia
  • isaacs syndrome
myopathy, tubular aggregate, 1
  • tubular aggregate myopathy
myotonic disease
  • myotonic disorders
myotonic dystrophy
  • myotonic dystrophy 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT2A1_HUMAN
  • Brody myopathy (BRM) [MIM:601003]: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation. {ECO:0000269 PubMed:10914677}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ATP2A1 Gene

myopathy,with impaired skeletal muscle relaxation,Brody disease

Relevant External Links for ATP2A1

Genetic Association Database (GAD)
ATP2A1
Human Genome Epidemiology (HuGE) Navigator
ATP2A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2A1
genes like me logo Genes that share disorders with ATP2A1: view

Publications for ATP2A1 Gene

  1. The mutation of Pro(789) to Leu reduces the activity of the fast- twitch skeletal muscle sarco(endo)plasmic reticulum Ca(2+) ATPase (SERCA1) and is associated with Brody disease. (PMID: 10914677) Odermatt A. … MacLennan D.H. (Hum. Genet. 2000) 3 4 22 64
  2. Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)- ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. (PMID: 8825625) Zhang Y. … Maclennan D.H. (Genomics 1995) 3 4 22 64
  3. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PMID: 19079260) Thorleifsson G. … Stefansson K. (Nat. Genet. 2009) 3 46 64
  4. Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. (PMID: 17728322) Hino S. … Imaizumi K. (Hum. Mol. Genet. 2007) 3 22 64
  5. Effect of chronic obstructive pulmonary disease on calcium pump ATPase expression in human diaphragm. (PMID: 15718407) Nguyen T. … Levine S. (J. Appl. Physiol. 2005) 3 22 64

Products for ATP2A1 Gene

Sources for ATP2A1 Gene

Content
Loading form....