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ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [ Homo sapiens (human) ]

Gene ID: 488, updated on 3-May-2020

Summary

Official Symbol
ATP2A2provided by HGNC
Official Full Name
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2provided by HGNC
Primary source
HGNC:HGNC:812
See related
Ensembl:ENSG00000174437 MIM:108740
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DD; DAR; ATP2B; SERCA2
Summary
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]
Expression
Broad expression in heart (RPKM 220.5), esophagus (RPKM 62.0) and 24 other tissues See more
Orthologs

Genomic context

See ATP2A2 in Genome Data Viewer
Location:
12q24.11
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (110281247..110351093)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110719032..110788898)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr12.3595 Neighboring gene intraflagellar transport 81 Neighboring gene RNA, 7SL, cytoplasmic 769, pseudogene Neighboring gene anaphase promoting complex subunit 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acrokeratosis verruciformis of Hopf
MedGen: C0265971 OMIM: 101900 GeneReviews: Not available
Compare labs
Keratosis follicularis
MedGen: C0022595 OMIM: 124200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 Env is identified to have a physical interaction with ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Rev rev HIV-1 Rev interacting protein, Ca++ dependent-ATPase 2 (ATP2A2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa. The interaction of Rev with ATP2A2 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20293, FLJ38063, MGC45367, DKFZp686P0211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
S100 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium-transporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-transporting ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential IC
Inferred by Curator
more info
PubMed 
calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential TAS
Traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
lutropin-choriogonadotropic hormone receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton-exporting ATPase activity, phosphorylative mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ER-nucleus signaling pathway IEA
Inferred from Electronic Annotation
more info
 
T-tubule organization IEA
Inferred from Electronic Annotation
more info
 
calcium ion import into sarcoplasmic reticulum IC
Inferred by Curator
more info
PubMed 
calcium ion import into sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport from cytosol to endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
cardiac muscle hypertrophy in response to stress IEA
Inferred from Electronic Annotation
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to heat IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
negative regulation of heart contraction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
organelle organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endoplasmic reticulum calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of heart rate TAS
Traceable Author Statement
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion-dependent exocytosis of neurotransmitter IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cardiac muscle cell action potential involved in regulation of contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac muscle cell membrane potential IC
Inferred by Curator
more info
PubMed 
regulation of cardiac muscle cell membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac muscle cell membrane potential TAS
Traceable Author Statement
more info
PubMed 
regulation of cardiac muscle contraction by calcium ion signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of the force of heart contraction IEA
Inferred from Electronic Annotation
more info
 
relaxation of cardiac muscle IEA
Inferred from Electronic Annotation
more info
 
response to endoplasmic reticulum stress ISS
Inferred from Sequence or Structural Similarity
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
sarcoplasmic reticulum calcium ion transport TAS
Traceable Author Statement
more info
PubMed 
skeletal muscle contraction IEA
Inferred from Electronic Annotation
more info
 
transition between fast and slow fiber IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical ectoplasmic specialization IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extrinsic component of cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane bounded cell projection IEA
Inferred from Electronic Annotation
more info
 
platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 
ribbon synapse IEA
Inferred from Electronic Annotation
more info
 
sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sarcoplasmic/endoplasmic reticulum calcium ATPase 2
Names
ATPase Ca++ transporting cardiac muscle slow twitch 2
ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2
SR Ca(2+)-ATPase 2
calcium pump 2
calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform
cardiac Ca2+ ATPase
endoplasmic reticulum class 1/2 Ca(2+) ATPase
NP_001672.1
NP_733765.1
XP_005253945.1
XP_011536704.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007097.2 RefSeqGene

    Range
    4621..74467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001681.4NP_001672.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform a

    See identical proteins and their annotated locations for NP_001672.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) differs in the 3' coding region and 3' UTR, resulting in an alternate termination codon, compared to variant 1. The encoded isoform (a, also known as SERCA2a, S2a or HK2) has a shorter and distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AK000300, BG773489, BI553880, M23115
    Consensus CDS
    CCDS9143.1
    UniProtKB/Swiss-Prot
    P16615
    Related
    ENSP00000311186.6, ENST00000308664.10
    Conserved Domains (6) summary
    TIGR01116
    Location:53988
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93340
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:783986
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:472
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12710
    Location:605711
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:419527
    Cation_ATPase; Cation transport ATPase (P-type)
  2. NM_170665.4NP_733765.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform b

    See identical proteins and their annotated locations for NP_733765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) represents the longer transcript and encodes the longer isoform (b, also known as SERCA2b, S2b or HK1).
    Source sequence(s)
    AK000300, BC035588, BG773489, BI553880, BX648282
    Consensus CDS
    CCDS9144.1
    UniProtKB/Swiss-Prot
    P16615
    UniProtKB/TrEMBL
    A0A0S2Z3L2
    Related
    ENSP00000440045.2, ENST00000539276.7
    Conserved Domains (6) summary
    TIGR01116
    Location:53988
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93340
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:783986
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:472
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12710
    Location:605711
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:419527
    Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    110281247..110351093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253888.3XP_005253945.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform X1

    See identical proteins and their annotated locations for XP_005253945.1

    UniProtKB/Swiss-Prot
    P16615
    Related
    ENSP00000449454.2, ENST00000548169.2
    Conserved Domains (6) summary
    TIGR01116
    Location:53988
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93340
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:783986
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:472
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12710
    Location:605711
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:419527
    Cation_ATPase; Cation transport ATPase (P-type)
  2. XM_011538402.3XP_011536704.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform X1

    See identical proteins and their annotated locations for XP_011536704.1

    UniProtKB/Swiss-Prot
    P16615
    Conserved Domains (6) summary
    TIGR01116
    Location:53988
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93340
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:783986
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:472
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12710
    Location:605711
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:419527
    Cation_ATPase; Cation transport ATPase (P-type)

RNA

  1. XR_002957329.1 RNA Sequence

    Related
    ENST00000377685.9
  2. XR_243009.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001135765.1: Suppressed sequence

    Description
    NM_001135765.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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