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

    Gene ID: 488, updated on 4-Jan-2025

    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; AllianceGenome:HGNC:812
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP2A2 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110280616..110351093)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110258258..110328744)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110718421..110788898)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369976 Neighboring gene Sharpr-MPRA regulatory region 13461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110546777-110547368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110547369-110547960 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4853 Neighboring gene intraflagellar transport 81 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110610112-110610892 Neighboring gene MPRA-validated peak1945 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110661551-110662051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110695091-110695683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110706905-110707507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4854 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110719747-110720501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6999 Neighboring gene Sharpr-MPRA regulatory region 3729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7000 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:110782389-110783588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110786998-110787545 Neighboring gene MPRA-validated peak1946 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110803582-110804450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110804451-110805318 Neighboring gene uncharacterized LOC124903014 Neighboring gene RNA, 7SL, cytoplasmic 769, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (855 hits/1371 screens)

    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

    EBI GWAS Catalog

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

    General gene information

    Clone Names

    • FLJ20293, FLJ38063, MGC45367, DKFZp686P0211

    Gene Ontology Provided by GOA

    Items 1 - 25 of 40
    Process Evidence Code Pubs
    involved_in ER-nucleus signaling pathway  
    involved_in T-tubule organization  
    involved_in autophagosome assembly  
    involved_in autophagosome assembly PubMed 
    involved_in autophagosome membrane docking PubMed 
    involved_in calcium ion import into sarcoplasmic reticulum PubMed 
    involved_in calcium ion import into sarcoplasmic reticulum  
    involved_in calcium ion transmembrane transport  
    involved_in calcium ion transmembrane transport PubMed 
    involved_in calcium ion transport from cytosol to endoplasmic reticulum PubMed 
    involved_in cardiac muscle hypertrophy in response to stress  
    involved_in cell adhesion PubMed 
    involved_in cellular response to oxidative stress  
    involved_in endoplasmic reticulum calcium ion homeostasis PubMed 
    involved_in epidermis development PubMed 
    involved_in intracellular calcium ion homeostasis  
    involved_in intracellular calcium ion homeostasis PubMed 
    involved_in intracellular calcium ion homeostasis PubMed 
    involved_in mitochondrion-endoplasmic reticulum membrane tethering PubMed 
    involved_in monoatomic ion transmembrane transport  
    involved_in negative regulation of heart contraction  
    involved_in negative regulation of receptor binding PubMed 
    involved_in neuron cellular homeostasis  
    involved_in organelle localization by membrane tethering PubMed 
    involved_in positive regulation of cardiac muscle cell apoptotic process  
    involved_in positive regulation of endoplasmic reticulum calcium ion concentration PubMed 
    involved_in positive regulation of heart rate PubMed 
    involved_in regulation of calcium ion-dependent exocytosis of neurotransmitter  
    involved_in regulation of cardiac conduction  
    involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction  
    involved_in regulation of cardiac muscle cell membrane potential PubMed 
    involved_in regulation of cardiac muscle cell membrane potential  
    involved_in regulation of cardiac muscle cell membrane potential PubMed 
    involved_in regulation of cardiac muscle contraction by calcium ion signaling  
    involved_in regulation of cardiac muscle contraction by calcium ion signaling PubMed 
    involved_in regulation of the force of heart contraction  
    involved_in relaxation of cardiac muscle PubMed 
    involved_in response to endoplasmic reticulum stress  
    involved_in sarcoplasmic reticulum calcium ion transport PubMed 
    involved_in transition between fast and slow fiber  
    Items 1 - 25 of 40

    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
    cardiac Ca2+ ATPase
    endoplasmic reticulum class 1/2 Ca(2+) ATPase
    NP_001399942.1
    NP_001399943.1
    NP_001399944.1
    NP_001672.1
    NP_733765.1
    XP_011536704.1
    XP_054228098.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001413013.1 → NP_001399942.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC006088
      UniProtKB/TrEMBL
      H7C5W9
    2. NM_001413014.1 → NP_001399943.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC006088
      UniProtKB/TrEMBL
      H7C5W9
    3. NM_001413015.1 → NP_001399944.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC006088
      UniProtKB/TrEMBL
      H7C5W9
      Related
      ENSP00000449454.2, ENST00000548169.2
    4. NM_001681.4 → NP_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/TrEMBL
      H7C5W9
      Related
      ENSP00000311186.6, ENST00000308664.10
      Conserved Domains (1) summary
      cd02083
      Location:5 → 988
      P-type_ATPase_SERCA; sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA), similar to mammalian ATP2A1-3/SERCA1-3
    5. NM_170665.4 → NP_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 longest transcript and encodes the longest isoform (b, also known as SERCA2b, S2b or HK1).
      Source sequence(s)
      AK000300, BC035588, BG773489, BI553880, BX648282
      Consensus CDS
      CCDS9144.1
      UniProtKB/Swiss-Prot
      A6NDN7, B4DF05, P16614, P16615, Q86VJ2
      UniProtKB/TrEMBL
      A0A0S2Z3L2, H7C5W9
      Related
      ENSP00000440045.2, ENST00000539276.7
      Conserved Domains (1) summary
      cd02083
      Location:5 → 988
      P-type_ATPase_SERCA; sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA), similar to mammalian ATP2A1-3/SERCA1-3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      110280616..110351093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538402.4 → XP_011536704.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform X1

      See identical proteins and their annotated locations for XP_011536704.1

      UniProtKB/TrEMBL
      H7C5W9
      Conserved Domains (6) summary
      TIGR01116
      Location:53 → 988
      ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
      pfam00122
      Location:93 → 340
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:783 → 986
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:4 → 72
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12710
      Location:605 → 711
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:419 → 527
      Cation_ATPase; Cation transport ATPase (P-type)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      110258258..110328744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372123.1 → XP_054228098.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform X1

      UniProtKB/TrEMBL
      H7C5W9

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