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    ATP2B2 ATPase plasma membrane Ca2+ transporting 2 [ Homo sapiens (human) ]

    Gene ID: 491, updated on 11-Apr-2024

    Summary

    Official Symbol
    ATP2B2provided by HGNC
    Official Full Name
    ATPase plasma membrane Ca2+ transporting 2provided by HGNC
    Primary source
    HGNC:HGNC:815
    See related
    Ensembl:ENSG00000157087 MIM:108733; AllianceGenome:HGNC:815
    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
    PMCA2; DFNA82; PMCA2a; PMCA2i
    Summary
    The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 26.8), salivary gland (RPKM 5.2) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See ATP2B2 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (10324023..10708007, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (10317333..10702299, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (10365707..10661646, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10329829-10330444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10332275-10332877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19422 Neighboring gene Sharpr-MPRA regulatory region 4342 Neighboring gene long intergenic non-protein coding RNA 852 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:10362509-10363104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10369968-10370516 Neighboring gene ghrelin opposite strand/antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10380971-10381538 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:10394060-10394233 Neighboring gene ghrelin and obestatin prepropeptide Neighboring gene SEC13 homolog, nuclear pore and COPII coat complex component Neighboring gene microRNA 378b Neighboring gene MPRA-validated peak4536 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10436781-10437377 Neighboring gene microRNA 885 Neighboring gene Sharpr-MPRA regulatory region 15222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10512164-10512778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10512779-10513391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:10523895-10524396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10546593-10547259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10545926-10546592 Neighboring gene Sharpr-MPRA regulatory region 781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10613143-10613642 Neighboring gene ATP2B2 intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10638747-10639307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:10642497-10642998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10670941-10671440 Neighboring gene ATP2B2 intronic transcript 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10749701-10750202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10750203-10750702 Neighboring gene MPRA-validated peak4540 silencer Neighboring gene Sharpr-MPRA regulatory region 1605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10813659-10814160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10814161-10814660 Neighboring gene long intergenic non-protein coding RNA 606 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:10876658-10876792 Neighboring gene solute carrier family 6 member 11 Neighboring gene MPRA-validated peak4541 silencer Neighboring gene uncharacterized LOC105376950

    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
    Autosomal recessive nonsyndromic hearing loss 12
    MedGen: C1832394 OMIM: 601386 GeneReviews: Genetic Hearing Loss Overview
    Compare labs
    Hearing loss, autosomal dominant 82
    MedGen: C5676948 OMIM: 619804 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in GABA-ergic synapse NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendritic spine membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in glutamatergic synapse NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuronal cell body membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    plasma membrane calcium-transporting ATPase 2
    Names
    ATPase, Ca++ transporting, plasma membrane 2
    plasma membrane Ca(2+)-ATPase
    plasma membrane Ca2+ pump 2
    plasma membrane calcium ATPase
    plasma membrane calcium pump
    NP_001001331.1
    NP_001317540.1
    NP_001340493.1
    NP_001350791.1
    NP_001674.2
    XP_005265236.1
    XP_006713238.1
    XP_011532054.1
    XP_016861970.1
    XP_016861971.1
    XP_016861972.1
    XP_016861973.1
    XP_016861974.1
    XP_016861976.1
    XP_016861977.1
    XP_047304154.1
    XP_047304155.1
    XP_054202618.1
    XP_054202619.1
    XP_054202620.1
    XP_054202621.1
    XP_054202622.1
    XP_054202623.1
    XP_054202624.1
    XP_054202625.1
    XP_054202626.1
    XP_054202627.1
    XP_054202628.1
    XP_054202629.1

    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_012046.2 RefSeqGene

      Range
      207446..389009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001331.4NP_001001331.1  plasma membrane calcium-transporting ATPase 2 isoform 1

      See identical proteins and their annotated locations for NP_001001331.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1), also known as WB.
      Source sequence(s)
      AB210008, AC022384, AK308898, S95738, X63575
      Consensus CDS
      CCDS33701.1
      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
      UniProtKB/TrEMBL
      Q4LE63
      Related
      ENSP00000353414.2, ENST00000360273.7
      Conserved Domains (2) summary
      TIGR01517
      Location:121087
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam12424
      Location:11261172
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    2. NM_001330611.3NP_001317540.1  plasma membrane calcium-transporting ATPase 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three in-frame exons in the 5' coding region, and contains two additional exons in the 3' coding regions, resulting in novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC018839, AC022384, AC090841
      Consensus CDS
      CCDS82733.1
      UniProtKB/TrEMBL
      A0A2U3TZI3
      Related
      ENSP00000495228.1, ENST00000644807.2
    3. NM_001353564.1NP_001340493.1  plasma membrane calcium-transporting ATPase 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks three in-frame exons, compared to variant 1. The encoded isoform (2), also known as ZB, is shorter, compared to isoform 1. Variants 2 and 4 encode the same isoform.
      Source sequence(s)
      AC022384, AC090841, BM681464, L20977
      Consensus CDS
      CCDS2601.1
      UniProtKB/TrEMBL
      Q4LE63
      Conserved Domains (2) summary
      pfam12424
      Location:10811127
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      cl27747
      Location:121042
      E1-E2_ATPase; E1-E2 ATPase
    4. NM_001363862.1NP_001350791.1  plasma membrane calcium-transporting ATPase 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC018839, AC022384, AC090841
      Consensus CDS
      CCDS87040.1
      UniProtKB/TrEMBL
      A0A2U3TZI3, A0A2U3U055
      Related
      ENSP00000492732.2, ENST00000638646.2
      Conserved Domains (2) summary
      pfam12424
      Location:10811121
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      cl27747
      Location:121042
      E1-E2_ATPase; E1-E2 ATPase
    5. NM_001683.5NP_001674.2  plasma membrane calcium-transporting ATPase 2 isoform 2

      See identical proteins and their annotated locations for NP_001674.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three in-frame exons, compared to variant 1. The encoded isoform (2), also known as ZB, is shorter, compared to isoform 1. Variants 2 and 4 encode the same isoform.
      Source sequence(s)
      AB210008, AC022384, AK308898, X63575
      Consensus CDS
      CCDS2601.1
      UniProtKB/TrEMBL
      Q4LE63
      Related
      ENSP00000380267.1, ENST00000397077.6
      Conserved Domains (2) summary
      pfam12424
      Location:10811127
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      cl27747
      Location:121042
      E1-E2_ATPase; E1-E2 ATPase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      10324023..10708007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006487.2XP_016861976.1  plasma membrane calcium-transporting ATPase 2 isoform X4

      UniProtKB/TrEMBL
      Q4LE63
      Related
      ENSP00000494381.1, ENST00000646379.1
      Conserved Domains (2) summary
      pfam12424
      Location:10811127
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      cl27747
      Location:121042
      E1-E2_ATPase; E1-E2 ATPase
    2. XM_017006484.3XP_016861973.1  plasma membrane calcium-transporting ATPase 2 isoform X2

      UniProtKB/TrEMBL
      Q4LE63
      Conserved Domains (7) summary
      TIGR01517
      Location:121056
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam00122
      Location:161457
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:8721050
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:51113
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12424
      Location:10951142
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      pfam12710
      Location:659798
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:518607
      Cation_ATPase; Cation transport ATPase (P-type)
    3. XM_006713175.5XP_006713238.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      See identical proteins and their annotated locations for XP_006713238.1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
      UniProtKB/TrEMBL
      Q4LE63
      Conserved Domains (2) summary
      TIGR01517
      Location:121087
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam12424
      Location:11261172
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    4. XM_017006481.3XP_016861970.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
      UniProtKB/TrEMBL
      Q4LE63
      Conserved Domains (2) summary
      TIGR01517
      Location:121087
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam12424
      Location:11261172
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    5. XM_005265179.6XP_005265236.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      See identical proteins and their annotated locations for XP_005265236.1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
      UniProtKB/TrEMBL
      Q4LE63
      Conserved Domains (2) summary
      TIGR01517
      Location:121087
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam12424
      Location:11261172
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    6. XM_047448198.1XP_047304154.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    7. XM_011533752.4XP_011532054.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      See identical proteins and their annotated locations for XP_011532054.1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
      UniProtKB/TrEMBL
      Q4LE63
      Conserved Domains (2) summary
      TIGR01517
      Location:121087
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam12424
      Location:11261172
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    8. XM_047448199.1XP_047304155.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    9. XM_017006483.3XP_016861972.1  plasma membrane calcium-transporting ATPase 2 isoform X2

      UniProtKB/TrEMBL
      Q4LE63
      Related
      ENSP00000414854.2, ENST00000452124.2
      Conserved Domains (7) summary
      TIGR01517
      Location:121056
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam00122
      Location:161457
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:8721050
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:51113
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12424
      Location:10951142
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      pfam12710
      Location:659798
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:518607
      Cation_ATPase; Cation transport ATPase (P-type)
    10. XM_017006488.3XP_016861977.1  plasma membrane calcium-transporting ATPase 2 isoform X5

      UniProtKB/TrEMBL
      A0A2U3TZI3
      Conserved Domains (7) summary
      TIGR01517
      Location:121056
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam00122
      Location:161457
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:8721050
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:51113
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12424
      Location:10951159
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      pfam12710
      Location:659798
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:518607
      Cation_ATPase; Cation transport ATPase (P-type)
    11. XM_017006485.3XP_016861974.1  plasma membrane calcium-transporting ATPase 2 isoform X3

      UniProtKB/TrEMBL
      A0A2U3TZI3
      Related
      ENSP00000324172.6, ENST00000352432.9
      Conserved Domains (7) summary
      TIGR01517
      Location:121087
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam00122
      Location:161488
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:9031081
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:51113
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12424
      Location:11261190
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      pfam12710
      Location:690829
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:549638
      Cation_ATPase; Cation transport ATPase (P-type)
    12. XM_017006482.3XP_016861971.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
      UniProtKB/TrEMBL
      Q4LE63
      Related
      ENSP00000494716.1, ENST00000645850.1
      Conserved Domains (2) summary
      TIGR01517
      Location:121087
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam12424
      Location:11261172
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      10317333..10702299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346653.1XP_054202628.1  plasma membrane calcium-transporting ATPase 2 isoform X4

    2. XM_054346651.1XP_054202626.1  plasma membrane calcium-transporting ATPase 2 isoform X2

    3. XM_054346645.1XP_054202620.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    4. XM_054346647.1XP_054202622.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    5. XM_054346646.1XP_054202621.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    6. XM_054346643.1XP_054202618.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    7. XM_054346648.1XP_054202623.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    8. XM_054346644.1XP_054202619.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818
    9. XM_054346650.1XP_054202625.1  plasma membrane calcium-transporting ATPase 2 isoform X2

    10. XM_054346654.1XP_054202629.1  plasma membrane calcium-transporting ATPase 2 isoform X5

    11. XM_054346652.1XP_054202627.1  plasma membrane calcium-transporting ATPase 2 isoform X3

    12. XM_054346649.1XP_054202624.1  plasma membrane calcium-transporting ATPase 2 isoform X1

      UniProtKB/Swiss-Prot
      O00766, Q01814, Q12994, Q16818