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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
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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)

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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