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ATP2B4 ATPase plasma membrane Ca2+ transporting 4 [ Homo sapiens (human) ]

Gene ID: 493, updated on 8-Jul-2021

Summary

Official Symbol
ATP2B4provided by HGNC
Official Full Name
ATPase plasma membrane Ca2+ transporting 4provided by HGNC
Primary source
HGNC:HGNC:817
See related
Ensembl:ENSG00000058668 MIM:108732
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
MXRA1; PMCA4; ATP2B2; PMCA4b; PMCA4x
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 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 66.6), fat (RPKM 45.1) and 23 other tissues See more
Orthologs
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Genomic context

See ATP2B4 in Genome Data Viewer
Location:
1q32.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (203626832..203744081)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203595960..203713209)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371688 Neighboring gene proline and arginine rich end leucine rich repeat protein Neighboring gene opticin Neighboring gene NSA2 pseudogene 1 Neighboring gene uncharacterized LOC102723543 Neighboring gene long intergenic non-protein coding RNA 260 Neighboring gene small nucleolar RNA, H/ACA box 77 Neighboring gene lymphocyte transmembrane adaptor 1 Neighboring gene zinc finger CCCH-type containing 11A Neighboring gene zinc finger BED-type containing 6

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
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Genome-wide association study indicates two novel resistance loci for severe malaria.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686M088, DKFZp686G08106

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled cation transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables P-type calcium transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables P-type calcium transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables P-type calcium transporter activity TAS
Traceable Author Statement
more info
 
enables PDZ domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nitric-oxide synthase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables nitric-oxide synthase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables protein phosphatase 2B binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein phosphatase 2B binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein phosphatase 2B binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables scaffold protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sodium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in calcium ion export IDA
Inferred from Direct Assay
more info
PubMed 
involved_in calcium ion import across plasma membrane IC
Inferred by Curator
more info
PubMed 
involved_in calcium ion transmembrane import into cytosol IC
Inferred by Curator
more info
PubMed 
involved_in calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular calcium ion homeostasis IC
Inferred by Curator
more info
PubMed 
involved_in cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to acetylcholine ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to epinephrine stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hippocampus development IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of arginine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of blood vessel endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of calcineurin-NFAT signaling cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of calcineurin-NFAT signaling cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cardiac muscle hypertrophy in response to stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cellular response to vascular endothelial growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of citrulline biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of nitric oxide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of nitric oxide mediated signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of nitric-oxide synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of peptidyl-cysteine S-nitrosylation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of the force of heart contraction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neural retina development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cAMP-dependent protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
involved_in regulation of cell cycle G1/S phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of sodium ion transmembrane transport IC
Inferred by Curator
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to hydrostatic pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in urinary bladder smooth muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in T-tubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in caveola TAS
Traceable Author Statement
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in integral component of presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane raft IC
Inferred by Curator
more info
PubMed 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of protein-containing complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in sperm principal piece IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
plasma membrane calcium-transporting ATPase 4
Names
ATPase, Ca++ transporting, plasma membrane 4
matrix-remodeling-associated protein 1
sarcolemmal calcium pump
NP_001001396.1
NP_001352712.1
NP_001352713.1
NP_001675.3

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_029589.1 RefSeqGene

    Range
    5001..122295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001396.3NP_001001396.1  plasma membrane calcium-transporting ATPase 4 isoform 4a

    See identical proteins and their annotated locations for NP_001001396.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (4a).
    Source sequence(s)
    AC114402, AL706212, AW888226, BF985985, DN997129, M83363
    Consensus CDS
    CCDS30977.1
    UniProtKB/Swiss-Prot
    P23634
    Related
    ENSP00000356187.3, ENST00000367218.7
    Conserved Domains (7) summary
    TIGR01517
    Location:201052
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam00122
    Location:153454
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:8681049
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:47111
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12424
    Location:10891151
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    pfam12710
    Location:655794
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:515604
    Cation_ATPase; Cation transport ATPase (P-type)
  2. NM_001365783.2NP_001352712.1  plasma membrane calcium-transporting ATPase 4 isoform 4c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variant 4, encodes isoform 4c.
    Source sequence(s)
    AC114402, AL513343
    Conserved Domains (2) summary
    pfam12424
    Location:10891150
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:201052
    E1-E2_ATPase; E1-E2 ATPase
  3. NM_001365784.2NP_001352713.1  plasma membrane calcium-transporting ATPase 4 isoform 4c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variant 3, encodes isoform 4c.
    Source sequence(s)
    AC114402, AL513343
    Conserved Domains (2) summary
    pfam12424
    Location:10891150
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:201052
    E1-E2_ATPase; E1-E2 ATPase
  4. NM_001684.5NP_001675.3  plasma membrane calcium-transporting ATPase 4 isoform 4b

    See identical proteins and their annotated locations for NP_001675.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4b) has a longer and distinct C-terminus compared to isoform 4a.
    Source sequence(s)
    AC114402, AL706212, AW888226, BF985985, DN997129, M25874
    Consensus CDS
    CCDS1440.1
    UniProtKB/Swiss-Prot
    P23634
    UniProtKB/TrEMBL
    A0A024R968
    Related
    ENSP00000350310.5, ENST00000357681.10
    Conserved Domains (2) summary
    TIGR01517
    Location:201052
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:10891135
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    203626832..203744081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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