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

    Gene ID: 493, updated on 4-Jan-2025

    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; AllianceGenome:HGNC:817
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203626832..203744081)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202890048..203007281)
    RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr1:203473836-203474011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:203480878-203481618 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:203481606-203482805 Neighboring gene uncharacterized LOC124904488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203486279-203487110 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203487943-203488774 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203488775-203489607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203491273-203492103 Neighboring gene opticin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203525277-203526201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203526215-203526792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203541106-203541988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203569376-203569876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203569877-203570377 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:203594954-203595828 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:203595829-203596701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203598915-203599601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1724 Neighboring gene NSA2 pseudogene 1 Neighboring gene uncharacterized LOC102723543 Neighboring gene long intergenic non-protein coding RNA 260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203722055-203722656 Neighboring gene small nucleolar RNA, H/ACA box 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2355 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:203741871-203742446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2357 Neighboring gene uncharacterized LOC128031836 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: 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 (18 hits/1270 screens)

    EBI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome-wide association study indicates two novel resistance loci for severe malaria.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • DKFZp686M088, DKFZp686G08106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables P-type calcium transporter activity  
    enables P-type calcium transporter activity PubMed 
    enables P-type calcium transporter activity  
    enables PDZ domain binding  
    enables calcium ion transmembrane transporter activity PubMed 
    enables calmodulin binding PubMed 
    enables metal ion binding  
    enables nitric-oxide synthase binding PubMed 
    enables nitric-oxide synthase inhibitor activity PubMed 
    enables protein binding PubMed 
    enables protein kinase binding  
    enables protein phosphatase 2B binding PubMed 
    enables protein phosphatase 2B binding PubMed 
    enables protein phosphatase 2B binding PubMed 
    enables scaffold protein binding  
    enables sodium channel regulator activity  
    Items 1 - 25 of 38
    Process Evidence Code Pubs
    involved_in calcium ion export PubMed 
    involved_in calcium ion import across plasma membrane PubMed 
    involved_in calcium ion transmembrane import into cytosol PubMed 
    involved_in calcium ion transmembrane transport PubMed 
    involved_in cellular response to acetylcholine  
    involved_in cellular response to epinephrine stimulus PubMed 
    involved_in flagellated sperm motility  
    involved_in hippocampus development  
    involved_in intracellular calcium ion homeostasis PubMed 
    involved_in intracellular calcium ion homeostasis PubMed 
    involved_in intracellular calcium ion homeostasis  
    involved_in monoatomic ion transmembrane transport  
    involved_in negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway PubMed 
    involved_in negative regulation of angiogenesis PubMed 
    involved_in negative regulation of arginine catabolic process PubMed 
    involved_in negative regulation of blood vessel endothelial cell migration PubMed 
    involved_in negative regulation of calcineurin-NFAT signaling cascade PubMed 
    involved_in negative regulation of calcineurin-NFAT signaling cascade PubMed 
    involved_in negative regulation of cardiac muscle hypertrophy in response to stress PubMed 
    involved_in negative regulation of cellular response to vascular endothelial growth factor stimulus PubMed 
    involved_in negative regulation of citrulline biosynthetic process PubMed 
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of nitric oxide biosynthetic process PubMed 
    involved_in negative regulation of nitric-oxide synthase activity PubMed 
    involved_in negative regulation of peptidyl-cysteine S-nitrosylation PubMed 
    involved_in negative regulation of the force of heart contraction PubMed 
    involved_in neural retina development  
    acts_upstream_of_negative_effect nitric oxide-cGMP-mediated signaling PubMed 
    involved_in positive regulation of protein localization to plasma membrane PubMed 
    involved_in regulation of cardiac conduction  
    involved_in regulation of cell cycle G1/S phase transition PubMed 
    involved_in regulation of cytosolic calcium ion concentration  
    involved_in regulation of sodium ion transmembrane transport PubMed 
    involved_in regulation of transcription by RNA polymerase II PubMed 
    involved_in response to hydrostatic pressure PubMed 
    involved_in spermatogenesis  
    involved_in transport across blood-brain barrier PubMed 
    involved_in urinary bladder smooth muscle contraction  
    Items 1 - 25 of 38
    Component Evidence Code Pubs
    located_in T-tubule PubMed 
    located_in Z disc PubMed 
    located_in basolateral plasma membrane  
    located_in caveola PubMed 
    located_in glutamatergic synapse  
    is_active_in intracellular membrane-bounded organelle  
    located_in membrane PubMed 
    located_in membrane PubMed 
    located_in membrane raft PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in presynaptic active zone membrane  
    part_of protein-containing complex  
    located_in sperm flagellum  
    located_in sperm principal piece  

    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
      5046..122295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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/TrEMBL
      A7E2D8
      Related
      ENSP00000340930.2, ENST00000341360.7
      Conserved Domains (7) summary
      TIGR01517
      Location:20 → 1052
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam00122
      Location:153 → 454
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:868 → 1049
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:47 → 111
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12424
      Location:1089 → 1151
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      pfam12710
      Location:655 → 794
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:515 → 604
      Cation_ATPase; Cation transport ATPase (P-type)
    2. NM_001365783.2 → NP_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
      UniProtKB/TrEMBL
      A7E2D8
      Conserved Domains (2) summary
      pfam12424
      Location:1089 → 1150
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      cl27747
      Location:20 → 1052
      E1-E2_ATPase; E1-E2 ATPase
    3. NM_001365784.2 → NP_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
      UniProtKB/TrEMBL
      A7E2D8
      Conserved Domains (2) summary
      pfam12424
      Location:1089 → 1150
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      cl27747
      Location:20 → 1052
      E1-E2_ATPase; E1-E2 ATPase
    4. NM_001684.5 → NP_001675.3  plasma membrane calcium-transporting ATPase 4 isoform 4b

      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/TrEMBL
      Q68DH9
      Related
      ENSP00000350310.5, ENST00000357681.10
      Conserved Domains (2) summary
      TIGR01517
      Location:20 → 1052
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam12424
      Location:1089 → 1135
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal

    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_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      202890048..203007281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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