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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

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

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_001001396.3NP_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/TrEMBL
    A7E2D8
    Related
    ENSP00000340930.2, ENST00000341360.7
    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
    UniProtKB/TrEMBL
    A7E2D8
    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
    UniProtKB/TrEMBL
    A7E2D8
    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/TrEMBL
    Q68DH9
    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: 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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