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Aliases for ATP2B4 Gene

Aliases for ATP2B4 Gene

  • ATPase Plasma Membrane Ca2+ Transporting 4 2 3 5
  • Plasma Membrane Calcium-Transporting ATPase 4 2 3
  • ATPase, Ca++ Transporting, Plasma Membrane 4 2 3
  • Matrix-Remodeling-Associated Protein 1 3 4
  • EC 4 61
  • ATP2B2 3 4
  • MXRA1 3 4
  • PMCA4 3 4
  • Plasma Membrane Calcium ATPase Isoform 4 4
  • Plasma Membrane Calcium Pump Isoform 4 4
  • Matrix-Remodelling Associated 1 2
  • Sarcolemmal Calcium Pump 3
  • EC 3.6.3 61
  • PMCA4b 3
  • PMCA4x 3

External Ids for ATP2B4 Gene

Previous HGNC Symbols for ATP2B4 Gene

  • ATP2B2
  • MXRA1

Previous GeneCards Identifiers for ATP2B4 Gene

  • GC01P201313
  • GC01P199112
  • GC01P199956
  • GC01P200773
  • GC01P200327
  • GC01P201862
  • GC01P203595
  • GC01P174761

Summaries for ATP2B4 Gene

Entrez Gene Summary for ATP2B4 Gene

  • 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]

GeneCards Summary for ATP2B4 Gene

ATP2B4 (ATPase Plasma Membrane Ca2+ Transporting 4) is a Protein Coding gene. Diseases associated with ATP2B4 include Corneal Dystrophy, Schnyder Type and Malaria. Among its related pathways are Ion channel transport and Cardiac conduction. GO annotations related to this gene include nucleotide binding and scaffold protein binding. An important paralog of this gene is ATP2B1.

UniProtKB/Swiss-Prot for ATP2B4 Gene

  • Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity).

Gene Wiki entry for ATP2B4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2B4 Gene

Genomics for ATP2B4 Gene

Regulatory Elements for ATP2B4 Gene

Enhancers for ATP2B4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F203533 1.5 FANTOM5 Ensembl ENCODE 20.5 -90.2 -90238 5.6 PKNOX1 SIN3A BRCA1 YY1 ELK1 ZNF143 FOS DEK ZNF263 REST ATP2B4 OPTC PRELP FMOD LOC100131747 GC01M203457 GC01P203608
GH01F203553 1.3 Ensembl ENCODE 21.5 -69.7 -69692 6.9 HDGF PKNOX1 ZNF133 SIN3A GLI4 YBX1 ZNF2 BRCA1 GLIS2 ZNF207 SNRPE ATP2B4 ZBED6 MDM4 LOC100506747 HNRNPA1P59 OPTC PPP1R15B ENSG00000260021 SNORA77
GH01F203589 1.6 FANTOM5 Ensembl ENCODE 16.3 -34.7 -34726 5.3 SIN3A ZNF2 BRCA1 ZNF121 GLIS2 FOS DEK SP3 TSHZ1 REST ATP2B4 OPTC PRELP LOC100131747 FMOD BTG2 ZC3H11A GC01P203608 GC01M203457
GH01F203647 1.8 FANTOM5 Ensembl ENCODE 13.1 +26.5 26492 10.6 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 ZNF2 YY1 ZNF766 ZNF548 ZBED6 MDM4 ATP2B4 SNRPE SNORA77 OPTC PPP1R15B LOC100131747 FMOD LOC730222
GH01F203669 1.6 FANTOM5 Ensembl ENCODE 13.3 +47.0 47030 8.0 PKNOX1 ATF1 ARNT SIN3A ZNF2 ZNF48 ZNF121 GATA2 FOS DEK ATP2B4 SNORA77 LAX1 BTG2 LOC100421749 PIR31474
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP2B4 on UCSC Golden Path with GeneCards custom track

Promoters for ATP2B4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000551174 1539 3801 HDGF ATF1 WRNIP1 SIN3A YBX1 GLIS2 ZNF263 SP3 SP5 SMARCB1

Genomic Location for ATP2B4 Gene

203,626,561 bp from pter
203,744,081 bp from pter
117,521 bases
Plus strand

Genomic View for ATP2B4 Gene

Genes around ATP2B4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2B4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2B4 Gene

Proteins for ATP2B4 Gene

  • Protein details for ATP2B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Plasma membrane calcium-transporting ATPase 4
    Protein Accession:
    Secondary Accessions:
    • B1APW5
    • B1APW6
    • Q13450
    • Q13452
    • Q13455
    • Q16817
    • Q7Z3S1

    Protein attributes for ATP2B4 Gene

    1241 amino acids
    Molecular mass:
    137920 Da
    Quaternary structure:
    • Interacts with PDZD11 (PubMed:12763866). Interacts with SLC35G1 and STIM1 (PubMed:22084111). Interacts with calmodulin (PubMed:2963820, PubMed:10493800).

    Three dimensional structures from OCA and Proteopedia for ATP2B4 Gene

    Alternative splice isoforms for ATP2B4 Gene

neXtProt entry for ATP2B4 Gene

Selected DME Specific Peptides for ATP2B4 Gene


Post-translational modifications for ATP2B4 Gene

  • Ubiquitination at Lys 59, Lys 189, Lys 252, Lys 709, Lys 1144, Lys 1156, and Lys 1105
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2B4 Gene

Domains & Families for ATP2B4 Gene

Gene Families for ATP2B4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
genes like me logo Genes that share domains with ATP2B4: view

Function for ATP2B4 Gene

Molecular function for ATP2B4 Gene

GENATLAS Biochemistry:
ATPase,Ca++ transporting,B4 plasma membrane,mediating the extrusion of CA2+ from the cell
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium/calmodulin.
UniProtKB/Swiss-Prot Function:
Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity).

Enzyme Numbers (IUBMB) for ATP2B4 Gene

Gene Ontology (GO) - Molecular Function for ATP2B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IEA,TAS --
GO:0005515 protein binding IPI 17242280
GO:0005516 calmodulin binding IEA,IDA 8530416
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ATP2B4: view
genes like me logo Genes that share phenotypes with ATP2B4: view

Animal Models for ATP2B4 Gene

MGI Knock Outs for ATP2B4:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP2B4

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP2B4 Gene

Localization for ATP2B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2B4 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, cilium, flagellum membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2B4 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ATP2B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 2137451
GO:0005901 caveola TAS 11591728
GO:0016020 membrane IEA,IDA 8530416
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP2B4: view

Pathways & Interactions for ATP2B4 Gene

genes like me logo Genes that share pathways with ATP2B4: view

Gene Ontology (GO) - Biological Process for ATP2B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003407 neural retina development IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IMP 19287093
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with ATP2B4: view

No data available for SIGNOR curated interactions for ATP2B4 Gene

Drugs & Compounds for ATP2B4 Gene

(5) Drugs for ATP2B4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
calcium Nutra 0
Magnesium Nutra 0

(3) Additional Compounds for ATP2B4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
genes like me logo Genes that share compounds with ATP2B4: view

Transcripts for ATP2B4 Gene

Unigene Clusters for ATP2B4 Gene

ATPase, Ca++ transporting, plasma membrane 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP2: -
SP3: - -
SP4: -

Relevant External Links for ATP2B4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP2B4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP2B4 Gene

mRNA differential expression in normal tissues according to GTEx for ATP2B4 Gene

This gene is overexpressed in Colon - Sigmoid (x4.0).

Protein differential expression in normal tissues from HIPED for ATP2B4 Gene

This gene is overexpressed in Brain (10.7) and Retina (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP2B4 Gene

Protein tissue co-expression partners for ATP2B4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP2B4 Gene:


SOURCE GeneReport for Unigene cluster for ATP2B4 Gene:


mRNA Expression by UniProt/SwissProt for ATP2B4 Gene:

Tissue specificity: Isoform XB is the most abundant isoform and is expressed ubiquitously. Isoforms containing segment Z have only been detected in heart, while isoforms containing segment a have been found in heart, stomach and brain cortex.
genes like me logo Genes that share expression patterns with ATP2B4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ATP2B4 Gene

Orthologs for ATP2B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATP2B4 34 35
  • 99.64 (n)
(Canis familiaris)
Mammalia ATP2B4 34 35
  • 89.76 (n)
(Bos Taurus)
Mammalia ATP2B4 34 35
  • 87.12 (n)
(Rattus norvegicus)
Mammalia Atp2b4 34
  • 85.01 (n)
(Mus musculus)
Mammalia Atp2b4 34 16 35
  • 84.14 (n)
(Ornithorhynchus anatinus)
Mammalia ATP2B4 35
  • 81 (a)
(Monodelphis domestica)
Mammalia ATP2B4 35
  • 73 (a)
(Gallus gallus)
Aves ATP2B4 34 35
  • 76.77 (n)
(Anolis carolinensis)
Reptilia ATP2B4 35
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2b4 34
  • 71.58 (n)
(Danio rerio)
Actinopterygii atp2b4 35
  • 79 (a)
atp2b1b 34
  • 68.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 36
  • 63 (a)
  • 58 (a)
(Caenorhabditis elegans)
Secernentea R05C11.3 36
  • 58 (a)
mca-2 35
  • 57 (a)
mca-3 35
  • 57 (a)
mca-1 36 35
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 35
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACA8 34
  • 51.83 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6027 34
(Oryza sativa)
Liliopsida Os04g0605500 34
  • 51.06 (n)
Os.24860 34
(Hordeum vulgare)
Liliopsida Hv.192 34
(Triticum aestivum)
Liliopsida Ta.5013 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05154 34
  • 51.82 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB2B4.04c 34
  • 50.04 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2122 34
Species where no ortholog for ATP2B4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP2B4 Gene

Gene Tree for ATP2B4 (if available)
Gene Tree for ATP2B4 (if available)

Paralogs for ATP2B4 Gene

Paralogs for ATP2B4 Gene

genes like me logo Genes that share paralogs with ATP2B4: view

Variants for ATP2B4 Gene

Sequence variations from dbSNP and Humsavar for ATP2B4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs193920934 Uncertain significance 203,703,713(+) ATCGA(A/C)AATGA reference, missense
rs10047187 -- 203,734,576(+) tggtg(C/T)gtgcc intron-variant
rs10047213 -- 203,734,701(+) actcc(A/G)tctca intron-variant
rs10453881 -- 203,631,725(+) cctac(G/T)tctag intron-variant
rs10453882 -- 203,632,078(+) agccc(A/G)gccac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2B4 Gene

Variant ID Type Subtype PubMed ID
nsv946594 CNV duplication 23825009
nsv820549 CNV deletion 20802225
nsv549007 CNV loss 21841781
nsv467994 CNV loss 19166990
nsv1120076 OTHER inversion 24896259
esv3588598 CNV loss 21293372
esv3545389 CNV deletion 23714750
esv2762217 CNV gain 21179565
esv2721795 CNV deletion 23290073
esv2663220 CNV deletion 23128226
esv2661127 CNV deletion 23128226
esv26128 CNV gain 19812545
dgv783n54 CNV loss 21841781
dgv782n54 CNV loss 21841781
dgv781n54 CNV loss 21841781
dgv780n54 CNV loss 21841781
dgv779n54 CNV loss 21841781
dgv778n54 CNV loss 21841781

Variation tolerance for ATP2B4 Gene

Residual Variation Intolerance Score: 19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP2B4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2B4 Gene

Disorders for ATP2B4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP2B4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, schnyder type
  • schnyder corneal dystrophy
  • malaria, severe
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP2B4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ATP2B4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP2B4 Gene

Publications for ATP2B4 Gene

  1. Analysis of mRNA expression and cloning of a novel plasma membrane Ca(2+)-ATPase splice variant in human heart. (PMID: 8700162) Santiago-Garcia J. … Zarain-Herzberg A. (Mol. Cell. Biochem. 1996) 3 4 22 64
  2. Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels. (PMID: 1531651) Brandt P. … Vanaman T.C. (J. Biol. Chem. 1992) 3 4 22 64
  3. POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G. … Clapham D.E. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret G.B. … Chakravarti A. (Eur. J. Hum. Genet. 2009) 3 46 64

Products for ATP2B4 Gene

Sources for ATP2B4 Gene

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