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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
  • 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 4
  • 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 Schnyder Corneal Dystrophy and Long Qt Syndrome. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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

Additional gene information for ATP2B4 Gene

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

Genomics for ATP2B4 Gene

GeneHancer (GH) Regulatory Elements for ATP2B4 Gene

Promoters and enhancers for ATP2B4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J203624 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +1.6 1618 7.2 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A YBX1 ZNF2 ZBTB7B YY1 ATP2B4 ZC3H11A MDM4 SNRPE ZBED6 HNRNPA1P59 KDM5B PPP1R15B OPTC SOX13
GH01J203533 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.5 -90.2 -90237 5.6 FOXA2 NFIB BRCA1 RAD21 RFX5 YY1 ELK1 EGR1 RCOR1 ATF7 ATP2B4 OPTC PRELP FMOD LOC100131747 GC01M203457 GC01P203608
GH01J203554 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.4 -68.9 -68902 5.4 SIN3A BRCA1 GLIS2 ZNF143 FOS DEK SP3 REST TSHZ1 MAFF ATP2B4 OPTC LOC100131747 FMOD SNRPE GC01M203457 GC01P203608
GH01J203647 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +26.5 26491 10.6 HDGF PKNOX1 SIN3A IRF4 CBX5 ZNF548 FOS JUNB REST SMARCA4 ZC3H11A MDM4 ATP2B4 SNRPE ZBED6 SNORA77 OPTC PPP1R15B LOC100131747 FMOD
GH01J203669 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +47.0 47029 8 PKNOX1 ATF1 FOXA2 ARNT ZNF48 TCF12 ZNF766 ATF7 FOS DEK SNRPE ZC3H11A ZBED6 ATP2B4 SOX13 MDM4 SNORA77 LAX1 BTG2 LOC100421749
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP2B4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP2B4 gene promoter:
  • Pax-5
  • USF1
  • USF-1
  • ISGF-3
  • Ik-2
  • MAZR
  • AML1a
  • STAT1beta
  • S8
  • STAT1

Genomic Locations for ATP2B4 Gene

Genomic Locations for ATP2B4 Gene
117,521 bases
Plus strand
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

Post-translational modifications for ATP2B4 Gene

  • Ubiquitination at Lys1105, Lys1156, Lys1144, posLast=709709, Lys252, posLast=189189, and posLast=5959
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2B4 Gene

No data available for DME Specific Peptides for ATP2B4 Gene

Domains & Families for ATP2B4 Gene

Gene Families for ATP2B4 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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

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).
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.
GENATLAS Biochemistry:
ATPase,Ca++ transporting,B4 plasma membrane,mediating the extrusion of CA2+ from the cell

Enzyme Numbers (IUBMB) for ATP2B4 Gene

Phenotypes From GWAS Catalog 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 TAS,IMP --
GO:0005515 protein binding IPI 11591728
GO:0005516 calmodulin binding 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B4

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP2B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2137451
GO:0005901 caveola TAS 11591728
GO:0016020 membrane 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 by RNA polymerase II IMP 19287093
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IDA,ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Water Approved Pharma 0
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
genes like me logo Genes that share compounds with ATP2B4: view

Transcripts for ATP2B4 Gene

mRNA/cDNA for ATP2B4 Gene

Unigene Clusters for ATP2B4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B4

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for ATP2B4 Gene

  • Nervous system(4.9)
  • Heart(4.5)
  • Muscle(4.5)
  • Blood(4.4)
  • Liver(4.2)
  • Eye(2.6)
  • Intestine(2.4)
  • Kidney(2.4)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ATP2B4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.64 (n)
(Canis familiaris)
Mammalia ATP2B4 34 33
  • 89.76 (n)
(Bos Taurus)
Mammalia ATP2B4 34 33
  • 87.12 (n)
(Rattus norvegicus)
Mammalia Atp2b4 33
  • 85.01 (n)
(Mus musculus)
Mammalia Atp2b4 16 34 33
  • 84.14 (n)
(Ornithorhynchus anatinus)
Mammalia ATP2B4 34
  • 81 (a)
(Monodelphis domestica)
Mammalia ATP2B4 34
  • 73 (a)
(Gallus gallus)
Aves ATP2B4 34 33
  • 76.77 (n)
(Anolis carolinensis)
Reptilia ATP2B4 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2b4 33
  • 71.58 (n)
(Danio rerio)
Actinopterygii atp2b4 34
  • 79 (a)
atp2b1b 33
  • 68.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 35
  • 63 (a)
  • 58 (a)
(Caenorhabditis elegans)
Secernentea R05C11.3 35
  • 58 (a)
mca-2 34
  • 57 (a)
mca-3 34
  • 57 (a)
mca-1 34 35
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 34
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACA8 33
  • 51.83 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6027 33
(Oryza sativa)
Liliopsida Os04g0605500 33
  • 51.06 (n)
Os.24860 33
(Triticum aestivum)
Liliopsida Ta.5013 33
(Hordeum vulgare)
Liliopsida Hv.192 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
Cin.2122 33
bread mold
(Neurospora crassa)
Ascomycetes NCU05154 33
  • 51.82 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB2B4.04c 33
  • 50.04 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2122 33
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)
Evolutionary constrained regions (ECRs) for ATP2B4: view image

Paralogs for ATP2B4 Gene

Paralogs for ATP2B4 Gene

(6) SIMAP similar genes for ATP2B4 Gene using alignment to 7 proteins:

  • A1X4Q1_HUMAN
  • A1X4Q2_HUMAN
  • A7E2D8_HUMAN
  • H7BY13_HUMAN
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 Variation AA Info Type
rs193920934 uncertain-significance, Malignant tumor of prostate 203,703,713(+) C/A coding_sequence_variant, missense_variant
rs1057519192 uncertain-significance, not provided 203,720,690(+) G/A coding_sequence_variant, missense_variant
rs1000007815 -- 203,684,700(+) T/C intron_variant
rs1000026897 -- 203,638,237(+) G/A intron_variant
rs1000030274 -- 203,722,333(+) C/A intron_variant

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

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

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)

Additional Variant Information 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

(3) MalaCards diseases for ATP2B4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schnyder corneal dystrophy
  • sccd
long qt syndrome
  • romano-ward syndrome
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2B4

Genetic Association Database
Human Genome Epidemiology 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-García J … Zarain-Herzberg A (Molecular and cellular biochemistry 1996) 3 4 22 58
  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 TC (The Journal of biological chemistry 1992) 3 4 22 58
  3. POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58

Products for ATP2B4 Gene

Sources for ATP2B4 Gene

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