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Aliases for ATP2B4 Gene

Aliases for ATP2B4 Gene

  • ATPase Plasma Membrane Ca2+ Transporting 4 2 3
  • ATPase, Ca++ Transporting, Plasma Membrane 4 2 3 5
  • Matrix-Remodeling-Associated Protein 1 3 4
  • EC 3.6.3.8 4 63
  • ATP2B2 3 4
  • MXRA1 3 4
  • PMCA4 3 4
  • Plasma Membrane Calcium-Transporting ATPase 4 2
  • 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 63
  • 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 cGMP-PKG signaling pathway and Calcium signaling pathway. GO annotations related to this gene include nucleotide binding and scaffold protein binding. An important paralog of this gene is ATP2B3.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ATP2B4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP2B4 Gene

Chromosome:
1
Start:
203,626,561 bp from pter
End:
203,744,081 bp from pter
Size:
117,521 bases
Orientation:
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:
    P23634-AT2B4_HUMAN
    Recommended name:
    Plasma membrane calcium-transporting ATPase 4
    Protein Accession:
    P23634
    Secondary Accessions:
    • B1APW5
    • B1APW6
    • Q13450
    • Q13452
    • Q13455
    • Q16817
    • Q7Z3S1

    Protein attributes for ATP2B4 Gene

    Size:
    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

Proteomics data for ATP2B4 Gene at MOPED

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

P23634

UniProtKB/Swiss-Prot:

AT2B4_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
Family:
  • 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:0005515 protein binding IPI 11274188
GO:0030346 protein phosphatase 2B binding IDA 19287093
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

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

COMPARTMENTS
Jensen Localization Image for ATP2B4 Gene COMPARTMENTS Subcellular localization image for ATP2B4 gene
Compartment Confidence
plasma membrane 5
cytosol 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP2B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005901 caveola TAS 11591728
GO:0016323 basolateral plasma membrane IEA --
GO:0042383 sarcolemma 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:0006816 calcium ion transport IEA --
GO:0007596 blood coagulation TAS --
GO:0008152 metabolic process IEA --
GO:0010751 negative regulation of nitric oxide mediated signal transduction IDA 19278978
GO:0030317 sperm motility 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
Adenosine triphosphate Approved Nutra 0
calcium Nutra 0
Magnesium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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
SP1:
SP2: -
SP3: - -
SP4: -
SP5:

Relevant External Links for ATP2B4 Gene

GeneLoc Exon Structure for
ATP2B4
ECgene alternative splicing isoforms for
ATP2B4

Expression for ATP2B4 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ATP2B4 Gene



SOURCE GeneReport for Unigene cluster for ATP2B4 Gene Hs.343522

mRNA Expression by UniProt/SwissProt for ATP2B4 Gene

P23634-AT2B4_HUMAN
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

Protein tissue co-expression partners for ATP2B4 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ATP2B4 35
  • 87.12 (n)
  • 90.55 (a)
ATP2B4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2B4 35
  • 89.76 (n)
  • 90.95 (a)
ATP2B4 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2b4 35
  • 84.14 (n)
  • 84.78 (a)
Atp2b4 16
Atp2b4 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP2B4 35
  • 99.64 (n)
  • 99.92 (a)
ATP2B4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2b4 35
  • 85.01 (n)
  • 87.68 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2B4 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2B4 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP2B4 35
  • 76.77 (n)
  • 82.51 (a)
ATP2B4 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2B4 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2b4 35
  • 71.58 (n)
  • 81.07 (a)
zebrafish
(Danio rerio)
Actinopterygii atp2b1b 35
  • 68.87 (n)
  • 75.21 (a)
atp2b4 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 37
  • 63 (a)
PMCA 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mca-1 37
  • 54 (a)
R05C11.3 37
  • 58 (a)
mca-1 36
  • 50 (a)
ManyToMany
mca-2 36
  • 57 (a)
ManyToMany
mca-3 36
  • 57 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 36
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACA8 35
  • 51.83 (n)
  • 46.24 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6027 35
barley
(Hordeum vulgare)
Liliopsida Hv.192 35
rice
(Oryza sativa)
Liliopsida Os.24860 35
Os04g0605500 35
  • 51.06 (n)
  • 45.33 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5013 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2122 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05154 35
  • 51.82 (n)
  • 45.09 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB2B4.04c 35
  • 50.04 (n)
  • 44.77 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToMany
Species with no ortholog for ATP2B4:
  • 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

ENSEMBL:
Gene Tree for ATP2B4 (if available)
TreeFam:
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
rs1105907 -- 203,642,369(-) CAGTG(A/T)TTCAC intron-variant
rs1106891 -- 203,642,035(+) CTGGG(C/T)GTGCT intron-variant
rs1172053 -- 203,708,585(+) ggcat(A/G)gtggc intron-variant
rs1172054 -- 203,708,644(+) ttgag(C/G)ccagg intron-variant
rs1419114 -- 203,683,316(+) CGTTC(A/G)AGGGA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv2663220 CNV Deletion 23128226
nsv467994 CNV Loss 19166990
esv2661127 CNV Deletion 23128226
esv2721795 CNV Deletion 23290073
esv26128 CNV Gain 19812545
nsv820549 CNV Deletion 20802225

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

HapMap Linkage Disequilibrium report
ATP2B4
Human Gene Mutation Database (HGMD)
ATP2B4

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
  • malaria, severe
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP2B4

Genetic Association Database (GAD)
ATP2B4
Human Genome Epidemiology (HuGE) Navigator
ATP2B4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2B4
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 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 23 67
  2. Plasma membrane calcium ATPase 4 and the remodeling of calcium homeostasis in human colon cancer cells. (PMID: 19755660) Aung C.S. … Roberts-Thomson S.J. (Carcinogenesis 2009) 3 23
  3. Plasma membrane calcium ATPase (PMCA4): a housekeeper for RT-PCR relative quantification of polytopic membrane proteins. (PMID: 16978418) Calcagno A.M. … Ambudkar S.V. (BMC Mol. Biol. 2006) 3 23
  4. Plasma membrane calcium-ATPase 2 and 4 in human breast cancer cell lines. (PMID: 16216224) Lee W.J. … Monteith G.R. (Biochem. Biophys. Res. Commun. 2005) 3 23
  5. Loss of autoinhibition of the plasma membrane Ca(2+) pump by substitution of aspartic 170 by asparagin. A ctivation of plasma membrane calcium ATPase 4 without disruption of the interaction between the catalytic core and the C-terminal regulatory domain. (PMID: 15292209) Bredeston L.M. … Adamo H.P. (J. Biol. Chem. 2004) 3 23

Products for ATP2B4 Gene

Sources for ATP2B4 Gene

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