ATP2B4 Gene (Protein Coding)

ATPase Plasma Membrane Ca2+ Transporting 4

GC01P203626
GIFtS:
46
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 plas... See more...

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 4
  • PMCA4 2 3 4
  • ATPase, Ca++ Transporting, Plasma Membrane 4 2 3
  • Matrix-Remodeling-Associated Protein 1 3 4
  • ATP2B2 3 4
  • MXRA1 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 7.2.2.10 4
  • EC 3.6.3.8 51
  • EC 3.6.3 51
  • PMCA4b 3
  • PMCA4x 3
  • ATP2B4 5

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 X-Linked Cerebellar Ataxia and Malaria. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and cGMP-PKG signaling pathway. 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 Summary 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 , Rfam classification and piRNA Summary for ATP2B4 Gene

Genomics for ATP2B4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATP2B4 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2B4

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

Genomic Locations for ATP2B4 Gene

Latest Assembly
chr1:203,626,787-203,744,081
(GRCh38/hg38)
Size:
117,295 bases
Orientation:
Plus strand

Previous Assembly
chr1:203,595,960-203,713,209
(GRCh37/hg19 by Entrez Gene)
Size:
117,250 bases
Orientation:
Plus strand

chr1:203,595,689-203,713,209
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for ATP2B4 Gene

Proteins for ATP2B4 Gene

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  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2B4 Gene

Protein Expression for ATP2B4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ATP2B4 Gene

P23634:
  • FRMYSKGASEI
  • LLSGTHVMEGSGRMVVTAVG
  • VTAVGVNS
  • SSLTGES
  • TIVFNTFV
  • FDIDSGR
  • VRMVTGDNINTA
  • DKDPMLLSGTHVMEGSGRM
  • QILWFRGLNRIQTQ
  • VTISLAYSV
  • KDNNLVRHL
  • LWVNLIMDT
  • PYGRNKPLISRTMMKNILGHA
  • LYKVYTF
  • LAVQIGKAGL
  • IPPKKPKTFL
  • NTARAIATKCGIL
  • EASDIIL
  • LALATEPPT
  • DKTGTLT
  • APLHSPPS
  • KILPPEKEG
  • LRVLARSSPTDKHTLVKGIIDS
  • QFQLTVN
  • AGITVRMVTG
  • QYFVKFFIIG
  • GWIEGAAIL
  • IRNEKGE
  • VGDIAQVKYGDLLPADG
  • GTDVAKEA
  • VGNKTEC
  • NINTARAIA
  • NRMTVVQ
  • VTGDGTND
  • IEPMACDGLRTIC
  • VWEALQD
  • RIEQEQKF
  • SVRKSMSTV
  • DESSLTGE
  • VVGIEDPVRPEVP
  • AVPEGLPL

Post-translational modifications for ATP2B4 Gene

  • Ubiquitination at Lys59, Lys189, Lys252, Lys709, Lys1144, and Lys1156
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2B4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP2B4 Gene

Gene Families for ATP2B4 Gene

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

Protein Domains for ATP2B4 Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • E1-E2 ATPase-associated region
ProtoNet:

Suggested Antigen Peptide Sequences for ATP2B4 Gene

GenScript: Design optimal peptide antigens:
  • PMCA4b (A1X4Q1_HUMAN)
  • PMCA4x (A1X4Q2_HUMAN)
  • ATP2B4 protein (A7E2D8_HUMAN)
  • Plasma membrane calcium pump isoform 4 (AT2B4_HUMAN)
  • ATPase, Ca++ transporting, plasma membrane 4, isoform CRA_a (B1APW5_HUMAN)

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

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  6. Cell Lines for research

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:
Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10; Evidence={ECO:0000269|PubMed:8530416};.
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:0000166 nucleotide binding IEA --
GO:0005388 calcium-transporting ATPase activity IEA,IMP 8530416
GO:0005515 protein binding IPI 17242280
GO:0005516 calmodulin binding IDA 8530416
GO:0005524 ATP binding 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 Models for research

  • Taconic Biosciences Mouse Models for ATP2B4

Inhibitory RNAs for research

  • 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

COMPARTMENTS
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
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 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 NAS 15955804
GO:0005901 caveola TAS 11591728
GO:0005929 cilium IEA --
GO:0016020 membrane IEA,IDA 8530416
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

SIGNOR curated interactions for ATP2B4 Gene

Is activated by:

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 IC,ISS --
genes like me logo Genes that share ontologies with ATP2B4: view

Drugs & Compounds for ATP2B4 Gene

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(7) Drugs for ATP2B4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma Target, inhibitor 222
Halothane Approved, Vet_approved Pharma Target, inhibitor 3
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Phosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
genes like me logo Genes that share compounds with ATP2B4: view

Transcripts for ATP2B4 Gene

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mRNA/cDNA for ATP2B4 Gene

4 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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
SP1:
SP2: -
SP3: - -
SP4: -
SP5:

Relevant External Links for ATP2B4 Gene

GeneLoc Exon Structure for
ATP2B4

Expression for ATP2B4 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for ATP2B4 Gene
mRNA expression by GTEx for ATP2B4 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP2B4

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.

Evidence on tissue expression from TISSUES for ATP2B4 Gene

  • Nervous system(4.9)
  • Heart(4.6)
  • Muscle(4.5)
  • Blood(4.5)
  • Liver(4.4)
  • Eye(2.8)
  • Skin(2.7)
  • Intestine(2.6)
  • Kidney(2.5)
  • Lung(2.3)
  • Stomach(2.3)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with ATP2B4: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia ATP2B4 30 31
  • 99.64 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ATP2B4 30 31
  • 89.76 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ATP2B4 30 31
  • 87.12 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Atp2b4 30
  • 85.01 (n)
Mouse
(Mus musculus)
 Mammalia Atp2b4 30 17 31
  • 84.14 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ATP2B4 31
  • 81 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ATP2B4 31
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ATP2B4 30 31
  • 76.77 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ATP2B4 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atp2b4 30
  • 71.58 (n)
Zebrafish
(Danio rerio)
 Actinopterygii atp2b4 31
  • 79 (a)
 OneToOne
atp2b1b 30
  • 68.87 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta BEST:CK01140 32
  • 63 (a)
PMCA 31
  • 58 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea R05C11.3 32
  • 58 (a)
mca-2 31
  • 57 (a)
 ManyToMany
mca-3 31
  • 57 (a)
 ManyToMany
mca-1 31 32
  • 50 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PMC1 31
  • 35 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ACA8 30
  • 51.83 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.6027 30
Rice
(Oryza sativa)
 Liliopsida Os04g0605500 30
  • 51.06 (n)
Os.24860 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.192 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.5013 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 64 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU05154 30
  • 51.82 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAPB2B4.04c 30
  • 50.04 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.2122 30
Species where no ortholog for ATP2B4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
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:

  • AT2B4_HUMAN
  • A1X4Q1_HUMAN
  • A1X4Q2_HUMAN
  • A7E2D8_HUMAN
  • H0YDG5_HUMAN
  • H7BY13_HUMAN
  • H7BZS8_HUMAN
genes like me logo Genes that share paralogs with ATP2B4: view

Variants for ATP2B4 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2B4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1057519192 Uncertain Significance: not provided 203,720,690(+) G/A
NM_001684.5(ATP2B4):c.2548G>A (p.Val850Ile) 		MISSENSE
rs113186728 Likely Benign: not provided. Benign: not provided 203,727,553(+) G/AG/T
NM_001684.5(ATP2B4):c.3291G>A (p.Leu1097=) 		SYNONYMOUS
rs114362667 Benign: not provided 203,708,092(+) C/T
NM_001684.5(ATP2B4):c.1545C>T (p.Thr515=) 		SYNONYMOUS
rs138580420 Likely Benign: not provided 203,722,484(+) A/G
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg) 		MISSENSE
rs142011973 Benign: not provided 203,727,481(+) C/T
NM_001684.5(ATP2B4):c.3219C>T (p.Ala1073=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP2B4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
ATP2B4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2B4

SNP Genotyping and Copy Number Assays for research

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

Disorders for ATP2B4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ATP2B4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
x-linked cerebellar ataxia
malaria
  • malaria, susceptibility to
schnyder corneal dystrophy
  • sccd
long qt syndrome
  • long q-t syndrome
hereditary spastic paraplegia
  • familial spastic paraplegia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2B4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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 23
  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
  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 41
  5. Plasma membrane calcium ATPase 4 and the remodeling of calcium homeostasis in human colon cancer cells. (PMID: 19755660) Aung CS … Roberts-Thomson SJ (Carcinogenesis 2009) 3 23

ExternalLinks

View latest publications for ATP2B4 gene in Mastermind

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