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ATP2B4 Gene(Protein Coding)

ATPase Plasma Membrane Ca2+ Transporting 4

GCID:
GC01P203626
GIFtS:
53
Genes Participants
UDN Logo

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 3.6.3.8 4 56
  • 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 56
  • 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 Response to elevated platelet cytosolic Ca2+. 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ATP2B4 Gene

Promoters and enhancers for ATP2B4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I203624 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.6 1618 7.2 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A YBX1 ZNF2 ZBTB7B YY1 ATP2B4 ZC3H11A SNRPE MDM4 ZBED6 KDM5B OPTC SOX13 FMOD HNRNPA1P59
GH01I203647 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.2 +26.5 26491 10.6 HDGF PKNOX1 SIN3A IRF4 CBX5 ZNF548 FOS JUNB REST SMARCA4 ATP2B4 ZC3H11A MDM4 SNRPE ZBED6 SNORA77 OPTC PPP1R15B LOC100131747 FMOD
GH01I203533 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.5 -90.2 -90237 5.6 FOXA2 NFIB BRCA1 RAD21 RFX5 YY1 ELK1 RCOR1 ATF7 FOS ATP2B4 OPTC PRELP FMOD LOC100131747 GC01M203457 GC01P203608
GH01I203554 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.4 -68.9 -68902 5.4 BRCA1 GLIS2 ZNF143 FOS DEK SP3 REST TSHZ1 MAFF GLIS1 ATP2B4 OPTC LOC100131747 FMOD SNRPE GC01M203457 GC01P203608
GH01I203669 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 ATP2B4 ZBED6 SOX13 MDM4 SNORA77 LAX1 BTG2 LOC100421749
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP2B4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP2B4 gene promoter:

Genomic Locations for ATP2B4 Gene

Genomic Locations for ATP2B4 Gene
chr1:203,626,561-203,744,081
(GRCh38/hg38)
Size:
117,521 bases
Orientation:
Plus strand
chr1:203,595,689-203,713,209
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 posLast=5959, Lys189, posLast=252252, Lys709, Lys1144, Lys1156, and Lys1105
  • 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:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP2B4 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

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 17242280
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

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
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,IEA 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: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

Products:

  1. Drug

(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 0

(3) 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
genes like me logo Genes that share compounds with ATP2B4: view

Transcripts for ATP2B4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ATP2B4 Gene

(2) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(349) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP2B4 Gene

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

CRISPR Products

Inhibitory RNA 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
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

Products:

  1. Primer
  2. Gene Expression Assay

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

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

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(4.5)
  • 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
chimpanzee
(Pan troglodytes)
 Mammalia ATP2B4 33 34
  • 99.64 (n)
dog
(Canis familiaris)
 Mammalia ATP2B4 33 34
  • 89.76 (n)
cow
(Bos Taurus)
 Mammalia ATP2B4 33 34
  • 87.12 (n)
rat
(Rattus norvegicus)
 Mammalia Atp2b4 33
  • 85.01 (n)
mouse
(Mus musculus)
 Mammalia Atp2b4 33 16 34
  • 84.14 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ATP2B4 34
  • 81 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ATP2B4 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ATP2B4 33 34
  • 76.77 (n)
lizard
(Anolis carolinensis)
 Reptilia ATP2B4 34
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia atp2b4 33
  • 71.58 (n)
zebrafish
(Danio rerio)
 Actinopterygii atp2b4 34
  • 79 (a)
 OneToOne
atp2b1b 33
  • 68.87 (n)
fruit fly
(Drosophila melanogaster)
 Insecta BEST:CK01140 35
  • 63 (a)
PMCA 34
  • 58 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea R05C11.3 35
  • 58 (a)
mca-2 34
  • 57 (a)
 ManyToMany
mca-3 34
  • 57 (a)
 ManyToMany
mca-1 35 34
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PMC1 34
  • 35 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons ACA8 33
  • 51.83 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.6027 33
rice
(Oryza sativa)
 Liliopsida Os04g0605500 33
  • 51.06 (n)
Os.24860 33
barley
(Hordeum vulgare)
 Liliopsida Hv.192 33
wheat
(Triticum aestivum)
 Liliopsida Ta.5013 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 64 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for ATP2B4 (if available)
TreeFam:
Gene Tree for ATP2B4 (if available)

Paralogs for ATP2B4 Gene

Paralogs for ATP2B4 Gene

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

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

Variants for ATP2B4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

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

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
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2B4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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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