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Aliases for ATP2B3 Gene

Aliases for ATP2B3 Gene

  • ATPase, Ca++ Transporting, Plasma Membrane 3 2 3
  • PMCA3 3 4 6
  • Plasma Membrane Calcium-Transporting ATPase 3 2 3
  • Cilia And Flagella Associated Protein 39 2 3
  • EC 3.6.3.8 4 63
  • SCAX1 3 6
  • Plasma Membrane Calcium ATPase Isoform 3 4
  • Plasma Membrane Calcium Pump Isoform 3 4
  • Spinocerebellar Ataxia, X-Linked 1 2
  • Cerebellar Ataxia 2 (X-Linked) 2
  • Plasma Membrane Calcium ATPase 3
  • Plasma Membrane Calcium Pump 3
  • EC 3.6.3 63
  • CFAP39 3
  • PMCA3a 3
  • OPCA 3
  • CLA2 3

External Ids for ATP2B3 Gene

Previous HGNC Symbols for ATP2B3 Gene

  • SCAX1
  • CLA2

Previous GeneCards Identifiers for ATP2B3 Gene

  • GC0XP146939
  • GC0XP149256
  • GC0XP150387
  • GC0XP151269
  • GC0XP152322
  • GC0XP152436
  • GC0XP152783
  • GC0XP141461

Summaries for ATP2B3 Gene

Entrez Gene Summary for ATP2B3 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 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP2B3 Gene

ATP2B3 (ATPase, Ca++ Transporting, Plasma Membrane 3) is a Protein Coding gene. Diseases associated with ATP2B3 include spinocerebellar ataxia, x-linked 1 and x-linked progressive cerebellar ataxia. Among its related pathways are CREB Pathway and Platelet homeostasis. GO annotations related to this gene include calmodulin binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2B1.

UniProtKB/Swiss-Prot for ATP2B3 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell

Gene Wiki entry for ATP2B3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2B3 Gene

Genomics for ATP2B3 Gene

Regulatory Elements for ATP2B3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP2B3 Gene

Start:
153,517,676 bp from pter
End:
153,582,939 bp from pter
Size:
65,264 bases
Orientation:
Plus strand

Genomic View for ATP2B3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP2B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2B3 Gene

Proteins for ATP2B3 Gene

  • Protein details for ATP2B3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16720-AT2B3_HUMAN
    Recommended name:
    Plasma membrane calcium-transporting ATPase 3
    Protein Accession:
    Q16720
    Secondary Accessions:
    • B7WNR8
    • B7WNY5
    • Q12995
    • Q16858

    Protein attributes for ATP2B3 Gene

    Size:
    1220 amino acids
    Molecular mass:
    134197 Da
    Quaternary structure:
    • Interacts with PDZD11.

    Alternative splice isoforms for ATP2B3 Gene

neXtProt entry for ATP2B3 Gene

Proteomics data for ATP2B3 Gene at MOPED

Post-translational modifications for ATP2B3 Gene

  • Ubiquitination at Lys194 and Lys803
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2B3 Gene

Domains for ATP2B3 Gene

Gene Families for ATP2B3 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

Suggested Antigen Peptide Sequences for ATP2B3 Gene

Graphical View of Domain Structure for InterPro Entry

Q16720

UniProtKB/Swiss-Prot:

AT2B3_HUMAN :
  • Q16720
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 ATP2B3: view

Function for ATP2B3 Gene

Molecular function for ATP2B3 Gene

GENATLAS Biochemistry: ATPase,Ca++ transporting,B3 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 Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell

Enzyme Numbers (IUBMB) for ATP2B3 Gene

Gene Ontology (GO) - Molecular Function for ATP2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005388 calcium-transporting ATPase activity IEA --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP2B3: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP2B3

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ATP2B3 Gene

Localization for ATP2B3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2B3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP2B3 Gene COMPARTMENTS Subcellular localization image for ATP2B3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IDA 24769233
genes like me logo Genes that share ontologies with ATP2B3: view

Pathways for ATP2B3 Gene

genes like me logo Genes that share pathways with ATP2B3: view

Gene Ontology (GO) - Biological Process for ATP2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8765088
GO:0007596 blood coagulation TAS --
GO:0008152 metabolic process IEA --
GO:0008219 cell death --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP2B3: view

Compounds for ATP2B3 Gene

(6) HMDB Compounds for ATP2B3 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2
genes like me logo Genes that share compounds with ATP2B3: view

Transcripts for ATP2B3 Gene

Unigene Clusters for ATP2B3 Gene

ATPase, Ca++ transporting, plasma membrane 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP2B3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATP2B3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c · 21d ^
SP1: - -
SP2: - - - - -
SP3:
SP4:
SP5: - -

ExUns: 22
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ATP2B3 Gene

GeneLoc Exon Structure for
ATP2B3
ECgene alternative splicing isoforms for
ATP2B3

Expression for ATP2B3 Gene

mRNA expression in normal human tissues for ATP2B3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP2B3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (6.6), Brain - Cerebellar Hemisphere (5.8), Brain - Cerebellum (5.7), Brain - Cortex (5.6), and Brain - Anterior cingulate cortex (BA24) (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ATP2B3 Gene

SOURCE GeneReport for Unigene cluster for ATP2B3 Gene Hs.533956

mRNA Expression by UniProt/SwissProt for ATP2B3 Gene

Q16720-AT2B3_HUMAN
Tissue specificity: Highly expressed in the cerebellum, particulary in the presynaptic terminals of parallel fibers-Purkinje neurons. Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels in brain and fetal skeletal muscle. The other isoforms are only found at lower levels and not in fetal tissues.
genes like me logo Genes that share expressions with ATP2B3: view

In Situ Assay Products

Orthologs for ATP2B3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2B3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2B3 35
  • 90.38 (n)
  • 96.77 (a)
ATP2B3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2B3 35
  • 91.37 (n)
  • 97.05 (a)
ATP2B3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2b3 35
  • 89.1 (n)
  • 98.2 (a)
Atp2b3 16
Atp2b3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2B3 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2B3 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2b3 35
  • 87.47 (n)
  • 96.55 (a)
lizard
(Anolis carolinensis)
Reptilia ATP2B3 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2b3 35
  • 75.02 (n)
  • 87.38 (a)
zebrafish
(Danio rerio)
Actinopterygii atp2b3a 36
  • 79 (a)
OneToMany
atp2b3b 35
  • 76.04 (n)
  • 83.55 (a)
atp2b3b 36
  • 81 (a)
OneToMany
wufk54d07 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010638 35
  • 63.63 (n)
  • 62.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta PMCA 35
  • 59.24 (n)
  • 65.88 (a)
PMCA 36
  • 59 (a)
OneToMany
BEST:CK01140 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea mca-1 36
  • 51 (a)
ManyToMany
mca-2 36
  • 59 (a)
ManyToMany
mca-3 35
  • 60.21 (n)
  • 66.45 (a)
mca-3 36
  • 59 (a)
ManyToMany
mca-1 37
  • 54 (a)
R05C11.3 37
  • 58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 36
  • 35 (a)
OneToMany
PMC1 38
soybean
(Glycine max)
eudicotyledons Gma.1047 35
rice
(Oryza sativa)
Liliopsida Os03g0616400 35
  • 50.94 (n)
  • 45.07 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10263 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for ATP2B3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP2B3 Gene

ENSEMBL:
Gene Tree for ATP2B3 (if available)
TreeFam:
Gene Tree for ATP2B3 (if available)

Paralogs for ATP2B3 Gene

Paralogs for ATP2B3 Gene

Selected SIMAP similar genes for ATP2B3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ATP2B3: view

Variants for ATP2B3 Gene

Sequence variations from dbSNP and Humsavar for ATP2B3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs743643 -- 153,540,286(+) AGGCC(A/T)TGCAG intron-variant
rs743644 -- 153,541,170(-) TGCAC(A/G)TGGGA intron-variant
rs762733 -- 153,541,967(+) AGCTC(A/G)GCTCC intron-variant
rs916045 -- 153,548,085(+) GTGTA(A/G)AGCAG intron-variant
rs1894366 -- 153,524,729(+) CTGCT(C/G)TACCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2B3 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv2740632 CNV Deletion 23290073

Relevant External Links for ATP2B3 Gene

HapMap Linkage Disequilibrium report
ATP2B3
Human Gene Mutation Database (HGMD)
ATP2B3
Locus Specific Mutation Databases (LSDB)
ATP2B3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2B3 Gene

Disorders for ATP2B3 Gene

(1) OMIM Diseases for ATP2B3 Gene (300014)

UniProtKB/Swiss-Prot

AT2B3_HUMAN
  • Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. {ECO:0000269 PubMed:22912398}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP2B3

Genetic Association Database (GAD)
ATP2B3
Human Genome Epidemiology (HuGE) Navigator
ATP2B3
genes like me logo Genes that share disorders with ATP2B3: view

Publications for ATP2B3 Gene

  1. Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively. (PMID: 8187550) Wang M.G. … McBride O.W. (Cytogenet. Cell Genet. 1994) 2 3 4
  2. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X- linked congenital cerebellar ataxia impairs Ca2+ homeostasis. (PMID: 22912398) Zanni G. … Carafoli E. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 3 4
  3. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. (PMID: 19733838) RibasAcs M. … Cormand B. (Biol. Psychiatry 2009) 3 48
  4. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PMID: 7989379) Stauffer T.P. … Strehler E.E. (J. Biol. Chem. 1994) 3 4
  5. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PMID: 8245032) Stauffer T.P. … Strehler E.E. (J. Biol. Chem. 1993) 3 4

Products for ATP2B3 Gene

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Sources for ATP2B3 Gene

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