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Aliases for ATP2B3 Gene

Aliases for ATP2B3 Gene

  • ATPase, Ca++ Transporting, Plasma Membrane 3 2 3
  • Cilia And Flagella Associated Protein 39 2 3
  • EC 3.6.3.8 4 63
  • PMCA3 3 4
  • Plasma Membrane Calcium-Transporting ATPase 3 2
  • 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
  • SCAX1 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 x-linked progressive cerebellar ataxia and spinocerebellar ataxia, x-linked 1. Among its related pathways are CREB Pathway and Platelet homeostasis. GO annotations related to this gene include nucleotide 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

Chromosome:
X
Start:
153,517,665 bp from pter
End:
153,582,939 bp from pter
Size:
65,275 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP2B3 Gene

Antibody Products

Domains & Families for ATP2B3 Gene

Gene Families for ATP2B3 Gene

HGNC:
IUPHAR :

Suggested Antigen Peptide Sequences for ATP2B3 Gene

Graphical View of Domain Structure for InterPro Entry

Q16720

UniProtKB/Swiss-Prot:

AT2B3_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 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:0030165 PDZ domain binding IBA --
genes like me logo Genes that share ontologies with ATP2B3: view

Phenotypes for ATP2B3 Gene

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

Animal Model Products

CRISPR 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 Animal Models , Transcription Factor Targets 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 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:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with ATP2B3: view

Pathways & Interactions 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:0006874 cellular calcium ion homeostasis IBA --
GO:0007596 blood coagulation TAS --
GO:0008152 metabolic process IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP2B3: view

No data available for SIGNOR curated interactions for ATP2B3 Gene

Drugs & Compounds for ATP2B3 Gene

(3) Drugs for ATP2B3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Calcium Nutra 0
Magnesium Nutra 0

(3) Additional Compounds for ATP2B3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 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 ATP2B3: view

Transcripts for ATP2B3 Gene

Unigene Clusters for ATP2B3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing 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) (x6.6), Brain - Cerebellar Hemisphere (x5.8), Brain - Cerebellum (x5.7), Brain - Cortex (x5.6), and Brain - Anterior cingulate cortex (BA24) (x5.0).

Protein differential expression in normal tissues from HIPED for ATP2B3 Gene

This gene is overexpressed in Brain (29.9) and Frontal cortex (27.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP2B3: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for ATP2B3 Gene

Orthologs for ATP2B3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B3 Gene

Organism Taxonomy Gene Similarity Type Details
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
rat
(Rattus norvegicus)
Mammalia Atp2b3 35
  • 87.47 (n)
  • 96.55 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2B3 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2B3 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP2B3 36
  • 100 (a)
OneToOne
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 atp2b3b 35
  • 76.04 (n)
  • 83.55 (a)
wufk54d07 35
atp2b3a 36
  • 79 (a)
OneToMany
atp2b3b 36
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 37
  • 64 (a)
PMCA 35
  • 59.24 (n)
  • 65.88 (a)
PMCA 36
  • 59 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010638 35
  • 63.63 (n)
  • 62.48 (a)
worm
(Caenorhabditis elegans)
Secernentea mca-1 37
  • 54 (a)
R05C11.3 37
  • 58 (a)
mca-3 35
  • 60.21 (n)
  • 66.45 (a)
mca-1 36
  • 51 (a)
ManyToMany
mca-2 36
  • 59 (a)
ManyToMany
mca-3 36
  • 59 (a)
ManyToMany
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

(6) 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
rs762733 -- 153,541,967(+) AGCTC(A/G)GCTCC intron-variant
rs1894366 -- 153,524,729(+) CTGCT(C/G)TACCG intron-variant
rs2239682 -- 153,552,977(+) CCAGC(A/G)CTGTT intron-variant
rs2239683 -- 153,560,542(+) GGGCC(A/T)TGGCC intron-variant
rs2269406 -- 153,539,624(+) GAGCC(C/T)AGCTG 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

Variation tolerance for ATP2B3 Gene

Residual Variation Intolerance Score: 5.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP2B3 Gene

HapMap Linkage Disequilibrium report
ATP2B3
Human Gene Mutation Database (HGMD)
ATP2B3

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

Disorders for ATP2B3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATP2B3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
x-linked progressive cerebellar ataxia
spinocerebellar ataxia, x-linked 1
  • olivopontocerebellar atrophy x-linked
x-linked non progressive cerebellar ataxia
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
endocrine organ benign neoplasm
- elite association

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2B3
genes like me logo Genes that share disorders with ATP2B3: view

No data available for Genatlas for ATP2B3 Gene

Publications for ATP2B3 Gene

  1. 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 67
  2. Plasma membrane Ca2+-ATPase isoforms in frog crista ampullaris: identification of PMCA1 and PMCA2 specific splice variants. (PMID: 17336006) Polimeni M. … Gioglio L. (Hear. Res. 2007) 23 67
  3. 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 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for ATP2B3 Gene

Sources for ATP2B3 Gene

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