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 ATP2B3 Gene

Aliases for ATP2B3 Gene

  • ATPase Plasma Membrane Ca2+ Transporting 3 2 3 5
  • Plasma Membrane Calcium-Transporting ATPase 3 2 3 4
  • PMCA3 2 3 4
  • ATPase, Ca++ Transporting, Plasma Membrane 3 2 3
  • Cilia And Flagella Associated Protein 39 2 3
  • CFAP39 2 3
  • 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 7.2.2.10 4
  • EC 3.6.3.8 51
  • EC 3.6.3 51
  • PMCA3a 3
  • ATP2B3 5
  • SCAX1 3
  • CLA2 3
  • OPCA 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 Plasma Membrane Ca2+ Transporting 3) is a Protein Coding gene. Diseases associated with ATP2B3 include Spinocerebellar Ataxia, X-Linked 1 and Muscular Atrophy. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include nucleotide binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2B2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2B3 Gene

Genomics for ATP2B3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP2B3 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
GH0XJ153517 Promoter 0.6 Ensembl 600.7 +0.3 324 0.8 POLR2A EZH2 HIC1 ZNF398 ATP2B3 lnc-DUSP9-3 CCNQ
GH0XJ153900 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 10.2 +385.2 385230 5 HNRNPL PRDM10 IKZF1 ZNF143 RELA ZIC2 ZNF776 ZSCAN4 PATZ1 TCF12 AVPR2 HCFC1 SNORA70 DKC1 PLXNA3 TMEM187 SNORA56 EMD ENSG00000260081 SLC10A3
GH0XJ153673 Promoter 1.2 EPDnew Ensembl 10.2 +155.6 155625 1.4 KDM1A MTA2 ZIC2 ZSCAN4 PATZ1 ZNF341 CTCF EGR1 NCOR1 ZNF623 PNCK lnc-BCAP31-3 ENSG00000260081 GDI1 PDZD4 ATP2B3 L1CAM RF00017-8800 RN7SL687P lnc-DUSP9-2
GH0XJ153511 Enhancer 0.8 Ensembl 10.6 -5.5 -5475 0.8 ZNF692 ZNF300 PRDM1 ZIC2 ZSCAN4 ZNF747 ZNF148 MNT ZNF512B ZNF248 PLXNA3 HCFC1 ENSG00000260081 SNORA70 GDI1 MECP2 ATP2B3 PDZD4 L1CAM NONHSAG055547.2
GH0XJ153621 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +107.7 107650 7.1 HNRNPL GATAD2A TFE3 SOX13 RBFOX2 ZNF24 RXRB IRF2 SP1 CEBPA lnc-CCNQ-1 SNORA70 DUSP9 TMEM187 HCFC1 SLC10A3 EMD ZNF185 ABCD1 PDZD4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP2B3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2B3

Top Transcription factor binding sites by QIAGEN in the ATP2B3 gene promoter:
  • E47
  • FAC1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • MRF-2
  • Pax-4a
  • RORalpha1
  • Tal-1

Genomic Locations for ATP2B3 Gene

Genomic Locations for ATP2B3 Gene
chrX:153,517,676-153,582,939
(GRCh38/hg38)
Size:
65,264 bases
Orientation:
Plus strand
chrX:152,783,134-152,848,397
(GRCh37/hg19)
Size:
65,264 bases
Orientation:
Plus strand

Genomic View for ATP2B3 Gene

Genes around ATP2B3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for ATP2B3 Gene

Q16720:
  • LLSGTHVMEGSGRMVVTAVG
  • IPLIDDTD
  • VTAVGVNS
  • SSLTGES
  • DKTGTLTTN
  • IFCTIVLGTF
  • FDIDSGR
  • WLAECTP
  • VRMVTGDNINTA
  • DKDPMLLSGTHVMEGSGRM
  • QILWFRGLNRIQTQ
  • VTISLAYSV
  • KDNNLVRHL
  • LWVNLIMDT
  • LYKVYTF
  • LAVQIGKAGL
  • MQLFNEINARKIHGERNVF
  • EASDIIL
  • LALATEPPT
  • DKTGTLT
  • PGEDFLCLEGK
  • VTAFNDWSKEKQFRGLQSRIE
  • APLHSPPS
  • KILPPEKEG
  • LRVLARSSPTDKHTLVKGIIDS
  • QFQLTVN
  • AGITVRMVTG
  • QYFVKFFIIG
  • GWIEGAAIL
  • PGSPLHS
  • IRNEKGE
  • VGDIAQVKYGDLLPADG
  • GTDVAKEA
  • VGNKTEC
  • AFRSSLYEGLEKPE
  • IDSGRNAPLH
  • NINTARAIA
  • NSQTGIIFTLLGA
  • NRMTVVQ
  • VTGDGTND
  • IEPMACDGLRTIC
  • TIIFNTFV
  • KCQRAGITV
  • AAIVSLGLSFY
  • VWEALQD
  • MSAITVIILVLYF
  • GVTVLVV
  • EPDWDNEN
  • MEMQPLKS
  • RIEQEQKF
  • SVRKSMSTV
  • KPLISRTMMKNILGHAVYQL
  • DESSLTGE
  • IVQFGGKPFSCS
  • VVGIEDPVRPEVP
  • HAERELRR
  • AVPEGLPL

Post-translational modifications for ATP2B3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Boster Bio Antibodies for ATP2B3

Domains & Families for ATP2B3 Gene

Gene Families for ATP2B3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ATP2B3 Gene

GenScript: Design optimal peptide antigens:
  • ATP2B3 protein (A1L3B5_HUMAN)
  • PMCA3a (A1X4Q0_HUMAN)
  • Plasma membrane calcium pump isoform 3 (AT2B3_HUMAN)

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

UniProtKB/Swiss-Prot Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
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;.
GENATLAS Biochemistry:
ATPase,Ca++ transporting,B3 plasma membrane,mediating the extrusion of CA2+ from the cell

Enzyme Numbers (IUBMB) for ATP2B3 Gene

Phenotypes From GWAS Catalog for ATP2B3 Gene

Gene Ontology (GO) - Molecular Function for ATP2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005388 calcium-transporting ATPase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 18029012
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATP2B3: view
genes like me logo Genes that share phenotypes with ATP2B3: view

Human Phenotype Ontology for ATP2B3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP2B3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B3

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
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 ATP2B3 gene
Compartment Confidence
plasma membrane 5
extracellular 4
golgi apparatus 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with ATP2B3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP2B3 Gene

Pathways & Interactions for ATP2B3 Gene

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

Pathways by source for ATP2B3 Gene

Gene Ontology (GO) - Biological Process for ATP2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA 21873635
GO:0034220 ion transmembrane transport TAS --
GO:0051480 regulation of cytosolic calcium ion concentration IDA 18029012
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

(6) Drugs for ATP2B3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma Target, inhibitor 209
Halothane Approved, Vet_approved Pharma Activator, Inhibitor, Target, inhibitor 3
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ATP2B3: view

Transcripts for ATP2B3 Gene

mRNA/cDNA for ATP2B3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B3

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

Expression for ATP2B3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ATP2B3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP2B3

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.

Evidence on tissue expression from TISSUES for ATP2B3 Gene

  • Nervous system(4.9)
  • Adrenal gland(2.9)
  • Blood(2.2)
  • Eye(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2B3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ATP2B3: view

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
Chimpanzee
(Pan troglodytes)
Mammalia ATP2B3 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP2B3 30 31
  • 91.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP2B3 30 31
  • 90.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp2b3 30 17 31
  • 89.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP2B3 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp2b3 30
  • 87.47 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATP2B3 31
  • 84 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP2B3 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp2b3 30
  • 75.02 (n)
Zebrafish
(Danio rerio)
Actinopterygii atp2b3a 31
  • 79 (a)
OneToMany
atp2b3b 30 31
  • 76.04 (n)
OneToMany
wufk54d07 30
Fruit Fly
(Drosophila melanogaster)
Insecta BEST:CK01140 32
  • 64 (a)
PMCA 30 31
  • 59.24 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010638 30
  • 63.63 (n)
Worm
(Caenorhabditis elegans)
Secernentea mca-3 30 31
  • 60.21 (n)
ManyToMany
mca-2 31
  • 59 (a)
ManyToMany
R05C11.3 32
  • 58 (a)
mca-1 31 32
  • 51 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 31 33
  • 35 (a)
OneToMany
Soybean
(Glycine max)
eudicotyledons Gma.1047 30
Rice
(Oryza sativa)
Liliopsida Os03g0616400 30
  • 50.94 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.10263 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 65 (a)
OneToMany
Species where no ortholog for ATP2B3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP2B3: view image

Paralogs for ATP2B3 Gene

(6) SIMAP similar genes for ATP2B3 Gene using alignment to 3 proteins:

  • AT2B3_HUMAN
  • A1L3B5_HUMAN
  • A1X4Q0_HUMAN
genes like me logo Genes that share paralogs with ATP2B3: view

Variants for ATP2B3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2B3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
638365 Uncertain Significance: Spinocerebellar ataxia, X-linked 1 153,565,045(+) G/A MISSENSE_VARIANT
643469 Uncertain Significance: not provided 153,547,942(+) G/C MISSENSE_VARIANT
692299 Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita 153,536,444(+) C/T MISSENSE_VARIANT
694647 Uncertain Significance: Neonatal hypotonia 153,556,406(+) A/G MISSENSE_VARIANT
708292 Benign: not provided 153,580,106(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for ATP2B3 Gene

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

Variant ID Type Subtype PubMed ID
esv2740632 CNV deletion 23290073
esv33199 CNV gain+loss 17666407
esv3559497 CNV deletion 23714750
esv3575024 CNV loss 25503493

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)

Additional Variant Information for ATP2B3 Gene

Human Gene Mutation Database (HGMD)
ATP2B3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2B3

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

Disorders for ATP2B3 Gene

MalaCards: The human disease database

(27) MalaCards diseases for ATP2B3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for ATP2B3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3 4
  2. 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 MG … McBride OW (Cytogenetics and cell genetics 1994) 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) Ribasés M … Cormand B (Biological psychiatry 2009) 3 41
  4. Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. (PMID: 10854409) Mallon AM … Brown SD (Genome research 2000) 3 4
  5. Primary structure of human plasma membrane Ca(2+)-ATPase isoform 3. (PMID: 8765088) Brown BJ … Strehler EE (Biochimica et biophysica acta 1996) 3 4

Products for ATP2B3 Gene

Sources for ATP2B3 Gene