ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
492
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase plasma membrane Ca2+ transporting 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP2B3
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCAX1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs150989590 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, non coding transcript variant, coding sequence variant
rs368215361 C>G,T Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs397514619 G>A Likely-pathogenic, pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs724160009 GCTGGT>- Pathogenic Non coding transcript variant, inframe deletion, coding sequence variant
rs724160011 CTGGTC>- Pathogenic Non coding transcript variant, inframe deletion, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(54)
miRTarBase ID miRNA Experiments Reference
MIRT645896 hsa-miR-5193 HITS-CLIP 23824327
MIRT645897 hsa-miR-660-3p HITS-CLIP 23824327
MIRT645895 hsa-miR-877-3p HITS-CLIP 23824327
MIRT645894 hsa-miR-1236-3p HITS-CLIP 23824327
MIRT645893 hsa-miR-3909 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0005388 Function Calcium transmembrane transporter activity, phosphorylative mechanism IBA 21873635
GO:0005515 Function Protein binding IPI 18029012
GO:0005516 Function Calmodulin binding IEA
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IDA 18029012
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
300014 816 ENSG00000067842
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q16720
Protein name Plasma membrane calcium-transporting ATPase 3 (PMCA3) (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 3) (Plasma membrane calcium pump isoform 3)
Protein function ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals (PubMed:18029012, PubMed:22912398, PubMed:25953895, PubMed:27035656). Uses ATP as an energy source to transport cytosolic Ca
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00690 Cation_ATPase_N 51 → 121 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 190 → 306 Family
PF00122 E1-E2_ATPase 341 → 451 Family
PF13246 Cation_ATPase 516 → 612 Family
PF00689 Cation_ATPase_C 876 → 1058 Cation transporting ATPase, C-terminus Family
PF12424 ATP_Ca_trans_C 1100 → 1146 Plasma membrane calcium transporter ATPase C terminal Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the cerebellum (PubMed:8187550). Expressed in adrenal glands (PubMed:27035656). {ECO:0000269|PubMed:27035656, ECO:0000269|PubMed:8187550}.
Sequence 
MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLC
RRLKTSPTEGLADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWEALQDVTLIILEVAAIV
SLGLSFYAPPGEESEACGNVSGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEK
QFRGLQSRIEQEQKFTVIRNGQLLQVPVAALVVGDIAQVKYGDLLPADGVLIQANDLKID
ESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEE
KKDKKGKQQDGAMESSQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKANAPKKEKSVL
QGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFII
GVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTT
NRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAISINSAYTTKILPPEKEGALPRQVG
NKTECALLGFVLDLKRDFQPVREQIPEDKLYKVYTFNSVRKSMSTVIRMPDGGFRLFSKG
ASEILLKKCTNILNSNGELRGFRPRDRDDMVRKIIEPMACDGLRTICIAYRDFSAGQEPD
WDNENEVVGDLTCIAVVGIEDPVRPEVPEAIRKCQRAGITVRMVTGDNINTARAIAAKCG
IIQPGEDFLCLEGKEFNRRIRNEKGEIEQERLDKVWPKLRVLARSSPTDKHTLVKGIIDS
TTGEQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDIILTDDNFTSIVKAVM
WGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTFASLALA
TEPPTESLLLRKPYGRDKPLISRTMMKNILGHAVYQLAIIFTLLFVGELFFDIDSGRNAP
LHSPPSEHYTIIFNTFVMMQLFNEINARKIHGERNVFDGIFSNPIFCTIVLGTFGIQIVI
VQFGGKPFSCSPLSTEQWLWCLFVGVGELVWGQVIATIPTSQLKCLKEAGHGPGKDEMTD
EELAEGEEEIDHAERELRRGQILWFRGLNRIQTQIRVVKAFRSSLYEGLEKPESKTSIHN
FMATPEFLINDYTHNIPLIDDTDVDENEERLRAPPPPSPNQNNNAIDSGIYLTTHVTKSA
TSSVFSSSPGSPLHSVETSL
Sequence length 1220
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Cerebellar Ataxia, X-Linked X-linked non progressive cerebellar ataxia GenCC
Show/Hide Text Mining Associations (19)
Associations from Text Mining
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 26743443
Adenoma Associate 31000732
Adrenocortical Adenoma Associate 31789380
Aphasia Broca Associate 28807751
Ataxia Associate 27632770, 28807751, 36207321
Cerebellar Ataxia Associate 22912398, 25953895, 27632770, 28807751, 36207321
Congenital disorder of glycosylation type 1A Associate 28807751
Cushing Syndrome Associate 26743443
Developmental Disabilities Associate 25953895
Fetal akinesia syndrome X linked Associate 31680123