ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 492
Gene name ATPase plasma membrane Ca2+ transporting 3
Gene symbol ATP2B3
Synonyms (NCBI Gene)
CFAP39CLA2OPCAPMCA3PMCA3aSCAX1
Chromosome X
Chromosome location Xq28
Summary 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.
8
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.
54
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene SNPs Other IDs Associated diseases
Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005388 Function P-type calcium transporter activity IBA
GO:0005388 Function P-type calcium transporter activity IEA
GO:0005388 Function P-type calcium transporter activity TAS 8765088
GO:0005515 Function Protein binding IPI 18029012
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
300014 816 ENSG00000067842
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
62
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aldosterone-producing adrenal cortex adenoma Pathogenic rs724160009, rs724160011, rs724160012 RCV000149852
RCV000149854
RCV000149855
Arthrogryposis multiplex congenita Likely pathogenic rs1603040061 RCV000855493
Fetal akinesia deformation sequence 1 Likely pathogenic rs1603040061 RCV000855493
Spastic ataxia Likely pathogenic rs782756404 RCV001647254
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP2B3-related disorder Uncertain significance; Likely benign; Benign rs199524794, rs782565656, rs782282209, rs149106629, rs782212787, rs186232930, rs142541769, rs144995459, rs1364282837, rs782616045, rs1322254238, rs186942321, rs145661591, rs150989590, rs144855129
View all (4 more)		 RCV003936680
RCV003412021
RCV003894687
RCV003974716
RCV003893974
RCV003941802
RCV003934577
RCV003929468
RCV003937156
RCV003932022
RCV003971715
RCV003976688
RCV003966811
RCV003942670
RCV003943186
RCV003928469
RCV003895520
RCV003902849
RCV003903025
Neonatal hypotonia Uncertain significance rs1603090621 RCV000856694
Neurodevelopmental disorder Uncertain significance rs2090904365 RCV003389190
See cases Likely benign; Uncertain significance rs781860414, rs2521490190 RCV002252985
RCV003232950
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
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