Gene Gene information from NCBI Gene database.
Entrez ID 489
Gene name ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
Gene symbol ATP2A3
Synonyms (NCBI Gene)
SERCA3
Chromosome 17
Chromosome location 17p13.2
Summary This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to
miRNA miRNA information provided by mirtarbase database.
220
miRTarBase ID miRNA Experiments Reference
MIRT489870 hsa-miR-6760-5p PAR-CLIP 23592263
MIRT489869 hsa-miR-1321 PAR-CLIP 23592263
MIRT489868 hsa-miR-4739 PAR-CLIP 23592263
MIRT489867 hsa-miR-4756-5p PAR-CLIP 23592263
MIRT489865 hsa-miR-4270 PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 22851172
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005246 Function Calcium channel regulator activity IMP 18068335
GO:0005388 Function P-type calcium transporter activity IBA
GO:0005388 Function P-type calcium transporter activity IDA 9843705
GO:0005388 Function P-type calcium transporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601929 813 ENSG00000074370
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q93084
Protein name Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 (SERCA3) (SR Ca(2+)-ATPase 3) (EC 7.2.2.10) (Calcium pump 3)
Protein function This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in m
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00690 Cation_ATPase_N 4 72 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 121 329 Family
PF13246 Cation_ATPase 418 528 Family
PF00689 Cation_ATPase_C 784 987 Cation transporting ATPase, C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Found in most tissues. Most abundant in thymus, trachea, salivary gland, spleen, bone marrow, lymph node, peripheral leukocytes, pancreas and colon. Also detected in fetal tissues. Expressed in cell lineages of hematopoietic, epithelia
Sequence
MEAAHLLPAADVLRHFSVTAEGGLSPAQVTGARERYGPNELPSEEGKSLWELVLEQFEDL
LVRILLLAALVS
FVLAWFEEGEETTTAFVEPLVIMLILVANAIVGVWQERNAESAIEALK
EYEPEMGKVIRSDRKGVQRIRARDIVPGDIVEVAVGDKVPADLRLIEIKSTTLRVDQSIL
TGESVSVTKHTEAIPDPRAVNQDKKNMLFSGTNITSGKAVGVAVATGLHTELGKIRSQMA
AVEPERTPLQRKLDEFGRQLSHAISVICVAVWVINIGHFADPAHGGSWLRGAVYYFKIAV
ALAVAAIPEGLPAVITTCLALGTRRMARK
NAIVRSLPSVETLGCTSVICSDKTGTLTTNQ
MSVCRMFVVAEADAGSCLLHEFTISGTTYTPEGEVRQGDQPVRCGQFDGLVELATICALC
NDSALDYNEAKGVYEKVGEATETALTCLVEKMNVFDTDLQALSRVERAGACNTVIKQLMR
KEFTLEFSRDRKSMSVYCTPTRPHPTGQGSKMFVKGAPESVIERCSSV
RVGSRTAPLTPT
SREQILAKIRDWGSGSDTLRCLALATRDAPPRKEDMELDDCSKFVQYETDLTFVGCVGML
DPPRPEVAACITRCYQAGIRVVMITGDNKGTAVAICRRLGIFGDTEDVAGKAYTGREFDD
LSPEQQRQACRTARCFARVEPAHKSRIVENLQSFNEITAMTGDGVNDAPALKKAEIGIAM
GSGTAVAKSAAEMVLSDDNFASIVAAVEEGRAIYSNMKQFIRYLISSNVGEVVCIFLTAI
LGLPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMEKLPRSPREALISGWLFFRYLAI
GVYVGLATVAAATWWFVYDAEGPHINFYQLRNFLKCSEDNPLFAGIDCEVFESRFPTTMA
LSVLVTIEMCNALNSVSENQSLLRMPPWMNPWLLVAVAMSMALHFLILLVPPLPLIFQVT
PLSGRQWVVVLQISLPVILLDEALKYL
SRNHMHEEMSQK
Sequence length 999
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Efferocytosis
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Osteoclast differentiation
Thyroid hormone signaling pathway
Pancreatic secretion
Alzheimer disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Diabetic cardiomyopathy
  Reduction of cytosolic Ca++ levels
Ion homeostasis
Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
53
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs185342975 RCV005907390
ATP2A3-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity rs762087979, rs141235119, rs201977487, rs758641, rs143762354, rs55837933, rs3179783, rs887387, rs1800911, rs144329080, rs73330907, rs1062683, rs71366582, rs140787007, rs147054952
View all (34 more)
RCV003954153
RCV003931881
RCV003981673
RCV003974731
RCV003904152
RCV003974099
RCV003979668
RCV003979732
RCV003982465
RCV003916921
RCV003973970
RCV003982310
RCV003984483
RCV003911365
RCV003911499
RCV003909812
RCV003939849
RCV003944589
RCV003944603
RCV003959819
RCV003919556
RCV003914648
RCV003927179
RCV003941482
RCV003941696
RCV003931373
RCV003924436
RCV003958953
RCV003922116
RCV003922142
RCV003931963
RCV003932078
RCV003944616
RCV003972318
RCV003974765
RCV003981942
RCV003982116
RCV003963860
RCV003976680
RCV003978957
RCV003969158
RCV003962192
RCV003970252
RCV003903265
RCV003943005
RCV003916078
RCV003926205
RCV003943150
RCV003950568
RCV003905892
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23157274
Adenoma Inhibit 15972967
Adenomatous Polyposis Coli Associate 15972967
Airway Remodeling Associate 19541629
Alzheimer Disease Inhibit 21285369, 30822648
Alzheimer Disease Associate 28800327
Asthma Associate 19541629
Barrett Esophagus Associate 21829465
Breast Neoplasms Associate 34684111, 35133336
Burkitt Lymphoma Associate 19650915