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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATP2A3-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 11986315, 15972967, 24213720
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11986315
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15972967, 24213720
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma CTD_human_DG 23913004
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 24213720
★☆☆☆☆
Found in Text Mining only
Adenoma, Basal Cell Adenoma CTD_human_DG 23913004
★☆☆☆☆
Found in Text Mining only
Adenoma, Microcystic Adenoma CTD_human_DG 23913004
★☆☆☆☆
Found in Text Mining only
Adenoma, Monomorphic Adenoma CTD_human_DG 23913004
★☆☆☆☆
Found in Text Mining only
Adenoma, Trabecular Adenoma CTD_human_DG 23913004
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 15972967
★☆☆☆☆
Found in Text Mining only