Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
488
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP2A2
Synonyms (NCBI Gene) Gene synonyms aliases
ATP2B, DAR, DD, RHABDO2, SERCA2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DD
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cyt
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28929478 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121912731 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs121912732 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121912733 G>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121912734 T>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005137 hsa-miR-30a-5p pSILAC 18668040
MIRT021642 hsa-miR-142-3p Microarray 17612493
MIRT005137 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT028977 hsa-miR-26b-5p Microarray 19088304
MIRT032246 hsa-let-7b-5p Proteomics 18668040
Transcription factors
Transcription factor Regulation Reference
ATF6 Unknown 11595740
HAX1 Repression 18971376
PPARG Unknown 22240811
SP1 Activation 17597815
SP1 Unknown 14613864
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002026 Process Regulation of the force of heart contraction IEA
GO:0003009 Process Skeletal muscle contraction IEA
GO:0005388 Function Calcium transmembrane transporter activity, phosphorylative mechanism IBA 21873635
GO:0005388 Function Calcium transmembrane transporter activity, phosphorylative mechanism IDA 16402920
GO:0005509 Function Calcium ion binding IDA 16402920
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
108740 812 ENSG00000174437
Protein
UniProt ID P16615
Protein name Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) (SR Ca(2+)-ATPase 2) (EC 7.2.2.10) (Calcium pump 2) (Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase)
Protein function This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:12542527, PubMed:16402920). Involved in autophagy in response to starvation. U
PDB 5ZTF , 6JJU , 6LLE , 6LLY , 6LN5 , 6LN6 , 6LN7 , 6LN8 , 6LN9 , 7BT2 , 7E7S , 7W7T , 7W7U , 7W7V , 7W7W
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 418 527 Family
PF00689 Cation_ATPase_C 783 986 Cation transporting ATPase, C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at low
Sequence
MENAHTKTVEEVLGHFGVNESTGLSLEQVKKLKERWGSNELPAEEGKTLLELVIEQFEDL
LVRILLLAACIS
FVLAWFEEGEETITAFVEPFVILLILVANAIVGVWQERNAENAIEALK
EYEPEMGKVYRQDRKSVQRIKAKDIVPGDIVEIAVGDKVPADIRLTSIKSTTLRVDQSIL
TGESVSVIKHTDPVPDPRAVNQDKKNMLFSGTNIAAGKAMGVVVATGVNTEIGKIRDEMV
ATEQERTPLQQKLDEFGEQLSKVISLICIAVWIINIGHFNDPVHGGSWIRGAIYYFKIAV
ALAVAAIPEGLPAVITTCLALGTRRMAKK
NAIVRSLPSVETLGCTSVICSDKTGTLTTNQ
MSVCRMFILDRVEGDTCSLNEFTITGSTYAPIGEVHKDDKPVNCHQYDGLVELATICALC
NDSALDYNEAKGVYEKVGEATETALTCLVEKMNVFDTELKGLSKIERANACNSVIKQLMK
KEFTLEFSRDRKSMSVYCTPNKPSRTSMSKMFVKGAPEGVIDRCTHI
RVGSTKVPMTSGV
KQKIMSVIREWGSGSDTLRCLALATHDNPLRREEMHLEDSANFIKYETNLTFVGCVGMLD
PPRIEVASSVKLCRQAGIRVIMITGDNKGTAVAICRRIGIFGQDEDVTSKAFTGREFDEL
NPSAQRDACLNARCFARVEPSHKSKIVEFLQSFDEITAMTGDGVNDAPALKKAEIGIAMG
SGTAVAKTASEMVLADDNFSTIVAAVEEGRAIYNNMKQFIRYLISSNVGEVVCIFLTAAL
GFPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMNKPPRNPKEPLISGWLFFRYLAIG
CYVGAATVGAAAWWFIAADGGPRVSFYQLSHFLQCKEDNPDFEGVDCAIFESPYPMTMAL
SVLVTIEMCNALNSLSENQSLLRMPPWENIWLVGSICLSMSLHFLILYVEPLPLIFQITP
LNVTQWLMVLKISLPVILMDETLKFV
ARNYLEPGKECVQPATKSCSFSACTDGISWPFVL
LIMPLVIWVYSTDTNFSDMFWS
Sequence length 1042
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Acrokeratosis verruciforms Acrokeratosis Verruciformis of Hopf, Acrokeratosis verruciformis of Hopf rs121912737, rs387906594 12542527, 16733453, 20338123
Darier disease Darier Disease, Acral Hemorrhagic Type, Darier Disease, Segmental, Darier disease rs121912732, rs121912733, rs121912735, rs121912736
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
16123366
Keratosis follicularis Keratosis Follicularis rs28929478, rs121912731, rs1592839705, rs121912732, rs121912734, rs2137673961, rs1566240208, rs121912738, rs1592864859 23356892, 19995371, 10441325, 10441323, 20338123, 22909361, 10441324, 20456342, 28035777, 23621824, 10080178, 16733453
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure 19776660 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided, Chronic heart failure 19776660 ClinVar
Major affective disorder MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9 ClinVar
Mental depression Mental Depression, Depressive disorder 15169625, 11377748 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Acromegaly Associate 36435867
Adenoma Associate 34744521
Asthma Inhibit 19541629
Asthma Associate 36685580
Atrial Fibrillation Inhibit 21179275
Atrichia with Papular Lesions Associate 26154588
Bipolar Disorder Associate 27106560
Breast Neoplasms Associate 35133336
CADASIL Associate 37978298
Cardiomyopathy Dilated Inhibit 20388650