Gene Gene information from NCBI Gene database.
Entrez ID 488
Gene name ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Gene symbol ATP2A2
Synonyms (NCBI Gene)
ATP2BDARDDRHABDO2SERCA2
Chromosome 12
Chromosome location 12q24.11
Summary 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.
29
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.
884
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 factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
ATF6 Unknown 11595740
HAX1 Repression 18971376
PPARG Unknown 22240811
SP1 Activation 17597815
SP1 Unknown 14613864
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
89
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000166 Function Nucleotide binding IEA
GO:0002026 Process Regulation of the force of heart contraction IEA
GO:0003012 Process Muscle system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
108740 812 ENSG00000174437
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
171
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acrokeratosis verruciformis of Hopf Pathogenic rs121912737, rs387906594 RCV000019377
RCV000022449
ATP2A2-related disorder Pathogenic; Likely pathogenic rs2137870396, rs2548561116, rs2548563297 RCV004753391
RCV003402163
RCV003949511
Darier disease, acral hemorrhagic type Likely pathogenic; Pathogenic rs121912732, rs121912733 RCV000019370
RCV000019371
Darier disease, segmental Pathogenic rs121912735, rs121912736 RCV000019375
RCV000019376
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs112499287 RCV005893064
Cervical cancer Conflicting classifications of pathogenicity; Benign rs199776454, rs112499287 RCV005911199
RCV005893066
Gastric cancer Benign rs138711897 RCV005893063
Lung cancer Benign rs117494432 RCV005926387
Associations from Text MiningDisease associations identified through Pubtator
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