ATP2C2 (ATPase secretory pathway Ca2+ transporting 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9914
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase secretory pathway Ca2+ transporting 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP2C2
Synonyms (NCBI Gene) Gene synonyms aliases
SPCA2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.1
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs78887288 G>A Conflicting-interpretations-of-pathogenicity Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT807906 hsa-miR-2114 CLIP-seq
MIRT807907 hsa-miR-548n CLIP-seq
MIRT807908 hsa-miR-548t CLIP-seq
MIRT2384621 hsa-miR-1184 CLIP-seq
MIRT2384622 hsa-miR-1301 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0005388 Function P-type calcium transporter activity IBA
GO:0005388 Function P-type calcium transporter activity IDA 15677451, 15831496
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613082 29103 ENSG00000064270
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75185
Protein name Calcium-transporting ATPase type 2C member 2 (ATPase 2C2) (EC 7.2.2.10) (Ca(2+)/Mn(2+)-ATPase 2C2) (Secretory pathway Ca(2+)-transporting ATPase type 2) (SPCA2)
Protein function ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:15677451, PubMed:15831496, PubMed:16332677, Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00690 Cation_ATPase_N 58 → 125 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 164 → 357 Family
PF00702 Hydrolase 373 → 686 Domain
PF00689 Cation_ATPase_C 756 → 929 Cation transporting ATPase, C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the gastrointestinal and respiratory tracts, prostate, thyroid, salivary, and mammary glands (PubMed:15831496). Expressed in colon epithelial cells (at protein level). Expressed in brain and testis (at protein level
Sequence 
MVEGRVSEFLKKLGFSGGGRQYQALEKDEEEALIDEQSELKAIEKEKKVTALPPKEACKC
QKEDLARAFCVDLHTGLSEFSVTQRRLAHGWNEFVADNSEPVWKKYLDQFKNPLILLLLG
SALVSVLTKEYEDAVSIATAVLVVVTVAFIQEYRSEKSLEELTKLVPPECNCLREGKLQH
LLARELVPGDVVSLSIGDRIPADIRLTEVTDLLVDESSFTGEAEPCSKTDSPLTGGGDLT
TLSNIVFMGTLVQYGRGQGVVIGTGESSQFGEVFKMMQAEETPKTPLQKSMDRLGKQLTL
FSFGIIGLIMLIGWSQGKQLLSMFTIGVSLAVAAIPEGLPIVVMVTLVLGVLRMAKKRVI
VKKLPIVETLGCCSVLCSDKTGTLTANEMTVTQLVTSDGLRAEVSGVGYDGQGTVCLLPS
KEVIKEFSNVSVGKLVEAGCVANNAVIRKNAVMGQPTEGALMALAMKMDLSDIKNSYIRK
KEIPFSSEQKWMAVKCSLKTEDQEDIYFMKGALEEVIRYCTMYNNGGIPLPLTPQQRSFC
LQEEKRMGSLGLRVLALASGPELGRLTFLGLVGIIDPPRVGVKEAVQVLSESGVSVKMIT
GDALETALAIGRNIGLCNGKLQAMSGEEVDSVEKGELADRVGKVSVFFRTSPKHKLKIIK
ALQESGAIVAMTGDGVNDAVALKSADIGIAMGQTGTDVSKEAANMILVDDDFSAIMNAVE
EGKGIFYNIKNFVRFQLSTSISALSLITLSTVFNLPSPLNAMQILWINIIMDGPPAQSLG
VEPVDKDAFRQPPRSVRDTILSRALILKILMSAAIIISGTLFIFWKEMPEDRASTPRTTT
MTFTCFVFFDLFNALTCRSQTKLIFEIGFLRNHMFLYSVLGSILGQLAVIYIPPLQRVFQ
TENLGALDLLFLTGLASSVFILSELLKLCEKYCCSPKRVQMHPEDV
Sequence length 946
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Ion transport by P-type ATPases
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 30718673, 30923126, 31783287, 33936088, 35063802
Calcinosis Stimulate 28618103
Dyslexia Associate 29201552, 33864365
Endometrial Neoplasms Associate 36899615
Language Disorders Associate 19646677, 33864365
Neoplasms Associate 33936088, 35063802
Neurotoxicity Syndromes Associate 15677451
Parkinson Disease Secondary Associate 15677451
Pemphigus Benign Familial Associate 15677451, 30923126
Specific Language Disorder Associate 19646677