ATP2C2 (ATPase secretory pathway Ca2+ transporting 2)

Gene

• Entrez ID: 9914
• Gene name: ATPase secretory pathway Ca2+ transporting 2
• Gene symbol: ATP2C2
• Synonyms: SPCA2
• Chromosome: 16
• Chromosome location: 16q24.1

SNPs

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

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
MIRT2384623	hsa-miR-3074-5p	CLIP-seq
MIRT2384624	hsa-miR-3124-3p	CLIP-seq
MIRT2384625	hsa-miR-3685	CLIP-seq
MIRT2384626	hsa-miR-384	CLIP-seq
MIRT2384627	hsa-miR-4660	CLIP-seq
MIRT2384628	hsa-miR-5047	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA	21873635
GO:0000139	Component	Golgi membrane	TAS
GO:0005388	Function	Calcium transmembrane transporter activity, phosphorylative mechanism	IBA	21873635
GO:0005515	Function	Protein binding	IPI	20887894
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006828	Process	Manganese ion transport	IBA	21873635
GO:0006874	Process	Cellular calcium ion homeostasis	IBA	21873635
GO:0008553	Function	Proton-exporting ATPase activity, phosphorylative mechanism	IBA	21873635
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0015410	Function	Manganese transmembrane transporter activity, phosphorylative mechanism	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IBA	21873635
GO:0071421	Process	Manganese ion transmembrane transport	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090280	Process	Positive regulation of calcium ion import	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 613082
• HGNC: 29103
• e!Ensembl: ENSG00000064270

Protein

• 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

• Sequence:

  MVEGRVSEFLKKLGFSGGGRQYQALEKDEEEALIDEQSELKAIEKEKKVTALPPKEACKC
  QKEDLARAFCVDLHTGLSEFSVTQRRLAHGWNEFVADNSEPVWKKYLDQFKNPLILLLLG
  SALVSVLTKEYEDAVSIATAVLVVVTVAFIQEYRSEKSLEELTKLVPPECNCLREGKLQH
  LLARELVPGDVVSLSIGDRIPADIRLTEVTDLLVDESSFTGEAEPCSKTDSPLTGGGDLT
  TLSNIVFMGTLVQYGRGQGVVIGTGESSQFGEVFKMMQAEETPKTPLQKSMDRLGKQLTL
  FSFGIIGLIMLIGWSQGKQLLSMFTIGVSLAVAAIPEGLPIVVMVTLVLGVLRMAKKRVI
  VKKLPIVETLGCCSVLCSDKTGTLTANEMTVTQLVTSDGLRAEVSGVGYDGQGTVCLLPS
  KEVIKEFSNVSVGKLVEAGCVANNAVIRKNAVMGQPTEGALMALAMKMDLSDIKNSYIRK
  KEIPFSSEQKWMAVKCSLKTEDQEDIYFMKGALEEVIRYCTMYNNGGIPLPLTPQQRSFC
  LQEEKRMGSLGLRVLALASGPELGRLTFLGLVGIIDPPRVGVKEAVQVLSESGVSVKMIT
  GDALETALAIGRNIGLCNGKLQAMSGEEVDSVEKGELADRVGKVSVFFRTSPKHKLKIIK
  ALQESGAIVAMTGDGVNDAVALKSADIGIAMGQTGTDVSKEAANMILVDDDFSAIMNAVE
  EGKGIFYNIKNFVRFQLSTSISALSLITLSTVFNLPSPLNAMQILWINIIMDGPPAQSLG
  VEPVDKDAFRQPPRSVRDTILSRALILKILMSAAIIISGTLFIFWKEMPEDRASTPRTTT
  MTFTCFVFFDLFNALTCRSQTKLIFEIGFLRNHMFLYSVLGSILGQLAVIYIPPLQRVFQ
  TENLGALDLLFLTGLASSVFILSELLKLCEKYCCSPKRVQMHPEDV

• Sequence length: 946

Pathways

Reactome:

Ion transport by P-type ATPases

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019	18839057
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	23144326
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959