Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9914
Gene name	ATPase secretory pathway Ca2+ transporting 2
Gene symbol	ATP2C2
Synonyms (NCBI Gene)	SPCA2
Chromosome	16
Chromosome location	16q24.1

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

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
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

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
GO:0005388	Function	P-type calcium transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	20887894
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006828	Process	Manganese ion transport	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	ISS
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
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:0140613	Function	P-type manganese transporter activity	IDA	15831496
GO:0140613	Function	P-type manganese transporter activity	IEA

MIM	HGNC	e!Ensembl
613082	29103	ENSG00000064270

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

	Reactome
			Ion transport by P-type ATPases

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ATP2C2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs72806651, rs141229929, rs375031013, rs759660872, rs1247909506, rs369706039, rs567039122, rs187525642, rs374219008, rs115593981, rs1360307297, rs545270710, rs3743651, rs377016980, rs377216368 View all (30 more)	RCV003976150 RCV003929076 RCV003929247 RCV003909295 RCV003907075 RCV003907130 RCV003924011 RCV003929588 RCV003929669 RCV003964686 RCV003893720 RCV003964513 RCV003979701 RCV003917031 RCV003941962 RCV003952205 RCV003959573 RCV003964137 RCV003927044 RCV003934454 RCV003951813 RCV003949642 RCV003924410 RCV003959163 RCV003969237 RCV003922017 RCV003924219 RCV003926800 RCV003934218 RCV003942192 RCV003954428 RCV003954435 RCV003979011 RCV003976595 RCV003962902 RCV003953338 RCV003926204 RCV003940575 RCV003940685 RCV003902886 RCV003942831 RCV003923267 RCV003903074 RCV003906027 RCV003970827
Cervical cancer	Benign	rs180820787	RCV005906538
Clear cell carcinoma of kidney	Benign	rs180820787	RCV005906539
Colon adenocarcinoma	Likely benign	rs138818397	RCV005933380
Colorectal cancer	Benign	rs4782970	RCV005908814
Familial cancer of breast	Benign	rs4782970	RCV005908812
Lung cancer	Benign	rs4782970	RCV005908818
Malignant tumor of esophagus	Benign	rs180820787, rs4782970	RCV005906537 RCV005908813
Malignant tumor of urinary bladder	Likely benign	rs200192229	RCV005938807
Ovarian serous cystadenocarcinoma	Benign	rs4782970	RCV005908815
Sarcoma	Likely benign	rs374918518	RCV005903010
Thymoma	Benign	rs4782970	RCV005908816
Thyroid cancer, nonmedullary, 1	Benign	rs4782970	RCV005908817
Uterine corpus endometrial carcinoma	Benign	rs4782970	RCV005908819

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Thyroid Neoplasms	Associate	32849296

ATP2C2 (ATPase secretory pathway Ca2+ transporting 2)