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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	491
Gene name	ATPase plasma membrane Ca2+ transporting 2
Gene symbol	ATP2B2
Synonyms (NCBI Gene)	DFNA82PMCA2PMCA2aPMCA2i
Chromosome	3
Chromosome location	3p25.3
Summary	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736451	C>A,T	Risk-factor, benign	Coding sequence variant, missense variant
rs1064795322	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1575005369	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575009907	C>T	Likely-pathogenic	Splice acceptor variant

101

Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT735139	hsa-miR-15b-5p	MicroarrayqRT-PCRFlow cytometry	32661467
MIRT807625	hsa-miR-1224-3p	CLIP-seq
MIRT807626	hsa-miR-1260	CLIP-seq
MIRT807627	hsa-miR-1260b	CLIP-seq
MIRT807628	hsa-miR-1280	CLIP-seq
MIRT807629	hsa-miR-3617	CLIP-seq
MIRT807630	hsa-miR-641	CLIP-seq
MIRT807631	hsa-miR-101	CLIP-seq
MIRT807632	hsa-miR-1231	CLIP-seq
MIRT807633	hsa-miR-1245b-3p	CLIP-seq
MIRT807634	hsa-miR-1253	CLIP-seq
MIRT807635	hsa-miR-138	CLIP-seq
MIRT807636	hsa-miR-144	CLIP-seq
MIRT807637	hsa-miR-181a	CLIP-seq
MIRT807638	hsa-miR-181b	CLIP-seq
MIRT807639	hsa-miR-181c	CLIP-seq
MIRT807640	hsa-miR-181d	CLIP-seq
MIRT807641	hsa-miR-3074-5p	CLIP-seq
MIRT807642	hsa-miR-3154	CLIP-seq
MIRT807643	hsa-miR-3177-5p	CLIP-seq
MIRT807644	hsa-miR-345	CLIP-seq
MIRT807645	hsa-miR-3652	CLIP-seq
MIRT807646	hsa-miR-370	CLIP-seq
MIRT807647	hsa-miR-3919	CLIP-seq
MIRT807648	hsa-miR-4251	CLIP-seq
MIRT807649	hsa-miR-4262	CLIP-seq
MIRT807650	hsa-miR-4278	CLIP-seq
MIRT807651	hsa-miR-4288	CLIP-seq
MIRT807652	hsa-miR-4430	CLIP-seq
MIRT807653	hsa-miR-4505	CLIP-seq
MIRT807654	hsa-miR-4656	CLIP-seq
MIRT807655	hsa-miR-4659a-3p	CLIP-seq
MIRT807656	hsa-miR-4659b-3p	CLIP-seq
MIRT807657	hsa-miR-4716-3p	CLIP-seq
MIRT807658	hsa-miR-4778-3p	CLIP-seq
MIRT807659	hsa-miR-499a-5p	CLIP-seq
MIRT807660	hsa-miR-548q	CLIP-seq
MIRT807661	hsa-miR-617	CLIP-seq
MIRT807662	hsa-miR-632	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT1545612	hsa-miR-887	CLIP-seq
MIRT1545613	hsa-miR-938	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT1545612	hsa-miR-887	CLIP-seq
MIRT1545613	hsa-miR-938	CLIP-seq
MIRT1921875	hsa-miR-1254	CLIP-seq
MIRT1921876	hsa-miR-3116	CLIP-seq
MIRT1921877	hsa-miR-378g	CLIP-seq
MIRT1921878	hsa-miR-4492	CLIP-seq
MIRT1921879	hsa-miR-4498	CLIP-seq
MIRT807653	hsa-miR-4505	CLIP-seq
MIRT1921880	hsa-miR-762	CLIP-seq
MIRT807663	hsa-miR-642a	CLIP-seq
MIRT1545613	hsa-miR-938	CLIP-seq
MIRT2177838	hsa-miR-1238	CLIP-seq
MIRT2177839	hsa-miR-1290	CLIP-seq
MIRT2177840	hsa-miR-139-5p	CLIP-seq
MIRT2177841	hsa-miR-3122	CLIP-seq
MIRT2177842	hsa-miR-3183	CLIP-seq
MIRT2177843	hsa-miR-3913-5p	CLIP-seq
MIRT2177844	hsa-miR-4723-3p	CLIP-seq
MIRT2177845	hsa-miR-659	CLIP-seq
MIRT2384613	hsa-miR-1261	CLIP-seq
MIRT2384614	hsa-miR-3121-3p	CLIP-seq
MIRT2384615	hsa-miR-3681	CLIP-seq
MIRT2384616	hsa-miR-4330	CLIP-seq
MIRT2384617	hsa-miR-4474-5p	CLIP-seq
MIRT2177840	hsa-miR-139-5p	CLIP-seq
MIRT2426557	hsa-miR-3174	CLIP-seq
MIRT2426558	hsa-miR-3924	CLIP-seq
MIRT2177840	hsa-miR-139-5p	CLIP-seq
MIRT2426557	hsa-miR-3174	CLIP-seq
MIRT2426558	hsa-miR-3924	CLIP-seq
MIRT2481183	hsa-miR-1246	CLIP-seq
MIRT2177839	hsa-miR-1290	CLIP-seq
MIRT2481184	hsa-miR-3167	CLIP-seq
MIRT2481185	hsa-miR-3915	CLIP-seq
MIRT2481186	hsa-miR-3928	CLIP-seq
MIRT2481187	hsa-miR-4310	CLIP-seq
MIRT2481188	hsa-miR-4779	CLIP-seq
MIRT2481189	hsa-miR-876-5p	CLIP-seq
MIRT2481183	hsa-miR-1246	CLIP-seq
MIRT2675653	hsa-miR-1275	CLIP-seq
MIRT2177839	hsa-miR-1290	CLIP-seq
MIRT2675654	hsa-miR-214	CLIP-seq
MIRT2481184	hsa-miR-3167	CLIP-seq
MIRT2675655	hsa-miR-3619-5p	CLIP-seq
MIRT2481185	hsa-miR-3915	CLIP-seq
MIRT2481186	hsa-miR-3928	CLIP-seq
MIRT2675656	hsa-miR-4260	CLIP-seq
MIRT2481187	hsa-miR-4310	CLIP-seq
MIRT2675657	hsa-miR-4665-5p	CLIP-seq
MIRT2675658	hsa-miR-4690-5p	CLIP-seq
MIRT2675659	hsa-miR-4768-5p	CLIP-seq
MIRT2481188	hsa-miR-4779	CLIP-seq
MIRT2675660	hsa-miR-513c	CLIP-seq
MIRT2675661	hsa-miR-514b-5p	CLIP-seq
MIRT2675662	hsa-miR-761	CLIP-seq
MIRT2481189	hsa-miR-876-5p	CLIP-seq
MIRT2675663	hsa-miR-942	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005388	Function	P-type calcium transporter activity	IBA
GO:0005388	Function	P-type calcium transporter activity	IDA	7929331
GO:0005388	Function	P-type calcium transporter activity	IEA
GO:0005388	Function	P-type calcium transporter activity	NAS	1313367
GO:0005388	Function	P-type calcium transporter activity	TAS
GO:0005509	Function	Calcium ion binding	IDA	7929331
GO:0005515	Function	Protein binding	IPI	11274188, 11786550, 12763866, 17689535, 30126976
GO:0005516	Function	Calmodulin binding	IDA	7929331
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IDA	7929331
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	15765049
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	7929331, 11786550, 12624087
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1313367
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IMP	17234811
GO:0006816	Process	Calcium ion transport	NAS	1313367
GO:0007605	Process	Sensory perception of sound	IMP	15829536, 17234811
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030165	Function	PDZ domain binding	IDA	11786550
GO:0030182	Process	Neuron differentiation	IDA	11259493
GO:0032591	Component	Dendritic spine membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IMP	17234811
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098978	Component	Glutamatergic synapse	IDA	7929331
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	7929331
GO:0098978	Component	Glutamatergic synapse	NAS	7929331
GO:0098982	Component	GABA-ergic synapse	IDA	7929331
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IMP	7929331
GO:0098982	Component	GABA-ergic synapse	NAS	7929331
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1903779	Process	Regulation of cardiac conduction	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1905059	Function	P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IDA	7929331
GO:1905059	Function	P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IMP	7929331
GO:1905059	Function	P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	NAS	7929331

MIM	HGNC	e!Ensembl
108733	815	ENSG00000157087

Q01814

Protein name

Plasma membrane calcium-transporting ATPase 2 (PMCA2) (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2)

Protein function

ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels in specialized cells of cerebellar circuit and vestibular and cochlear systems (PubMed:15829536, PubMed:17234811). Uses ATP as an energy source to transp

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00690	Cation_ATPase_N	48 → 118	Cation transporter/ATPase, N-terminus	Domain
PF00122	E1-E2_ATPase	187 → 305		Family
PF00122	E1-E2_ATPase	373 → 477		Family
PF13246	Cation_ATPase	538 → 638		Family
PF00689	Cation_ATPase_C	902 → 1084	Cation transporting ATPase, C-terminus	Family
PF12424	ATP_Ca_trans_C	1126 → 1172	Plasma membrane calcium transporter ATPase C terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in brain cortex. Found in low levels in skeletal muscle, heart muscle, stomach, liver, kidney and lung. Isoforms containing segment B are found in brain cortex and at low levels in other tissues. Isoforms containing se

Sequence

MGDMTNSDFYSKNQRNESSHGGEFGCTMEELRSLMELRGTEAVVKIKETYGDTEAICRRL
KTSPVEGLPGTAPDLEKRKQIFGQNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIISLG
LSFYHPPGEGNEGCATAQGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFR
GLQSRIEQEQKFTVVRAGQVVQIPVAEIVVGDIAQVKYGDLLPADGLFIQGNDLKIDESS
LTGESDQVRKSVDKDPMLLSGTHVMEGSGRMLVTAVGVNSQTGIIFTLLGAGGEEEEKKD
KKGVKKGDGLQLPAADGAAASNAADSANASLVNGKMQDGNVDASQSKAKQQDGAAAMEMQ
PLKSAEGGDADDRKKASMHKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFTVDT
FVVNKKPWLPECTPVYVQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNL
VRHLDACETMGNATAICSDKTGTLTTNRMTVVQAYVGDVHYKEIPDPSSINTKTMELLIN
AIAINSAYTTKILPPEKEGALPRQVGNKTECGLLGFVLDLKQDYEPVRSQMPEEKLYKVY
TFNSVRKSMSTVIKLPDESFRMYSKGASEIVLKKCCKILNGAGEPRVFRPRDRDEMVKKV
IEPMACDGLRTICVAYRDFPSSPEPDWDNENDILNELTCICVVGIEDPVRPEVPEAIRKC
QRAGITVRMVTGDNINTARAIAIKCGIIHPGEDFLCLEGKEFNRRIRNEKGEIEQERIDK
IWPKLRVLARSSPTDKHTLVKGIIDSTHTEQRQVVAVTGDGTNDGPALKKADVGFAMGIA
GTDVAKEASDIILTDDNFSSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACIT
QDSPLKAVQMLWVNLIMDTFASLALATEPPTETLLLRKPYGRNKPLISRTMMKNILGHAV
YQLALIFTLLFVGEKMFQIDSGRNAPLHSPPSEHYTIIFNTFVMMQLFNEINARKIHGER
NVFDGIFRNPIFCTIVLGTFAIQIVIVQFGGKPFSCSPLQLDQWMWCIFIGLGELVWGQV
IATIPTSRLKFLKEAGRLTQKEEIPEEELNEDVEEIDHAERELRRGQILWFRGLNRIQTQ
IRVVKAFRSSLYEGLEKPESRTSIHNFMAHPEFRIEDSQPHIPLIDDTDLEEDAALKQNS
SPPSSLNKNNSAIDSGINLTTDTSKSATSSSPGSPIHSLETSL

Sequence length

1243

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ATP2B2-related disorder	Likely pathogenic	rs1064795322	RCV003335365	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss	Pathogenic	rs2061464108	RCV001250408	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2125357775	RCV004693762	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal dominant 82	Pathogenic; Likely pathogenic	rs2124844270, rs2060537889, rs267599520, rs752990722, rs2470498291, rs373130153	RCV002051600 RCV002051601 RCV002051607 RCV002051608 RCV002284039 RCV004585115 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1487836380, rs2125357775	RCV006249761 RCV006257341	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Agenesis of the corpus callosum with peripheral neuropathy	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associated with severe COVID-19 disease	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP2B2-related Progressive hearing impairment	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive nonsyndromic hearing loss 12	Likely benign; not provided; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 82	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, autosomal recessive 12, modifier of	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SUPRANUCLEAR PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)