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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ATP2B2-related disorder	Likely pathogenic	rs1064795322	RCV003335365
Autosomal dominant nonsyndromic hearing loss	Pathogenic	rs2061464108	RCV001250408
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2125357775	RCV004693762
Hearing loss, autosomal dominant 82	Pathogenic; Likely pathogenic	rs2124844270, rs2060537889, rs267599520, rs752990722, rs2470498291, rs373130153	RCV002051600 RCV002051601 RCV002051607 RCV002051608 RCV002284039 RCV004585115
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1487836380, rs2125357775	RCV006249761 RCV006257341

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs34987582	RCV005916507
Agenesis of the corpus callosum with peripheral neuropathy	Benign	rs61736451	RCV001258253
Associated with severe COVID-19 disease	Benign	rs2289274, rs2289273	RCV003401645 RCV003401648
ATP2B2-related Progressive hearing impairment	Conflicting classifications of pathogenicity	rs1057520233	RCV002265755
Autosomal recessive nonsyndromic hearing loss 12	Likely benign; not provided; Uncertain significance	rs1167853871, rs2470641573, rs2470175441	RCV003214131 RCV003313729 RCV003333674
Clear cell carcinoma of kidney	Benign	rs73014694	RCV005912187
Deafness, autosomal recessive 12, modifier of	Benign	rs61736451	RCV000019379
Hearing impairment	Uncertain significance	rs1473080344	RCV001375144
Lung cancer	Benign	rs73014694	RCV005912188
Ovarian serous cystadenocarcinoma	Likely benign	rs41292841	RCV005926996
Uterine carcinosarcoma	Benign	rs725027	RCV005920165

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	33076578
Autistic Disorder	Associate	23620727
Breast Neoplasms	Associate	15911623, 27148852
Carcinoma Renal Cell	Associate	34621242
Cerebellar Ataxia	Associate	36207321
Diabetes Mellitus	Associate	17957572
Epilepsy	Associate	37865723
Hearing Loss	Associate	15829536, 30535804, 36207321, 37582836
Hearing Loss High Frequency	Associate	30535804
Hearing Loss Noise Induced	Associate	25484013
Hearing Loss Sensorineural	Associate	15829536
Heart Defects Congenital	Associate	10922384, 7951234
Hypersensitivity Delayed	Associate	36207321
Hypertension	Associate	17957572
Neoplasms	Associate	24439526
Obesity	Associate	34621242
Supranuclear Palsy Progressive	Associate	33635380
Tooth Loss	Associate	15829536

ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)