ATP2B2 - ATPase plasma membrane Ca2+ transporting 2 Gene

Also Known as PMCA2; DFNA82; PMCA2a; PMCA2i

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 491

About ATP2B2

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,324,023-10,708,007 (from NCBI)

This gene has 14 transcripts (splice variants), 453 orthologues, 21 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 26.8), salivary gland (RPKM 5.2) and 1 other tissue.

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 against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these Enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B2 Products (5)

mRNA	Protein	Name
NM_001001331.4	NP_001001331.1	plasma membrane calcium-transporting ATPase 2 isoform 1
NM_001330611.3	NP_001317540.1	plasma membrane calcium-transporting ATPase 2 isoform 3
NM_001353564.1	NP_001340493.1	plasma membrane calcium-transporting ATPase 2 isoform 2
NM_001363862.1	NP_001350791.1	plasma membrane calcium-transporting ATPase 2 isoform 4
NM_001683.5	NP_001674.2	plasma membrane calcium-transporting ATPase 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	7929331	GOA
enables P-type calcium transporter activity	IDA IDA: Inferred from direct assay	7929331	GOA
enables P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	7929331	GOA
enables P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	7929331	GOA
enables PDZ domain binding	IDA IDA: Inferred from direct assay	11786550	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	7929331	GOA
enables calmodulin binding	IDA IDA: Inferred from direct assay	7929331	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11274188	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transport	IMP IMP: Inferred from mutant phenotype	17234811	GOA
involved in neuron differentiation	IDA IDA: Inferred from direct assay	11259493	GOA
involved in regulation of cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	17234811	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	15829536	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in GABA-ergic synapse	IDA IDA: Inferred from direct assay	7929331	GOA
is active in GABA-ergic synapse	IMP IMP: Inferred from mutant phenotype	7929331	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15765049	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	7929331	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	7929331	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	7929331	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP2B2 Protein Structure

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

ATP_Ca_trans_C

0
200
400
600
800
1000
1243 a.a.

Protein Preferred Names	Protein Names
plasma membrane calcium-transporting ATPase 2	ATPase, Ca++ transporting, plasma membrane 2

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 82	DFNA82 Deafness, Autosomal Dominant, 82
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
X-Linked Cerebellar Ataxia
Cerebellar Angioblastoma	Hemangioblastoma Of Cerebellum Cerebellar Hemangioblastoma
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Spinocerebellar Ataxia, X-Linked 3	Scax3 X-Linked Spinocerebellar Ataxia 3 X-Linked Ataxia-Deafness Syndrome X-Linked Spinocerebellar Ataxia Type 3 Ataxia-Deafness Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 3 Ataxia-Deafness Syndrome X-Linked X-Linked Ataxia-Hearing Loss Syndrome Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4	Scax4 X-Linked Spinocerebellar Ataxia 4 X-Linked Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia Type 4 Ataxia-Dementia Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 4 Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia, X-Linked, 4
Acute Hemorrhagic Leukoencephalitis	Ahl Acute Haemorrhagic Leucoencephalitis Of Weston Hurst Leukoencephalitis, Acute Hemorrhagic Acute Hemorrhagic Encephalomyelitis Acute Necrotizing Hemorrhagic Leukoencephalitis Weston-Hurst Syndrome Ahle Acute Haemorrhagic Leucoencephalitis Hurst Disease Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal Postimmunization Or Postvaccinal Leukoencephalopathy
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS01195	ATP2B2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01197	ATP2B4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP2B2	VGNC	VGNC:26294
Mus musculus	ATP2B2	MGD	MGI:105368
Felis catus	ATP2B2	VGNC	VGNC:68631
Macaca mulatta	ATP2B2	VGNC	VGNC:70181
Canis familiaris	ATP2B2	VGNC	VGNC:38257
Rattus norvegicus	ATP2B2	RGD	RGD:2176
Others	ATP2B2	NCBI