2. Gene
  3. ATP2B2 - ATPase plasma membrane Ca2+ transporting 2 Gene

ATP2B2 - ATPase plasma membrane Ca2+ transporting 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PMCA2; DFNA82; PMCA2a; PMCA2i

Gene ID: 491 | Gene type: protein coding

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

ATP2B2 Protein Structure

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (50 - 118)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (157 - 489)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (494 - 832)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (903 - 1081)

ATP_Ca_trans_C

ATP_Ca_trans_C: Plasma membrane calcium transporter ATPase C terminal (1126 - 1188)

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  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01195 ATP2B2 Human Pre-designed siRNA Set A Pre-designed Sets / 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