ATP2B4 - ATPase plasma membrane Ca2+ transporting 4 Gene

Also Known as MXRA1; PMCA4; ATP2B2; PMCA4b; PMCA4x

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 493

About ATP2B4

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,626,832-203,744,081 (from NCBI)

This gene has 7 transcripts (splice variants), 219 orthologues and 21 paralogues. Ubiquitous expression in endometrium (RPKM 66.6), fat (RPKM 45.1) and 23 other tissues.

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 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B4 Products (8)

mRNA Protein Name
NM_001365783.2 NP_001352712.1 plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001365784.2 NP_001352713.1 plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001684.5 NP_001675.3 plasma membrane calcium-transporting ATPase 4 isoform 4b
NM_001001396.3 NP_001001396.1 plasma membrane calcium-transporting ATPase 4 isoform 4a
NM_001001396.3 NP_001001396.1 plasma membrane calcium-transporting ATPase 4 isoform 4a
NM_001365783.2 NP_001352712.1 plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001365784.2 NP_001352713.1 plasma membrane calcium-transporting ATPase 4 isoform 4c
NM_001684.5 NP_001675.3 plasma membrane calcium-transporting ATPase 4 isoform 4b
Molecular Function GO Annotation Evidence References Source
enables P-type calcium transporter activity IMP
IMP: Inferred from mutant phenotype
8530416 GOA
enables calcium ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
23549614 GOA
enables calmodulin binding IDA
IDA: Inferred from direct assay
8530416 GOA
enables nitric-oxide synthase binding IPI
IPI: Inferred from physical interaction
11591728 GOA
enables nitric-oxide synthase inhibitor activity IDA
IDA: Inferred from direct assay
11591728 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11274188 GOA
enables protein phosphatase 2B binding IDA
IDA: Inferred from direct assay
19287093 GOA
enables protein phosphatase 2B binding IMP
IMP: Inferred from mutant phenotype
25147342 GOA
enables protein phosphatase 2B binding IPI
IPI: Inferred from physical interaction
15955804 GOA
Biological Process GO Annotation Evidence References Source
involved in calcium ion export IDA
IDA: Inferred from direct assay
25798335 GOA
involved in calcium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
8530416 GOA
involved in cellular response to epinephrine stimulus IDA
IDA: Inferred from direct assay
19278978 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: Inferred from direct assay
19278978 GOA
involved in negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway IDA
IDA: Inferred from direct assay
17242280 GOA
involved in negative regulation of angiogenesis IDA
IDA: Inferred from direct assay
25147342 GOA
involved in negative regulation of arginine catabolic process IDA
IDA: Inferred from direct assay
19278978 GOA
involved in negative regulation of blood vessel endothelial cell migration IDA
IDA: Inferred from direct assay
25147342 GOA
involved in negative regulation of calcineurin-NFAT signaling cascade IDA
IDA: Inferred from direct assay
19287093 GOA
involved in negative regulation of calcineurin-NFAT signaling cascade IMP
IMP: Inferred from mutant phenotype
15955804 GOA
involved in negative regulation of cardiac muscle hypertrophy in response to stress IMP
IMP: Inferred from mutant phenotype
19287093 GOA
involved in negative regulation of cellular response to vascular endothelial growth factor stimulus IDA
IDA: Inferred from direct assay
25147342 GOA
involved in negative regulation of citrulline biosynthetic process IDA
IDA: Inferred from direct assay
19278978 GOA
involved in negative regulation of gene expression IDA
IDA: Inferred from direct assay
25147342 GOA
involved in negative regulation of nitric oxide biosynthetic process IDA
IDA: Inferred from direct assay
11591728 GOA
involved in negative regulation of nitric-oxide synthase activity IDA
IDA: Inferred from direct assay
11591728 GOA
involved in negative regulation of the force of heart contraction IDA
IDA: Inferred from direct assay
17242280 GOA
acts upstream of negative effect nitric oxide-cGMP-mediated signaling IDA
IDA: Inferred from direct assay
19278978 GOA
involved in positive regulation of protein localization to plasma membrane IDA
IDA: Inferred from direct assay
15955804 GOA
involved in regulation of cell cycle G1/S phase transition IMP
IMP: Inferred from mutant phenotype
24448801 GOA
involved in regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
19287093 GOA
involved in response to hydrostatic pressure IMP
IMP: Inferred from mutant phenotype
19287093 GOA
Cellular Component GO Annotation Evidence References Source
located in T-tubule IDA
IDA: Inferred from direct assay
19287093 GOA
located in Z disc IDA
IDA: Inferred from direct assay
19287093 GOA
located in membrane IDA
IDA: Inferred from direct assay
8530416 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
23549614 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

ATP2B4 Protein Structure

ATPase-IIB_Ca

ATPase-IIB_Ca: cl36924 (19 - 1051)

ATP_Ca_trans_C

ATP_Ca_trans_C: pfam12424 (1088 - 1134)

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  • 1205 a.a.
Protein Preferred Names Protein Names

plasma membrane calcium-transporting ATPase 4

  • ATPase, Ca++ transporting, plasma membrane 4

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Schnyder Corneal Dystrophy
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Long Qt Syndrome
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Malaria
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  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

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  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

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  • Malaria, Cerebral, Reduced Risk Of

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  • Malaria Due To G6pd Deficiency

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  • Chagres Virus Disease

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  • Congestive Fever

  • Malarial Cachexia

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Alpha-Thalassemia
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Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus ATP2B4 MGD MGI:88111
Macaca mulatta ATP2B4 VGNC VGNC:70183
Bos taurus ATP2B4 VGNC VGNC:97243
Felis catus ATP2B4 VGNC VGNC:68639
Rattus norvegicus ATP2B4 RGD RGD:621305
Canis familiaris ATP2B4 VGNC VGNC:38259
Others ATP2B4 NCBI