Free for academic non-profit institutions. Other users need a Commercial license
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 (ATPase Plasma Membrane Ca2+ Transporting 4) is a Protein Coding gene. Diseases associated with ATP2B4 include X-Linked Cerebellar Ataxia and Malaria. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and cGMP-PKG signaling pathway. Gene Ontology (GO) annotations related to this gene include nucleotide binding and scaffold protein binding. An important paralog of this gene is ATP2B1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005388 | calcium-transporting ATPase activity | IEA,IMP | 8530416 |
GO:0005515 | protein binding | IPI | 17242280 |
GO:0005516 | calmodulin binding | IDA | 8530416 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 15955804 |
GO:0005901 | caveola | TAS | 11591728 |
GO:0005929 | cilium | IEA | -- |
GO:0016020 | membrane | IEA,IDA | 8530416 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction |
.39
|
|
2 | Platelet homeostasis | ||
3 | cGMP-PKG signaling pathway | ||
4 | Salivary secretion | ||
5 | Aldosterone synthesis and secretion |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003407 | neural retina development | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IMP | 19287093 |
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | IEA | -- |
GO:0006874 | cellular calcium ion homeostasis | IC,ISS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP2B4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATP2B4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATP2B4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp2b4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Atp2b4 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP2B4 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATP2B4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATP2B4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATP2B4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp2b4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atp2b4 31 |
|
OneToOne | |
atp2b1b 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | BEST:CK01140 32 |
|
|
|
PMCA 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | R05C11.3 32 |
|
|
|
mca-2 31 |
|
ManyToMany | |||
mca-3 31 |
|
ManyToMany | |||
mca-1 31 32 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMC1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ACA8 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.6027 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0605500 30 |
|
||
Os.24860 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.192 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.5013 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05154 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAPB2B4.04c 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2122 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057519192 | Uncertain Significance: not provided | 203,720,690(+) |
G/A NM_001684.5(ATP2B4):c.2548G>A (p.Val850Ile) |
MISSENSE | |
rs113186728 | Likely Benign: not provided. Benign: not provided | 203,727,553(+) |
G/AG/T NM_001684.5(ATP2B4):c.3291G>A (p.Leu1097=) |
SYNONYMOUS | |
rs114362667 | Benign: not provided | 203,708,092(+) |
C/T NM_001684.5(ATP2B4):c.1545C>T (p.Thr515=) |
SYNONYMOUS | |
rs138580420 | Likely Benign: not provided | 203,722,484(+) |
A/G NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg) |
MISSENSE | |
rs142011973 | Benign: not provided | 203,727,481(+) |
C/T NM_001684.5(ATP2B4):c.3219C>T (p.Ala1073=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv778n54 | CNV | loss | 21841781 |
dgv779n54 | CNV | loss | 21841781 |
dgv780n54 | CNV | loss | 21841781 |
dgv781n54 | CNV | loss | 21841781 |
dgv782n54 | CNV | loss | 21841781 |
dgv783n54 | CNV | loss | 21841781 |
esv26128 | CNV | gain | 19812545 |
esv2661127 | CNV | deletion | 23128226 |
esv2663220 | CNV | deletion | 23128226 |
esv2721795 | CNV | deletion | 23290073 |
esv2762217 | CNV | gain | 21179565 |
esv3545389 | CNV | deletion | 23714750 |
esv3588598 | CNV | loss | 21293372 |
nsv1120076 | OTHER | inversion | 24896259 |
nsv467994 | CNV | loss | 19166990 |
nsv549007 | CNV | loss | 21841781 |
nsv820549 | CNV | deletion | 20802225 |
nsv946594 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
x-linked cerebellar ataxia |
|
|
malaria |
|
|
schnyder corneal dystrophy |
|
|
long qt syndrome |
|
|
hereditary spastic paraplegia |
|
|