Gene Gene information from NCBI Gene database.
Entrez ID 493
Gene name ATPase plasma membrane Ca2+ transporting 4
Gene symbol ATP2B4
Synonyms (NCBI Gene)
ATP2B2MXRA1PMCA4PMCA4bPMCA4x
Chromosome 1
Chromosome location 1q32.1
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
miRNA miRNA information provided by mirtarbase database.
1268
miRTarBase ID miRNA Experiments Reference
MIRT017163 hsa-miR-335-5p Microarray 18185580
MIRT023603 hsa-miR-1-3p Proteomics 18668040
MIRT030786 hsa-miR-21-5p Microarray 18591254
MIRT038088 hsa-miR-423-5p CLASH 23622248
MIRT712582 hsa-miR-6752-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
99
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003407 Process Neural retina development IEA
GO:0005388 Function P-type calcium transporter activity IBA
GO:0005388 Function P-type calcium transporter activity IEA
GO:0005388 Function P-type calcium transporter activity IMP 8530416
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
108732 817 ENSG00000058668
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23634
Protein name Plasma membrane calcium-transporting ATPase 4 (PMCA4) (EC 7.2.2.10) (Matrix-remodeling-associated protein 1) (Plasma membrane calcium ATPase isoform 4) (Plasma membrane calcium pump isoform 4)
Protein function Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motil
PDB 1CFF , 2KNE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00690 Cation_ATPase_N 46 116 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 185 301 Family
PF00122 E1-E2_ATPase 335 443 Family
PF13246 Cation_ATPase 508 604 Family
PF00702 Hydrolase 633 797 Domain
PF00689 Cation_ATPase_C 867 1049 Cation transporting ATPase, C-terminus Family
PF12424 ATP_Ca_trans_C 1089 1125 Plasma membrane calcium transporter ATPase C terminal Family
PF12424 ATP_Ca_trans_C 1126 1171 Plasma membrane calcium transporter ATPase C terminal Family
Tissue specificity TISSUE SPECIFICITY: Isoform XB is the most abundant isoform and is expressed ubiquitously. Isoforms containing segment Z have only been detected in heart, while isoforms containing segment a have been found in heart, stomach and brain cortex. {ECO:0000269
Sequence
MTNPSDRVLPANSMAESREGDFGCTVMELRKLMELRSRDALTQINVHYGGVQNLCSRLKT
SPVEGLSGNPADLEKRRQVFGHNVIPPKKPKTFLELVWEALQDVTLIILEIAAIIS
LVLS
FYRPAGEENELCGQVATTPEDENEAQAGWIEGAAILFSVIIVVLVTAFNDWSKEKQFRGL
QCRIEQEQKFSIIRNGQLIQLPVAEIVVGDIAQVKYGDLLPADGILIQGNDLKIDESSLT
GESDHVKKSLDKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIILTLLGVNEDDEGEKKKK
G
KKQGVPENRNKAKTQDGVALEIQPLNSQEGIDNEEKDKKAVKVPKKEKSVLQGKLTRLA
VQIGKAGLLMSALTVFILILYFVIDNFVINRRPWLPECTPIYIQYFVKFFIIGITVLVVA
VPEGLPLAVTISLAYSVKKMMKD
NNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQA
YIGGIHYRQIPSPDVFLPKVLDLIVNGISINSAYTSKILPPEKEGGLPRQVGNKTECALL
GFVTDLKQDYQAVRNEVPEEKLYKVYTFNSVRKSMSTVIRNPNGGFRMYSKGASEIILRK
CNRI
LDRKGEAVPFKNKDRDDMVRTVIEPMACDGLRTICIAYRDFDDTEPSWDNENEILT
ELTCIAVVGIEDPVRPEVPDAIAKCKQAGITVRMVTGDNINTARAIATKCGILTPGDDFL
CLEGKEFNRLIRNEKGEVEQEKLDKIWPKLRVLARSSPTDKHTLVKGIIDSTVGEHRQVV
AVTGDGTNDGPALKKAD
VGFAMGIAGTDVAKEASDIILTDDNFTSIVKAVMWGRNVYDSI
SKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTFASLALATEPPTESLL
KRRPYGRNKPLISRTMMKNILGHAFYQLIVIFILVFAGEKFFDIDSGRKAPLHSPPSQHY
TIVFNTFVLMQLFNEINSRKIHGEKNVFSGIYRNIIFCSVVLGTFICQIFIVEFGGKPFS
CTSLSLSQWLWCLFIGIGELLWGQFISAI
PTRSLKFLKEAGHGTTKEEITKDAEGLDEID
HAEMELRRGQILWFRGLNRIQTQIDVINTFQTGASFKGVLRRQNMGQHLDVKLVPSSSYI
KVVKAFHSSLHESIQKPYNQKSIHSFMTHPE
FAIEEELPRTPLLDEEEEENPDKASKFGT
RVLLLDGEVTPYANTNNNAVDCNQVQLPQSDSSLQSLETSV
Sequence length 1241
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
38
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP2B4-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs143539533, rs140289832, rs2228446, rs139111192, rs2229564, rs61825652, rs113580712, rs201495785, rs200815867, rs752876520, rs758017863, rs752713893, rs1358703183, rs77197094, rs1375900575
View all (9 more)
RCV003933477
RCV003958833
RCV003913799
RCV003951209
RCV003933447
RCV003923546
RCV003958793
RCV003961066
RCV003954065
RCV003412292
RCV003907157
RCV003981550
RCV003981638
RCV003944319
RCV003954349
RCV003977018
RCV003920442
RCV003930421
RCV003920428
RCV003920423
RCV003920424
RCV003908333
RCV003975458
RCV003967918
Cervical cancer Uncertain significance rs183918559 RCV005922867
Chronic lymphocytic leukemia/small lymphocytic lymphoma Uncertain significance rs183918559 RCV005922870
Familial pancreatic carcinoma Uncertain significance rs183918559 RCV005922868
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 25906147
Alzheimer Disease Associate 28800327
Arrhythmias Cardiac Associate 26448358
Breast Neoplasms Associate 22733819, 24439526
Breast Neoplasms Inhibit 30352569
Burkitt Lymphoma Associate 30849090
Carcinoma Pancreatic Ductal Stimulate 36876504
Cardiomegaly Associate 25906147
Developmental Dysplasia of the Hip Associate 28327142, 34174923
Diabetes Mellitus Stimulate 17957572