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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATP2B4-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 28800327 Associate
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 16973504
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 23444010
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 28552477
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31819190
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 26448358 Associate
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia BEFREE 28062807, 28247940, 28787189, 29131013
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 33076578 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 21757185
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 21757185, 23620727
★☆☆☆☆
Found in Text Mining only