Aliases for PPP3CA Gene

Aliases for PPP3CA Gene

  • Protein Phosphatase 3 Catalytic Subunit Alpha 2 3 5
  • Serine/Threonine-Protein Phosphatase 2B Catalytic Subunit Alpha Isoform 3 4
  • CAM-PRP Catalytic Subunit 3 4
  • Calcineurin A Alpha 2 3
  • EC 3.1.3.16 4 50
  • CALNA 3 4
  • PPP2B 2 3
  • CNA1 2 3
  • Protein Phosphatase 3 (Formerly 2B), Catalytic Subunit, Alpha Isoform (Calcineurin A Alpha) 2
  • Protein Phosphatase 3 (Formerly 2B), Catalytic Subunit, Alpha Isoform 2
  • Protein Phosphatase 2B, Catalytic Subunit, Alpha Isoform 2
  • Calmodulin-Dependent Calcineurin A Subunit Alpha Isoform 4
  • Protein Phosphatase 3, Catalytic Subunit, Alpha Isozyme 2
  • Protein Phosphatase 3 Catalytic Subunit Alpha Isozyme 3
  • ACCIID 3
  • CALNA1 3
  • IECEE1 3
  • PPP3CA 5
  • DEE91 3
  • IECEE 3
  • CALN 3
  • CCN1 3
  • CNA 4

External Ids for PPP3CA Gene

Previous HGNC Symbols for PPP3CA Gene

  • CALN
  • CALNA

Previous GeneCards Identifiers for PPP3CA Gene

  • GC04M102343
  • GC04M102402
  • GC04M102301
  • GC04M102163
  • GC04M101944
  • GC04M097682

Summaries for PPP3CA Gene

GeneCards Summary for PPP3CA Gene

PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha) is a Protein Coding gene. Diseases associated with PPP3CA include Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development and Developmental And Epileptic Encephalopathy 91. Among its related pathways are G-Beta Gamma Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is PPP3CB.

UniProtKB/Swiss-Prot Summary for PPP3CA Gene

  • Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:15671020, PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of the substrates contain a PxIxIT motif and/or a LxVP motif (PubMed:17498738, PubMed:17502104, PubMed:23468591, PubMed:27974827, PubMed:22343722). In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation (PubMed:15671020). In response to increased Ca(2+) levels following mitochondrial depolarization, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion (PubMed:18838687). Dephosphorylates heat shock protein HSPB1 (By similarity). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). In response to increased Ca(2+) levels, regulates NFAT-mediated transcription probably by dephosphorylating NFAT and promoting its nuclear translocation (PubMed:26248042). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138). May dephosphorylate CRTC2 at 'Ser-171' resulting in CRTC2 dissociation from 14-3-3 proteins (PubMed:30611118).

Gene Wiki entry for PPP3CA Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP3CA Gene

Genomics for PPP3CA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP3CA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J101345 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.5 473 6.4 SP1 ZNF207 ZNF600 SSRP1 ZMYM3 CEBPA ZNF10 POLR2A YY1 CTCF FLJ20021 PPP3CA lnc-EMCN-4 EMCN
GH04J101789 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -442.8 -442757 2.5 BCLAF1 POLR2A BCL11A ETS1 CTCF IRF4 GABPB1 EBF1 MAX SMARCA5 BANK1 RNU6-462P FLJ20021 PPP3CA L13714-353 piR-48965-103 SLC39A8
GH04J101017 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.2 +328.1 328070 5.2 BCLAF1 SP1 JUND BCL11A IRF4 EBF1 CBFB BHLHE40 SPI1 BATF PPP3CA FLJ20021 LINC01216 BANK1 piR-58102-003 HSALNG0036056 EMCN
GH04J101237 Enhancer 0.9 Ensembl ENCODE dbSUPER 15.1 +109.9 109894 5.6 JUND CEBPB FEZF1 EP300 STAT3 PRDM6 PKNOX1 FOS MAFK FLJ20021 PPP3CA MIR8066 piR-38344-101 EMCN
GH04J101278 Enhancer 1 FANTOM5 ENCODE 13 +69.0 68971 2.1 JUND ATF2 ZNF10 FEZF1 NFE2 PRDM6 ATF1 ZNF189 ZNF664 ZBTB21 FLJ20021 PPP3CA MK280144-533 MIR8066 EMCN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP3CA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP3CA

Top Transcription factor binding sites by QIAGEN in the PPP3CA gene promoter:
  • AML1a
  • Evi-1
  • GATA-3
  • HNF-1
  • HNF-1A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MyoD
  • ZIC2

Genomic Locations for PPP3CA Gene

Latest Assembly
chr4:101,023,409-101,348,295
(GRCh38/hg38)
Size:
324,887 bases
Orientation:
Minus strand

Previous Assembly
chr4:101,944,575-102,268,683
(GRCh37/hg19 by Entrez Gene)
Size:
324,109 bases
Orientation:
Minus strand

chr4:101,944,566-102,269,435
(GRCh37/hg19 by Ensembl)
Size:
324,870 bases
Orientation:
Minus strand

Genomic View for PPP3CA Gene

Genes around PPP3CA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP3CA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP3CA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP3CA Gene

Proteins for PPP3CA Gene

  • Protein details for PPP3CA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08209-PP2BA_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
    Protein Accession:
    Q08209
    Secondary Accessions:
    • A1A441
    • A8K3B7
    • A8W6Z7
    • A8W6Z8
    • B5BUA2
    • Q8TAW9

    Protein attributes for PPP3CA Gene

    Size:
    521 amino acids
    Molecular mass:
    58688 Da
    Cofactor:
    Name=Fe(3+); Xref=ChEBI:CHEBI:29034;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Forms a complex composed of a calmodulin-dependent catalytic subunit (also known as calcineurin A) and a regulatory Ca(2+)-binding subunit (also known as calcineurin B) (PubMed:8524402, PubMed:12218175, PubMed:12357034, PubMed:17498738, PubMed:22343722, PubMed:23468591, PubMed:27974827). There are three catalytic subunits, each encoded by a separate gene (PPP3CA, PPP3CB, and PPP3CC) and two regulatory subunits which are also encoded by separate genes (PPP3R1 and PPP3R2). In response to an increase in Ca(2+) intracellular levels, forms a complex composed of PPP3CA/calcineurin A, calcineurin B and calmodulin (By similarity). Interacts (via calcineurin B binding domain) with regulatory subunit PPP3R1/calcineurin B (PubMed:8524402, PubMed:12218175, PubMed:12357034, PubMed:17498738, PubMed:22343722, PubMed:23468591, PubMed:27974827). Interacts (via calmodulin-binding domain) with CALM1/calmodulin; the interaction depends on calmodulin binding to Ca(2+) (PubMed:18384083, Ref.30, PubMed:19404396, PubMed:25144868). Forms a complex composed of MYOZ2 and ACTN1 (By similarity). Within the complex interacts with MYOZ2 (PubMed:11114196). Interacts with MYOZ1 (PubMed:11114196). Interacts with MYOZ3 (PubMed:11842093). Interacts with CIB1; the interaction increases upon cardiomyocyte hypertrophy (By similarity). Interacts with CHP1 and CHP2 (By similarity). Interacts with CRTC1 (PubMed:30611118). Interacts with CRTC2 (PubMed:15454081, PubMed:30611118). Interacts with DNM1L; the interaction dephosphorylates DNM1L and promotes its translocation to mitochondria (PubMed:18838687). Interacts with CMYA5; this interaction represses calcineurin activity in muscle (By similarity). Interacts (constitutively active form) with SYNPO2 (PubMed:17923693). Interacts with scaffold protein AKAP5 (via IAIIIT motif); the interaction recruits PPP3CA to the plasma membrane following L-type Ca(2+)-channel activation (PubMed:22343722). Interacts with NFATC2 (PubMed:26248042). Interacts with RCAN3 (PubMed:26248042). Interacts with PPIA (PubMed:12218175, PubMed:12357034). Interacts with RCAN1 (PubMed:12809556). Interacts with UNC119 (By similarity).
    Miscellaneous:
    • Although African swine fever virus infects pigs and not humans, human PPP3CA has been used for the crystallization. PPP3CA interacts with African swine fever virus Mal-047/A238L (via PKIIIT and FLCVK motifs); the interaction does not block catalytic activity per se but inhibits PPP3CA function by blocking the access to the two substrate recognition sites.

    Three dimensional structures from OCA and Proteopedia for PPP3CA Gene

    Alternative splice isoforms for PPP3CA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP3CA Gene

Selected DME Specific Peptides for PPP3CA Gene

Q08209:
  • LLRGNHECRHLT
  • GVLSGGKQT
  • ICSDDEL
  • NKIRAIGKMARVF
  • EDFGNEK
  • NERMPPR
  • TIFSAPNY
  • LYLWALKI
  • VRGCSYF
  • DIRKLDRF
  • PHPYWLP
  • CGDIHGQ
  • TGFPSLIT
  • NKAAVLKYE
  • GYRMYRK
  • GDYVDRG
  • NVMNIRQF
  • QTLQSATVEAIEA
  • VALRIITEGA
  • KLFEVGG
  • DRFKEPP
  • LKGLTPTG
  • FMDVFTWSLPFVGEKVTEMLV
  • CVHGGLSP
  • KAVPFPP
  • IRNKIRAIGKM

Post-translational modifications for PPP3CA Gene

  • Ubiquitination at Lys32 and Lys142
  • Modification sites at PhosphoSitePlus

Antibodies for research

Protein products for research

Domains & Families for PPP3CA Gene

Gene Families for PPP3CA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PPP3CA Gene

InterPro:
Blocks:
  • Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase

Suggested Antigen Peptide Sequences for PPP3CA Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein phosphatase (A1A441_HUMAN)
  • Serine/threonine-protein phosphatase (A8W6Z7_HUMAN)
  • Serine/threonine-protein phosphatase (E7ETC2_HUMAN)
  • Serine/threonine-protein phosphatase (E9PK68_HUMAN)
  • Serine/threonine-protein phosphatase (E9PPC8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q08209

UniProtKB/Swiss-Prot:

PP2BA_HUMAN :
  • The autoinhibitory domain prevents access to the catalytic site.
  • Belongs to the PPP phosphatase family. PP-2B subfamily.
Domain:
  • The autoinhibitory domain prevents access to the catalytic site.
  • The autoinhibitory segment prevents access to the substrate binding site.
  • Possible isomerization of Pro-309 within the SAPNY motif triggers a conformation switch which affects the organization and thus accessibility of the active site and the substrate binding region (PxIxIF motif). The trans- to cis-transition may favor calcineurin A activation and substrate binding. The reverse cis- to trans-transition may be enhanced by peptidyl-prolyl isomerases such as PPIA.
Family:
  • Belongs to the PPP phosphatase family. PP-2B subfamily.
genes like me logo Genes that share domains with PPP3CA: view

Function for PPP3CA Gene

Molecular function for PPP3CA Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:15671020, PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of the substrates contain a PxIxIT motif and/or a LxVP motif (PubMed:17498738, PubMed:17502104, PubMed:23468591, PubMed:27974827, PubMed:22343722). In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation (PubMed:15671020). In response to increased Ca(2+) levels following mitochondrial depolarization, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion (PubMed:18838687). Dephosphorylates heat shock protein HSPB1 (By similarity). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). In response to increased Ca(2+) levels, regulates NFAT-mediated transcription probably by dephosphorylating NFAT and promoting its nuclear translocation (PubMed:26248042). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138). May dephosphorylate CRTC2 at 'Ser-171' resulting in CRTC2 dissociation from 14-3-3 proteins (PubMed:30611118).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Evidence={ECO:0000269|PubMed:15671020, ECO:0000269|PubMed:18838687, ECO:0000269|PubMed:19154138, ECO:0000269|PubMed:23468591, ECO:0000305|PubMed:26248042};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Evidence={ECO:0000269|PubMed:15671020, ECO:0000269|PubMed:18838687, ECO:0000269|PubMed:19154138, ECO:0000269|PubMed:23468591, ECO:0000305|PubMed:26248042};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.04 uM for NFATC1 {ECO:0000269|PubMed:19154138}; KM=2.22 uM for DARPP32 {ECO:0000269|PubMed:19154138};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by Ca(2+)-bound calmodulin following an increase in intracellular Ca(2+). At low Ca(2+) concentrations, the catalytic subunit (also known as calcineurin A) is inactive and is bound to the regulatory subunit (also known as calcineurin B) in which only two high-affinity binding sites are occupied by Ca(2+). In response to elevated calcium levels, the occupancy of the low-affinity sites on calcineurin B by Ca(2+) causes a conformational change of the C-terminal regulatory domain of calcineurin A, resulting in the exposure of the calmodulin-binding domain and in the partial activation of calcineurin A. The subsequent binding of Ca(2+)-bound calmodulin leads to the displacement of the autoinhibitory domain from the active site and possibly of the autoinhibitory segment from the substrate binding site which fully activates calcineurin A. Inhibited by immunosuppressant drug FK506 (tacrolimus) in complex with FKBP12 and also by immunosuppressant drug cyclosporin A (CsA) in complex with PPIA/cyclophilin A; the inhibition is Ca(2+)-dependent (PubMed:26248042).
GENATLAS Biochemistry:
calcineurin A alpha isoform,calmodulin dependent serine/threonine phosphatase 2B,catalytic subunit,58-59kDa,also abundantly expressed in the central nervous system,including the hyppocampus,involved in osteoclast regulation

Enzyme Numbers (IUBMB) for PPP3CA Gene

Phenotypes From GWAS Catalog for PPP3CA Gene

Gene Ontology (GO) - Molecular Function for PPP3CA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IEA,NAS 8392375
GO:0004723 calcium-dependent protein serine/threonine phosphatase activity IEA --
GO:0005509 calcium ion binding NAS 8392375
GO:0005515 protein binding IPI 8524402
genes like me logo Genes that share ontologies with PPP3CA: view
genes like me logo Genes that share phenotypes with PPP3CA: view

Human Phenotype Ontology for PPP3CA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPP3CA Gene

MGI Knock Outs for PPP3CA:

Animal Models for research

  • Taconic Biosciences Mouse Models for PPP3CA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP3CA

No data available for Transcription Factor Targets and HOMER Transcription for PPP3CA Gene

Localization for PPP3CA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP3CA Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Cell membrane, sarcolemma. Cytoplasm, myofibril, sarcomere, Z line. Cell projection, dendritic spine. Note=Colocalizes with ACTN1 and MYOZ2 at the Z line in heart and skeletal muscle (By similarity). Recruited to the cell membrane by scaffold protein AKAP5 following L-type Ca(2+)-channel activation (PubMed:22343722). {ECO:0000250 UniProtKB:P63329, ECO:0000269 PubMed:22343722}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP3CA gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP3CA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA,IDA 15955804
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPP3CA: view

Pathways & Interactions for PPP3CA Gene

PathCards logo

SuperPathways for PPP3CA Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
3 Immune response NFAT in immune response
.56
.56
.52
.52
4 Pathways of neurodegeneration - multiple diseases
5 Human cytomegalovirus infection
genes like me logo Genes that share pathways with PPP3CA: view

Pathways by source for PPP3CA Gene

20 GeneGo (Thomson Reuters) pathways for PPP3CA Gene
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival BAD phosphorylation
  • Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
  • Development VEGF signaling via VEGFR2 - generic cascades
  • Immune response BCR pathway
33 Qiagen pathways for PPP3CA Gene
  • 14-3-3 Induced Apoptosis
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • BAD Phosphorylation
  • Calcium Mediated T-Cell Apoptosis
2 Cell Signaling Technology pathways for PPP3CA Gene

SIGNOR curated interactions for PPP3CA Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PPP3CA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IEA --
GO:0001975 response to amphetamine IEA --
GO:0006470 protein dephosphorylation IEA,NAS 8392375
GO:0006606 protein import into nucleus IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with PPP3CA: view

Drugs & Compounds for PPP3CA Gene

(8) Drugs for PPP3CA Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pimecrolimus Approved, Investigational Pharma 66
Voclosporin Approved, Investigational Pharma inhibitor 0
Water Approved Pharma 0
Myristic acid Experimental Pharma Target 0
Phosphate Experimental Pharma 0

(2) Additional Compounds for PPP3CA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PPP3CA Gene

Compound Action Cas Number
Pimecrolimus 137071-32-0
genes like me logo Genes that share compounds with PPP3CA: view

Drug products for research

Transcripts for PPP3CA Gene

mRNA/cDNA for PPP3CA Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP3CA

Alternative Splicing Database (ASD) splice patterns (SP) for PPP3CA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2: -
SP3: - -
SP4: - -

Relevant External Links for PPP3CA Gene

GeneLoc Exon Structure for
PPP3CA

Expression for PPP3CA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP3CA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP3CA Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.8), Brain - Caudate (basal ganglia) (x5.6), Brain - Nucleus accumbens (basal ganglia) (x5.3), and Brain - Frontal Cortex (BA9) (x4.6).

Protein differential expression in normal tissues from HIPED for PPP3CA Gene

This gene is overexpressed in Brain (10.0), Lymph node (6.4), and Seminal vesicle (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP3CA Gene



Protein tissue co-expression partners for PPP3CA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP3CA

SOURCE GeneReport for Unigene cluster for PPP3CA Gene:

Hs.435512

mRNA Expression by UniProt/SwissProt for PPP3CA Gene:

Q08209-PP2BA_HUMAN
Tissue specificity: Expressed in keratinocytes (at protein level).

Evidence on tissue expression from TISSUES for PPP3CA Gene

  • Nervous system(4.8)
  • Pancreas(4.3)
  • Muscle(3.1)
  • Blood(2.9)
  • Heart(2.9)
  • Kidney(2.5)
  • Skin(2.5)
  • Liver(2.5)
  • Lung(2.5)
  • Spleen(2.5)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with PPP3CA: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP3CA Gene

Orthologs for PPP3CA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPP3CA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP3CA 29 30
  • 99.3 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPP3CA 30
  • 99 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP3CA 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP3CA 29 30
  • 96.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP3CA 29 30
  • 95.65 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp3ca 29 16 30
  • 92.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp3ca 29
  • 92.26 (n)
Chicken
(Gallus gallus)
Aves PPP3CA 29 30
  • 89.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP3CA 30
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp3ca 29
  • 85.8 (n)
Str.15624 29
African clawed frog
(Xenopus laevis)
Amphibia ppp3ca-prov 29
Zebrafish
(Danio rerio)
Actinopterygii ppp3ca 29 30
  • 75.85 (n)
OneToMany
Dr.7427 29
Fruit Fly
(Drosophila melanogaster)
Insecta PpD33 31
  • 80 (a)
CanA-14F 30 31
  • 68 (a)
ManyToMany
Pp2B-14D 29 30 31
  • 67.37 (n)
ManyToMany
CanA1 30 31
  • 60 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001279 29
  • 66.25 (n)
Worm
(Caenorhabditis elegans)
Secernentea tax-6 29 30
  • 67.71 (n)
OneToMany
F42G8.8 31
  • 34 (a)
F49E11.7 31
  • 33 (a)
ZC477.2 31
  • 33 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05489g 29
  • 58.12 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNA1 29 30
  • 58.1 (n)
ManyToMany
CMP2 30 32
  • 44 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER118C 29
  • 57.69 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8703 30
  • 71 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03804 29
  • 61.95 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppb1 29
  • 61.25 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4524 29
Species where no ortholog for PPP3CA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PPP3CA Gene

ENSEMBL:
Gene Tree for PPP3CA (if available)
TreeFam:
Gene Tree for PPP3CA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP3CA: view image
Alliance of Genome Resources:
Additional Orthologs for PPP3CA

Paralogs for PPP3CA Gene

(10) SIMAP similar genes for PPP3CA Gene using alignment to 6 proteins:

  • PP2BA_HUMAN
  • A1A441_HUMAN
  • E7ETC2_HUMAN
  • E9PK68_HUMAN
  • E9PPC8_HUMAN
  • H0YAB4_HUMAN
genes like me logo Genes that share paralogs with PPP3CA: view

Variants for PPP3CA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP3CA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1013494 Likely Benign: not provided 101,196,086(-) G/A
NM_000944.5(PPP3CA):c.89C>T (p.Thr30Ile)
MISSENSE
812184 Likely Pathogenic: Developmental and epileptic encephalopathy 91 101,025,954(-) C/T
NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn)
MISSENSE
871103 Uncertain Significance: not provided 101,346,775(-) C/A
NM_000944.5(PPP3CA):c.22G>T (p.Asp8Tyr)
MISSENSE
931475 Likely Pathogenic: Developmental and epileptic encephalopathy 91 101,032,322(-) T/TG
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)
FRAMESHIFT
945449 Uncertain Significance: not provided 101,040,505(-) C/T
NM_000944.5(PPP3CA):c.1218G>A (p.Met406Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP3CA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPP3CA Gene

Variant ID Type Subtype PubMed ID
dgv1517e212 CNV loss 25503493
dgv888n67 CNV loss 20364138
dgv9180n54 CNV loss 21841781
dgv9181n54 CNV loss 21841781
esv1177673 CNV insertion 17803354
esv2203085 CNV deletion 18987734
esv2602939 CNV deletion 19546169
esv2607263 CNV insertion 19546169
esv2657237 CNV deletion 23128226
esv2660875 CNV deletion 23128226
esv2663140 CNV deletion 23128226
esv2674848 CNV deletion 23128226
esv2677866 CNV deletion 23128226
esv2728048 CNV deletion 23290073
esv2728049 CNV deletion 23290073
esv2728050 CNV deletion 23290073
esv2728052 CNV deletion 23290073
esv2728053 CNV deletion 23290073
esv2760883 CNV loss 21179565
esv28316 CNV loss 19812545
esv29822 CNV gain+loss 19812545
esv3388157 CNV insertion 20981092
esv3449818 CNV duplication 20981092
esv3564344 CNV deletion 23714750
esv3601585 CNV gain 21293372
esv3601587 CNV loss 21293372
esv3601590 CNV loss 21293372
esv3601591 CNV loss 21293372
esv3601592 CNV loss 21293372
esv3893997 CNV loss 25118596
nsv1011351 CNV gain 25217958
nsv1072418 CNV deletion 25765185
nsv1073361 CNV deletion 25765185
nsv1114560 CNV deletion 24896259
nsv1114561 CNV deletion 24896259
nsv1123824 CNV deletion 24896259
nsv1146436 CNV deletion 26484159
nsv1152728 CNV deletion 26484159
nsv290022 CNV deletion 16902084
nsv472549 CNV novel sequence insertion 20440878
nsv475073 CNV novel sequence insertion 20440878
nsv509012 CNV insertion 20534489
nsv511238 CNV loss 21212237
nsv512832 CNV insertion 21212237
nsv513153 CNV loss 21212237
nsv518217 CNV loss 19592680
nsv820075 CNV gain 19587683
nsv820786 CNV deletion 20802225
nsv950365 CNV duplication 24416366
nsv950367 CNV deletion 24416366
nsv956313 CNV deletion 24416366

Variation tolerance for PPP3CA Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP3CA Gene

Human Gene Mutation Database (HGMD)
PPP3CA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP3CA
Leiden Open Variation Database (LOVD)
PPP3CA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP3CA Gene

Disorders for PPP3CA Gene

MalaCards: The human disease database

(21) MalaCards diseases for PPP3CA Gene - From: LNC, OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

PP2BA_HUMAN
  • Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life. {ECO:0000269 PubMed:28942967, ECO:0000269 PubMed:29432562}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) [MIM:618265]: An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures. {ECO:0000269 PubMed:29432562}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PPP3CA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPP3CA: view

No data available for Genatlas for PPP3CA Gene

Publications for PPP3CA Gene

  1. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. (PMID: 29432562) Mizuguchi T … Matsumoto N (Human molecular genetics 2018) 3 4 72
  2. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. (PMID: 28942967) Myers CT … Heinzen EL (American journal of human genetics 2017) 3 4 72
  3. Fine mapping of calcineurin (PPP3CA) gene reveals novel alternative splicing patterns, association of 5'UTR trinucleotide repeat with addiction vulnerability, and differential isoform expression in Alzheimer's disease. (PMID: 20590401) Chiocco MJ … Liu QR (Substance use & misuse 2010) 3 4 40
  4. Mitogenic Signals Stimulate the CREB Coactivator CRTC3 through PP2A Recruitment. (PMID: 30611118) Sonntag T … Montminy M (iScience 2019) 3 4
  5. Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. (PMID: 30254215) Rydzanicz M … Płoski R (European journal of human genetics : EJHG 2019) 3 72

Products for PPP3CA Gene

Sources for PPP3CA Gene