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Aliases for PPP3CA Gene

Aliases for PPP3CA Gene

  • Protein Phosphatase 3 Catalytic Subunit Alpha 2 3 5
  • Protein Phosphatase 3 (Formerly 2B), Catalytic Subunit, Alpha Isoform 2 3
  • Calmodulin-Dependent Calcineurin A Subunit Alpha Isoform 3 4
  • Protein Phosphatase 2B, Catalytic Subunit, Alpha Isoform 2 3
  • CAM-PRP Catalytic Subunit 3 4
  • Calcineurin A Alpha 2 3
  • CALNA 3 4
  • Protein Phosphatase 3 (Formerly 2B), Catalytic Subunit, Alpha Isoform (Calcineurin A Alpha) 2
  • Serine/Threonine-Protein Phosphatase 2B Catalytic Subunit Alpha Isoform 3
  • Protein Phosphatase 3, Catalytic Subunit, Alpha Isozyme 2
  • Protein Phosphatase 3 Catalytic Subunit Alpha Isozyme 3
  • EC 3.1.3.16 4
  • CALNA1 3
  • IECEE1 3
  • IECEE 3
  • PPP2B 3
  • CCN1 3
  • CNA1 3
  • CALN 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 Epileptic Encephalopathy, Infantile Or Early Childhood, 1 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Antigen activates B Cell Receptor (BCR) leading to generation of second messengers and T cell receptor signaling pathway. 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 for PPP3CA Gene

  • Calcium-dependent, calmodulin-stimulated protein phosphatase. Many of the substrates contain a PxIxIT motif. This subunit may have a role in the calmodulin activation of calcineurin. Dephosphorylates DNM1L, HSPB1 and SSH1.

Gene Wiki entry for PPP3CA Gene

Additional gene information for PPP3CA Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP3CA Gene

Genomics for PPP3CA Gene

GeneHancer (GH) Regulatory Elements for PPP3CA Gene

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 dbSUPER 650.7 +0.2 205 5.9 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS FLJ20021 PPP3CA GC04M101343
GH04J101789 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 10.5 -442.5 -442494 1.9 RB1 SIN3A BMI1 BATF IRF4 ZNF48 ETS1 ZNF143 ETV6 BCLAF1 BANK1 RNU6-462P FLJ20021 PPP3CA MTND5P5
GH04J101017 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.2 +327.9 327902 4.9 JUN EBF1 BATF IRF4 GATA3 NFATC1 EED ATF7 FOSL2 ETV6 PPP3CA FLJ20021 LINC01216 BANK1 EMCN MIR8066
GH04J101278 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13 +68.9 68943 2.1 ATF1 ZBTB21 ZNF140 FEZF1 HIC1 ZNF335 ZNF664 POLR2A ATF7 NFE2 FLJ20021 PPP3CA GC04M101296 MIR8066
GH04J101211 Enhancer 0.9 ENCODE dbSUPER 10.7 +137.0 136969 0.2 FOXA2 MZF1 CTBP1 GATA3 ZNF26 FOS FOSL2 MAFK NFE2L2 REST FLJ20021 PPP3CA 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PPP3CA Gene

Genomic Locations for PPP3CA Gene
chr4:101,023,409-101,348,278
(GRCh38/hg38)
Size:
324,870 bases
Orientation:
Minus strand
chr4:101,944,566-102,269,435
(GRCh37/hg19)
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:
    • Composed of two components (A and B), the A component is the catalytic subunit and the B component confers calcium sensitivity (By similarity). Interacts with CRTC2, MYOZ1, MYOZ2 and MYOZ3 (PubMed:11114196, PubMed:11842093). Interacts with DNM1L; the interaction dephosphorylates DNM1L and regulates its translocation to mitochondria (PubMed:18838687). Interacts with CMYA5; this interaction represses calcineurin activity in muscle (By similarity).Interacts with CIB1; the interaction increases upon cardiomyocytes hypertrophy (By similarity). Interacts with CHP1 and CHP2 (By similarity). Interacts (constitutively active form) with SYNPO2 (PubMed:17923693).

    Three dimensional structures from OCA and Proteopedia for PPP3CA Gene

    Alternative splice isoforms for PPP3CA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP3CA Gene

Post-translational modifications for PPP3CA Gene

  • Ubiquitination at Lys142 and Lys32
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP3CA Gene

Domains & Families for PPP3CA Gene

Gene Families for PPP3CA Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q08209

UniProtKB/Swiss-Prot:

PP2BA_HUMAN :
  • Belongs to the PPP phosphatase family. PP-2B subfamily.
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. Many of the substrates contain a PxIxIT motif. This subunit may have a role in the calmodulin activation of calcineurin. Dephosphorylates DNM1L, HSPB1 and SSH1.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
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 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

Animal Models for PPP3CA Gene

MGI Knock Outs for PPP3CA:

Animal Model Products

  • Taconic Biosciences Mouse Models for PPP3CA

miRNA for PPP3CA Gene

miRTarBase miRNAs that target PPP3CA

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP3CA Gene

Localization for PPP3CA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP3CA Gene

Cell membrane. Cell membrane, sarcolemma. Nucleus. Note=Colocalizes with ACTN1 and MYOZ2 at the Z line in heart and skeletal muscle. {ECO:0000250 UniProtKB:P63328}.

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
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 3
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
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 IDA 19154138
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPP3CA: view

Pathways & Interactions for PPP3CA Gene

genes like me logo Genes that share pathways with PPP3CA: view

Pathways by source for PPP3CA Gene

SIGNOR curated interactions for PPP3CA Gene

Activates:
Inactivates:
Is activated by:

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, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclosporin A Approved, Investigational, Vet_approved Pharma Antagonist, Inhibition, Inhibitor Immunosuppressant drug, Immunosuppressive agent, Calcineurin inhibitor 0
calcium Approved Nutra 0
Pimecrolimus Approved, Investigational Pharma 64
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for PPP3CA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with PPP3CA: view

Transcripts for PPP3CA Gene

Unigene Clusters for PPP3CA Gene

Protein phosphatase 3, catalytic subunit, alpha isozyme:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
PPP3CA

Expression for PPP3CA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PPP3CA Gene:

PPP3CA

SOURCE GeneReport for Unigene cluster for PPP3CA Gene:

Hs.435512

Evidence on tissue expression from TISSUES for PPP3CA Gene

  • Nervous system(4.8)
  • Pancreas(4.1)
  • Muscle(2.9)
  • Blood(2.8)
  • Heart(2.7)
  • Kidney(2.7)
  • Spleen(2.3)
  • Liver(2.2)
  • Intestine(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with PPP3CA: view

No data available for mRNA Expression by UniProt/SwissProt and 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 34 33
  • 99.3 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPP3CA 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP3CA 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP3CA 34 33
  • 96.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPP3CA 34 33
  • 95.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp3ca 16 34 33
  • 92.71 (n)
rat
(Rattus norvegicus)
Mammalia Ppp3ca 33
  • 92.26 (n)
chicken
(Gallus gallus)
Aves PPP3CA 34 33
  • 89.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP3CA 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp3ca 33
  • 85.8 (n)
Str.15624 33
African clawed frog
(Xenopus laevis)
Amphibia ppp3ca-prov 33
zebrafish
(Danio rerio)
Actinopterygii ppp3ca 34 33
  • 75.85 (n)
OneToMany
Dr.7427 33
fruit fly
(Drosophila melanogaster)
Insecta PpD33 35
  • 80 (a)
CanA-14F 34 35
  • 68 (a)
ManyToMany
Pp2B-14D 34 35 33
  • 67.37 (n)
ManyToMany
CanA1 34 35
  • 60 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001279 33
  • 66.25 (n)
worm
(Caenorhabditis elegans)
Secernentea tax-6 34 33
  • 67.71 (n)
OneToMany
F42G8.8 35
  • 34 (a)
F49E11.7 35
  • 33 (a)
ZC477.2 35
  • 33 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05489g 33
  • 58.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNA1 34 33
  • 58.1 (n)
ManyToMany
CMP2 36 34
  • 44 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER118C 33
  • 57.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8703 34
  • 71 (a)
OneToMany
Cin.4524 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03804 33
  • 61.95 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppb1 33
  • 61.25 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4524 33
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

Paralogs for PPP3CA Gene

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 from dbSNP and Humsavar for PPP3CA Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs199706529 pathogenic, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 101,083,203(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
VAR_080348 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] p.His92Arg
VAR_080349 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] p.His281Gln
VAR_080350 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] p.Glu282Lys
VAR_080352 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] p.Ala447Thr

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

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

Disorders for PPP3CA Gene

MalaCards: The human disease database

(13) MalaCards diseases for PPP3CA Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PPP3CA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPP3CA: view

No data available for Genatlas for PPP3CA Gene

Publications for PPP3CA Gene

  1. 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 44 58
  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 58
  3. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. (PMID: 21979947) Li X … Rabinowitz YS (Human molecular genetics 2012) 3 44 58
  4. Identification of differentially expressed genes in uveal melanoma using suppressive subtractive hybridization. (PMID: 21647268) Landreville S … Salesse C (Molecular vision 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for PPP3CA Gene

Sources for PPP3CA Gene

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