PPP3CC Gene (Protein Coding)

Protein Phosphatase 3 Catalytic Subunit Gamma

GC08P022440
GIFtS:
44
Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding differe... See more...

Aliases for PPP3CC Gene

Aliases for PPP3CC Gene

  • Protein Phosphatase 3 Catalytic Subunit Gamma 2 3 5
  • Serine/Threonine-Protein Phosphatase 2B Catalytic Subunit Gamma Isoform 3 4
  • Protein Phosphatase 3 (Formerly 2B), Catalytic Subunit, Gamma Isoform 2 3
  • Calmodulin-Dependent Calcineurin A Subunit Gamma Isoform 3 4
  • Protein Phosphatase 2B, Catalytic Subunit, Gamma Isoform 2 3
  • Protein Phosphatase 3, Catalytic Subunit, Gamma Isozyme 2 3
  • Calcineurin, Testis-Specific Catalytic Subunit 3 4
  • CAM-PRP Catalytic Subunit 3 4
  • EC 3.1.3.16 4 52
  • CALNA3 3 4
  • CNA3 3 4
  • Protein Phosphatase 3 (Formerly 2B), Catalytic Subunit, Gamma Isoform (Calcineurin A Gamma) 2
  • Calcineurin A Gamma 2
  • PP2Bgamma 3

External Ids for PPP3CC Gene

Previous GeneCards Identifiers for PPP3CC Gene

  • GC08M022210
  • GC08P022650
  • GC08P022118
  • GC08P022320
  • GC08P022354
  • GC08P022298
  • GC08P020840

Summaries for PPP3CC Gene

Entrez Gene Summary for PPP3CC Gene

  • Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for PPP3CC Gene

PPP3CC (Protein Phosphatase 3 Catalytic Subunit Gamma) is a Protein Coding gene. Diseases associated with PPP3CC include Schizophrenia 11 and Schizophrenia. Among its related pathways are Oxytocin signaling pathway and Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include hydrolase activity and phosphoprotein phosphatase activity. An important paralog of this gene is PPP3CA.

UniProtKB/Swiss-Prot Summary for PPP3CC Gene

  • Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Dephosphorylates and activates transcription factor NFATC1. Dephosphorylates and inactivates transcription factor ELK1. Dephosphorylates DARPP32.

Gene Wiki entry for PPP3CC Gene

Additional gene information for PPP3CC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP3CC Gene

Genomics for PPP3CC Gene

GeneHancer (GH) Regulatory Elements for PPP3CC Gene

Promoters and enhancers for PPP3CC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP3CC on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP3CC

Top Transcription factor binding sites by QIAGEN in the PPP3CC gene promoter:
  • aMEF-2
  • En-1
  • FOXL1
  • HEN1
  • HNF-1
  • HNF-1A
  • MEF-2A
  • Nkx2-2
  • RFX1
  • S8

Genomic Locations for PPP3CC Gene

Genomic Locations for PPP3CC Gene
chr8:22,440,819-22,541,144
(GRCh38/hg38)
Size:
100,326 bases
Orientation:
Plus strand
chr8:22,298,332-22,398,652
(GRCh37/hg19)
Size:
100,321 bases
Orientation:
Plus strand

Genomic View for PPP3CC Gene

Genes around PPP3CC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP3CC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP3CC Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PPP3CC Gene

Proteins for PPP3CC Gene

Products:

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  • Protein details for PPP3CC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48454-PP2BC_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform
    Protein Accession:
    P48454
    Secondary Accessions:
    • B4DRT5
    • Q9BSS6
    • Q9H4M5

    Protein attributes for PPP3CC Gene

    Size:
    512 amino acids
    Molecular mass:
    58129 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:19154138). 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 PPP3CC/calcineurin A, calcineurin B and calmodulin (By similarity). Interacts (via calmodulin-binding domain) with calmodulin; the interaction depends on calmodulin binding to Ca(2+) (By similarity).

    Alternative splice isoforms for PPP3CC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP3CC Gene

Protein Expression for PPP3CC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PPP3CC Gene

P48454:
  • DLLWSDP
  • LLRGNHECRHLT
  • GVLSGGKQT
  • APITVCGD
  • ICSDDEL
  • NKIRAIGKMARVF
  • NERMPPR
  • TIFSAPNY
  • VRGCSYF
  • DIRKLDRF
  • PHPYWLP
  • CGDIHGQ
  • TGFPSLIT
  • NKAAVLKYE
  • GYRMYRK
  • GDYVDRG
  • VDVLKNHLVKEGR
  • NVMNIRQF
  • KLFEVGG
  • LKGLTPTG
  • EPPAFGP
  • FMDVFTWSLPFVGEKVTEMLV
  • LLSIIRAHEAQDAGYRMY
  • KAVPFPP
  • EKTMIEV
  • IRNKIRAIGKM

Post-translational modifications for PPP3CC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP3CC Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PPP3CC Gene

Gene Families for PPP3CC Gene

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

Protein Domains for PPP3CC Gene

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

Suggested Antigen Peptide Sequences for PPP3CC Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein phosphatase (B4DRT5_HUMAN)
  • Calmodulin-dependent calcineurin A subunit gamma isoform (PP2BC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48454

UniProtKB/Swiss-Prot:

PP2BC_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-305 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 PPP3CC: view

Function for PPP3CC Gene

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  2. CRISPR
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Molecular function for PPP3CC 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. Dephosphorylates and activates transcription factor NFATC1. Dephosphorylates and inactivates transcription factor ELK1. Dephosphorylates DARPP32.
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=. ;.
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=. ;.
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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.27 uM for NFATC1 {ECO:0000269 PubMed:19154138}; KM=0.94 uM for DARPP32 {ECO:0000269 PubMed:19154138};
GENATLAS Biochemistry:
calcineurin gamma isoform,calmodulin dependent protein serine/threonine phosphatase,catalytic subunit,type 3,testis specific

Enzyme Numbers (IUBMB) for PPP3CC Gene

Phenotypes From GWAS Catalog for PPP3CC Gene

Gene Ontology (GO) - Molecular Function for PPP3CC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005516 calmodulin binding IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0033192 calmodulin-dependent protein phosphatase activity IDA,IBA 19154138
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PPP3CC: view
genes like me logo Genes that share phenotypes with PPP3CC: view

Animal Models for PPP3CC Gene

MGI Knock Outs for PPP3CC:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP3CC Gene

Localization for PPP3CC Gene

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 PPP3CC gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP3CC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IBA 19154138
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005955 calcineurin complex IBA 21873635
GO:0098793 presynapse IEA --
genes like me logo Genes that share ontologies with PPP3CC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP3CC Gene

Pathways & Interactions for PPP3CC Gene

PathCards logo

SuperPathways for PPP3CC Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
Activation of PKA through GPCR
.71
PKA Signaling
.56
2 TCR Signaling (Qiagen)
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
Fc-EpsilonRI Pathway
.49
3 Immune response NFAT in immune response
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
4 Human cytomegalovirus infection
Human cytomegalovirus infection
.43
Human immunodeficiency virus 1 infection
.43
Kaposi sarcoma-associated herpesvirus infection
.43
5 Immune response Fc epsilon RI pathway
Immune response BCR pathway
.44
Immune response Fc epsilon RI pathway
.44
VEGF signaling pathway
.37
genes like me logo Genes that share pathways with PPP3CC: view

Pathways by source for PPP3CC Gene

1 PharmGKB pathway for PPP3CC Gene
20 GeneGo (Thomson Reuters) pathways for PPP3CC 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
32 Qiagen pathways for PPP3CC 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 PPP3CC Gene

SIGNOR curated interactions for PPP3CC Gene

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for PPP3CC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA,IDA 19154138
GO:0007420 brain development IEA --
GO:0033173 calcineurin-NFAT signaling cascade IDA 19154138
GO:0097720 calcineurin-mediated signaling IBA 21873635
GO:1900242 regulation of synaptic vesicle endocytosis IEA --
genes like me logo Genes that share ontologies with PPP3CC: view

Drugs & Compounds for PPP3CC Gene

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(6) Drugs for PPP3CC Gene - From: ApexBio, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclosporin A Approved, Investigational, Vet_approved Pharma Antagonist, Inhibition, Inhibitor Immunosuppressive agent, Immunosuppressant drug, Calcineurin inhibitor 0
Pimecrolimus Approved, Investigational Pharma 66
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Calcium Approved Nutra 7884

(1) Additional Compounds for PPP3CC Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2

(2) ApexBio Compounds for PPP3CC Gene

Compound Action Cas Number
Cyclosporine Immunosuppressant drug 79217-60-0
Pimecrolimus 137071-32-0
genes like me logo Genes that share compounds with PPP3CC: view

Drug Products

Transcripts for PPP3CC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PPP3CC Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP3CC Gene

No ASD Table

Relevant External Links for PPP3CC Gene

GeneLoc Exon Structure for
PPP3CC

Expression for PPP3CC Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP3CC Gene

mRNA expression in normal human tissues for PPP3CC Gene
mRNA expression by BioGPS for PPP3CC GenemRNA expression by GTEx for PPP3CC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP3CC Gene

This gene is overexpressed in Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for PPP3CC Gene

This gene is overexpressed in Brain (13.0), Testis (11.2), Lymph node (9.3), and CD8 Tcells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP3CC Gene



Protein tissue co-expression partners for PPP3CC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP3CC

SOURCE GeneReport for Unigene cluster for PPP3CC Gene:

Hs.731683

mRNA Expression by UniProt/SwissProt for PPP3CC Gene:

P48454-PP2BC_HUMAN
Tissue specificity: Testis.

Evidence on tissue expression from TISSUES for PPP3CC Gene

  • Heart(4.3)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with PPP3CC: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP3CC Gene

Orthologs for PPP3CC Gene

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

Orthologs for PPP3CC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PPP3CC 31 30
  • 99.62 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PPP3CC 31 30
  • 92.02 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PPP3CC 31 30
  • 91.55 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ppp3cc 30
  • 87.46 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia PPP3CC 31
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ppp3cc 17 31 30
  • 86.51 (n)
oppossum
(Monodelphis domestica)
 Mammalia PPP3CC 31
  • 81 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PPP3CC 31
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ppp3cb 30
  • 74.6 (n)
zebrafish
(Danio rerio)
 Actinopterygii ppp3ccb 31
  • 81 (a)
 OneToMany
ppp3cca 31 30
  • 74.47 (n)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta PpD33 32
  • 76 (a)
Pp2B-14D 31 32
  • 66 (a)
 ManyToMany
CanA-14F 31 32
  • 64 (a)
 ManyToMany
CanA1 31 32
  • 58 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea tax-6 31
  • 64 (a)
 OneToMany
ZC477.2 32
  • 33 (a)
F49E11.7 32
  • 32 (a)
F42G8.8 32
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CNA1 33 31
  • 47 (a)
CMP2 31
  • 44 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8703 31
  • 66 (a)
 OneToMany
Species where no ortholog for PPP3CC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 PPP3CC Gene

ENSEMBL:
Gene Tree for PPP3CC (if available)
TreeFam:
Gene Tree for PPP3CC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP3CC: view image

Paralogs for PPP3CC Gene

Paralogs for PPP3CC Gene

(10) SIMAP similar genes for PPP3CC Gene using alignment to 6 proteins:

  • PP2BC_HUMAN
  • E5RJH4_HUMAN
  • G3V111_HUMAN
  • H0YB02_HUMAN
  • H0YB04_HUMAN
  • H0YC26_HUMAN
genes like me logo Genes that share paralogs with PPP3CC: view

Variants for PPP3CC Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP3CC Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
737660 Likely Benign: not provided 22,475,031(+) A/C MISSENSE_VARIANT
773221 Benign: not provided 22,531,335(+) G/A INTRON_VARIANT
rs1563790727 Uncertain Significance: Keratoconus 22,532,282(+) T/C MISSENSE_VARIANT
rs28764007 - p.Ala501Val

Additional dbSNP identifiers (rs#s) for PPP3CC Gene

Structural Variations from Database of Genomic Variants (DGV) for PPP3CC Gene

Variant ID Type Subtype PubMed ID
dgv451n21 CNV loss 19592680
dgv7136n100 CNV gain 25217958
dgv7137n100 CNV loss 25217958
esv2759604 CNV loss 17122850
esv2764071 CNV gain 21179565
esv3543215 CNV deletion 23714750
esv3616610 CNV loss 21293372
esv3616612 CNV loss 21293372
nsv518646 CNV gain 19592680
nsv831266 CNV loss 17160897
nsv971631 CNV duplication 23825009

Variation tolerance for PPP3CC Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP3CC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP3CC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP3CC Gene

Disorders for PPP3CC Gene

MalaCards: The human disease database

(5) MalaCards diseases for PPP3CC Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP3CC

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 PPP3CC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP3CC Gene

Publications for PPP3CC Gene

  1. More evidence supports the association of PPP3CC with schizophrenia. (PMID: 17339875) Liu YL … Hwu HG (Molecular psychiatry 2007) 3 23 41 54
  2. Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit. (PMID: 12851458) Gerber DJ … Tonegawa S (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 23 41 54
  3. Molecular cloning and chromosomal mapping of the human gene for the testis-specific catalytic subunit of calmodulin-dependent protein phosphatase (calcineurin A). (PMID: 1339277) Muramatsu T … Kincaid RL (Biochemical and biophysical research communications 1992) 2 3 4 54
  4. Association of calcineurin A gamma subunit (PPP3CC) and early growth response 3 (EGR3) gene polymorphisms with susceptibility to schizophrenia in a Japanese population. (PMID: 20537399) Kyogoku C … Kumagai S (Psychiatry research 2011) 3 41 54
  5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 41 54

ExternalLinks

View latest publications for PPP3CC gene in Mastermind

Products for PPP3CC Gene

Sources for PPP3CC Gene