PPP3CC protein phosphatase 3 catalytic subunit gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP3CCprovided by HGNC
Official Full Name: protein phosphatase 3 catalytic subunit gammaprovided by HGNC
Primary source: HGNC:HGNC:9316
See related: Ensembl:ENSG00000120910 MIM:114107; AllianceGenome:HGNC:9316
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNA3; CALNA3; PP2Bgamma
Summary: 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]
Expression: Broad expression in testis (RPKM 12.3), lymph node (RPKM 5.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22441078..22541125)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22714907..22814982)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (22298591..22398638)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LINC-PINT suppresses breast cancer cell proliferation and migration via MEIS2/PPP3CC/NF-kappaB pathway by sponging miR-576-5p.
Title: LINC-PINT suppresses breast cancer cell proliferation and migration via MEIS2/PPP3CC/NF-κB pathway by sponging miR-576-5p.
Calcineurin Gamma Catalytic Subunit PPP3CC Inhibition by miR-200c-3p Affects Apoptosis in Epithelial Ovarian Cancer.
Title: Calcineurin Gamma Catalytic Subunit PPP3CC Inhibition by miR-200c-3p Affects Apoptosis in Epithelial Ovarian Cancer.
Calcineurin A gamma and NFATc3/SRPX2 axis contribute to human embryonic stem cell differentiation.
Title: Calcineurin A gamma and NFATc3/SRPX2 axis contribute to human embryonic stem cell differentiation.
PPP3CC rs7431 may alter miRNA binding ability of miR-212 and miR-132, and thus decrease bladder cancer risk.
Title: Genetic Variations in the 3'-untranslated Regions of Genes Involved in the Cell Cycle and Apoptosis Pathways Affect Bladder Cancer Risk.
These findings indicated that the down-regulation of PPP3CC by ZEB1 resulted in activation of NF-kappaB is a critical oncogenic event in gliomas.
Title: Repression of the expression of PPP3CC by ZEB1 confers activation of NF-κB and contributes to invasion and growth in glioma cells.
The rs2443504 AA genotype was associated with the Glasgow coma score at 3, 6, and 12 months following severe brain injury.
Title: Variation in PPP3CC Genotype Is Associated with Long-Term Recovery after Severe Brain Injury.
Knockdown of CNAgamma leads to a disruption of synaptic vesicle cycling in hippocampal neurons.
Title: Calcineurin Aγ is a Functional Phosphatase That Modulates Synaptic Vesicle Endocytosis.
The PPP3CC involved in the regulation of immune system and synaptic plasticity, seems promising for further investigation.
Title: PPP3CC gene: a putative modulator of antidepressant response through the B-cell receptor signaling pathway.
protein level of PPP3CC negatively correlates with the cellular level of IP3, suggesting a regulatory role of PPP3CC in the IP3-Ca2+ signaling pathway
Title: PPP3CC feedback regulates IP3-Ca2+ pathway through preventing ITPKC degradation.
study suggests that NMDA receptor-mediated signalling genes, DAO, PPP3CC, DTNBP1 might be involved in schizophrenia pathogenic mechanisms related to gender
Title: Schizophrenia susceptibility and NMDA-receptor mediated signalling: an association study involving 32 tagSNPs of DAO, DAOA, PPP3CC, and DTNBP1 genes.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host determinants of HIV-1 control in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin	PubMed
Tat	tat	Induction of TNF-alpha by HIV-1 Tat is inhibited by cyclosporin A, an inhibitor of calcineurin that acts by preventing the dephosphorylation of NF-AT, suggesting Tat activates calcineurin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15891 (e-PCR)
- UniSTS:83092

D8S2036 (e-PCR)
- UniSTS:71635

PMC166426P1 (e-PCR)
- UniSTS:271597

STS-N89721 (e-PCR)
- UniSTS:22780

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-dependent protein serine/threonine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin-dependent protein phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin-dependent protein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcineurin-NFAT signaling cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in calcineurin-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of calcium ion import across plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcineurin-NFAT signaling cascade	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcium ion import across plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of calcineurin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of calcineurin complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
part_of protein serine/threonine phosphatase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform

Names: CAM-PRP catalytic subunit; calcineurin, testis-specific catalytic subunit; protein phosphatase 3, catalytic subunit, gamma isozyme

NP_001230903.1

EC 3.1.3.16

NP_001230904.1

EC 3.1.3.16

NP_005596.2

EC 3.1.3.16

XP_047277897.1

EC 3.1.3.16

XP_047277898.1

EC 3.1.3.16

XP_054216746.1

EC 3.1.3.16

XP_054216747.1

EC 3.1.3.16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001243974.2 → NP_001230903.1 serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 1

See identical proteins and their annotated locations for NP_001230903.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC037459, AK055013, AK299415, AY007249

Consensus CDS

CCDS59093.1

UniProtKB/Swiss-Prot

P48454

Related

ENSP00000380878.3, ENST00000397775.7

Conserved Domains (2) summary

smart00156
Location:54 → 325

PP2Ac; Protein phosphatase 2A homologues, catalytic domain

cd07416
Location:37 → 341

MPP_PP2B; PP2B, metallophosphatase domain
NM_001243975.2 → NP_001230904.1 serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 3

See identical proteins and their annotated locations for NP_001230904.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) lacks two alternate internal segments compared to isoform 1.

Source sequence(s)

AK055013, AK299415, AY007249, S46622

Consensus CDS

CCDS59094.1

UniProtKB/Swiss-Prot

P48454

Related

ENSP00000289963.8, ENST00000289963.12

Conserved Domains (2) summary

smart00156
Location:54 → 325

PP2Ac; Protein phosphatase 2A homologues, catalytic domain

cd07416
Location:37 → 341

MPP_PP2B; PP2B, metallophosphatase domain
NM_005605.5 → NP_005596.2 serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2

See identical proteins and their annotated locations for NP_005596.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK055013, AY007249, BC004864

Consensus CDS

CCDS34859.1

UniProtKB/Swiss-Prot

B4DRT5, P48454, Q9BSS6, Q9H4M5

Related

ENSP00000240139.5, ENST00000240139.10

Conserved Domains (1) summary

cd07416
Location:37 → 341

MPP_PP2B; PP2B, metallophosphatase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

22441078..22541125

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421941.1 → XP_047277897.1 serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform X1
XM_047421942.1 → XP_047277898.1 serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform X2

RNA

XR_007060744.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

22714907..22814982

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054360771.1 → XP_054216746.1 serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform X1
XM_054360772.1 → XP_054216747.1 serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform X2