PPP3R2 protein phosphatase 3 regulatory subunit B, beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP3R2provided by HGNC
Official Full Name: protein phosphatase 3 regulatory subunit B, betaprovided by HGNC
Primary source: HGNC:HGNC:9318
See related: Ensembl:ENSG00000188386 MIM:613821; AllianceGenome:HGNC:9318
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PPP3RL
Summary: Enables calcium-dependent protein serine/threonine phosphatase regulator activity. Predicted to be involved in calcineurin-mediated signaling. Predicted to act upstream of or within penetration of zona pellucida. Predicted to be located in mitochondrion and sperm mitochondrial sheath. Predicted to be part of calcineurin complex. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 9q31.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (101591604..101594969, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (113766356..113769721, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (104353886..104357251, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in the calcineurin genes are associated with the training responsiveness of cardiac phenotypes in Chinese young adults.
Data suggest an association between polymorphisms in PPP3CA, PPP3R1 and PPP3R2 and baseline levels or trainability of endurance phenotype traits.
Title: Are calcineurin genes associated with endurance phenotype traits?
Observational study of gene-disease association. (HuGE Navigator)
Title: Are calcineurin genes associated with endurance phenotype traits?
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Systematic association mapping identifies NELL1 as a novel IBD disease gene.
Data suggest that calcineurin may regulate the kinase activity of CDK4 in a cell cycle-dependent manner and may be an important component of the negative regulation of CDK4.
Title: Mitotic regulation of CDK4 by the serine/threonine phosphatase, calcineurin.
cyclosporin and tacrolimus exert significantly different effects on calcineurin activity in renal transplant patients with stable, well-functioning grafts
Title: The calcineurin activity profiles of cyclosporin and tacrolimus are different in stable renal transplant patients.
Here, we report that Cabin1 has additional CN binding domain in its 701-900 amino acid residues.
Title: A new calcineurin inhibition domain in Cabin1.
calcineurin B potentiates the activation of procaspase-3 by accelerating its proteolytic maturation
Title: Calcineurin potentiates the activation of procaspase-3 by accelerating its proteolytic maturation.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
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 penetration of zona pellucida	IEA Inferred from Electronic Annotation more info
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

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
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
part_of protein serine/threonine phosphatase complex	NAS Non-traceable Author Statement more info	PubMed
located_in sperm mitochondrial sheath	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calcineurin subunit B type 2

Names: CBLP; CNBII; calcineurin B, type II (19kDa); calcineurin B-like protein; calcineurin BII; protein phosphatase 2B regulatory subunit 2

NP_671709.2

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_147180.4 → NP_671709.2 calcineurin subunit B type 2

Status: VALIDATED

Source sequence(s)

AA904764, AL591377, BC030595

Consensus CDS

CCDS6759.2

UniProtKB/Swiss-Prot

Q5VTR4, Q7Z4V8, Q8WYJ4, Q96LZ3

Related

ENSP00000363939.2, ENST00000374806.2

Conserved Domains (1) summary

COG5126
Location:13 → 159

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]