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

Gene ID: 5535, updated on 5-Mar-2024

Summary

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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
Predicted to enable calcium ion binding activity and calcium-dependent protein serine/threonine phosphatase regulator activity. Predicted to be involved in regulation of catalytic activity. Predicted to act upstream of or within penetration of zona pellucida. Predicted to be located in sperm mitochondrial sheath. Predicted to be part of calcineurin complex. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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Location:
9q31.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (101591604..101594969, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (113766356..113769721, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104353886..104357251, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TMEM246 antisense RNA 1 Neighboring gene post-GPI attachment to proteins GalNAc transferase 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:104275376-104275886 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:104275887-104276395 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:104276396-104276905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:104286647-104287146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28726 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:104316489-104316706 Neighboring gene ring finger protein 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28727 Neighboring gene uncharacterized LOC105376186 Neighboring gene glutamate ionotropic receptor NMDA type subunit 3A Neighboring gene Sharpr-MPRA regulatory region 1857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:104500238-104500762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:104500763-104501286 Neighboring gene MT-ND3 pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The calcineurin activity profiles of cyclosporin and tacrolimus are different in stable renal transplant patients. Koefoed-Nielsen PB, et al. Transpl Int, 2006 Oct. PMID 16961774
  2. Characterization of a human regulatory subunit of protein phosphatase 3 gene (PPP3RL) expressed specifically in testis. Liu L, et al. Mol Biol Rep, 2005 Mar. PMID 15865209
  3. Mitotic regulation of CDK4 by the serine/threonine phosphatase, calcineurin. Chow R, et al. Biochem Biophys Res Commun, 2007 Nov 23. PMID 17892862
  4. A new calcineurin inhibition domain in Cabin1. Jang H, et al. Biochem Biophys Res Commun, 2007 Jul 20. PMID 17531200
  5. cDNA cloning of a novel testis-specific calcineurin B-like protein. Mukai H, et al. Biochem Biophys Res Commun, 1991 Sep 30. PMID 1718268

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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?
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Are calcineurin genes associated with endurance phenotype traits?
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 
involved_in protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
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

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)

  1. 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]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    101591604..101594969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    113766356..113769721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96LZ3.3 GenPept UniProtKB/Swiss-Prot:Q96LZ3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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