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    PPP2R3C protein phosphatase 2 regulatory subunit B''gamma [ Homo sapiens (human) ]

    Gene ID: 55012, updated on 3-Apr-2024

    Summary

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    Official Symbol
    PPP2R3Cprovided by HGNC
    Official Full Name
    protein phosphatase 2 regulatory subunit B''gammaprovided by HGNC
    Primary source
    HGNC:HGNC:17485
    See related
    Ensembl:ENSG00000092020 MIM:615902; AllianceGenome:HGNC:17485
    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
    G4-1; G5pr; GDRM; MEGD; SPGF36; C14orf10
    Summary
    This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Broad expression in testis (RPKM 18.2), bone marrow (RPKM 7.6) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See PPP2R3C in Genome Data Viewer
    Location:
    14q13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (35085472..35122298, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (29282404..29319252, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (35554678..35591504, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35451517-35452218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8259 Neighboring gene signal recognition particle 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8262 Neighboring gene family with sequence similarity 177 member A1 Neighboring gene uncharacterized LOC101927178 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:35571935-35572102 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:35581755-35582536 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:35590400-35591599 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35591739-35592658 Neighboring gene PRORP-PSMA6 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35622091-35622592 Neighboring gene protein only RNase P catalytic subunit Neighboring gene ribosomal protein L23a pseudogene 70 Neighboring gene septin 7 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Altunoglu U, et al. Clin Genet, 2022 Feb. PMID 34750818
    2. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. Cicek D, et al. Eur J Endocrinol, 2021 Dec 1. PMID 34714774, Free PMC Article
    3. PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. Guran T, et al. Eur J Endocrinol, 2019 May 1. PMID 30893644
    4. Transgenic overexpression of G5PR that is normally augmented in centrocytes impairs the enrichment of high-affinity antigen-specific B cells, increases peritoneal B-1a cells, and induces autoimmunity in aged female mice. Kitabatake M, et al. J Immunol, 2012 Aug 1. PMID 22753944
    5. Protein phosphatase complex PP5/PPP2R3C dephosphorylates P-glycoprotein/ABCB1 and down-regulates the expression and function. Katayama K, et al. Cancer Lett, 2014 Apr 1. PMID 24333728

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
      Title: Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
    2. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
      Title: Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
    3. findings suggest that protein phosphatase 2 regulatory subunit B (PPP2R3C) is involved in the ontogeny of multiple organs, especially critical for testis development and spermatogenesis
      Title: PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.
    4. Knockdown of PP5 and/or PPP2R3C increased P-gp expression and lowered the sensitivity to vincristine and doxorubicin. Consequently, results indicate that PP5/PPP2R3C negatively regulates P-gp expression and function.
      Title: Protein phosphatase complex PP5/PPP2R3C dephosphorylates P-glycoprotein/ABCB1 and down-regulates the expression and function.
    5. G5PR expression is markedly augmented in the centrocytes of germinal centers after immunization of transgenic mice with T cell-dependent antigen.
      Title: Transgenic overexpression of G5PR that is normally augmented in centrocytes impairs the enrichment of high-affinity antigen-specific B cells, increases peritoneal B-1a cells, and induces autoimmunity in aged female mice.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
    MedGen: C5193085 OMIM: 618419 GeneReviews: Not available
    		Compare labs
    Spermatogenic failure 36
    MedGen: C5193086 OMIM: 618420 GeneReviews: Not available
    		Compare labs

    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

    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

    Clone Names

    • FLJ20644

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in T cell homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cortical cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of B cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of antimicrobial humoral response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spleen development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma
    Names
    protein phosphatase 2 (formerly 2A), regulatory subunit B''
    protein phosphatase 2, regulatory subunit B'', gamma
    protein phosphatase subunit G5PR
    rhabdomyosarcoma antigen MU-RMS-40.6A
    rhabdomyosarcoma antigen Mu-RMS-40.6C

    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_001305155.2 → NP_001292084.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 2

      See identical proteins and their annotated locations for NP_001292084.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in its 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AA603611, AY157304, BC063438
      UniProtKB/Swiss-Prot
      Q969Q6
      Conserved Domains (1) summary
      cd21505
      Location:3 → 327
      PPP2R3C; serine/threonine protein phosphatase 2A regulatory subunit B" subunit gamma

    2. NM_001305156.2 → NP_001292085.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 2

      See identical proteins and their annotated locations for NP_001292085.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and lacks an alternate internal exon in its 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AA603611, AK293717
      UniProtKB/Swiss-Prot
      Q969Q6
      Conserved Domains (1) summary
      cd21505
      Location:3 → 327
      PPP2R3C; serine/threonine protein phosphatase 2A regulatory subunit B" subunit gamma

    3. NM_017917.4 → NP_060387.2  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 1

      See identical proteins and their annotated locations for NP_060387.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY157304
      Consensus CDS
      CCDS9654.1
      UniProtKB/Swiss-Prot
      B4DEN7, D3DS97, D3DS98, Q5GJ55, Q5GJ56, Q6P4G2, Q86TZ3, Q969Q6, Q9NWR9
      Related
      ENSP00000261475.5, ENST00000261475.10
      Conserved Domains (1) summary
      pfam17958
      Location:184 → 258
      EF-hand_13; EF-hand domain

    RNA

    1. NR_130972.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC100021, BX248043
      Related
      ENST00000553273.5

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      35085472..35122298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267782.5 → XP_005267839.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X1

      See identical proteins and their annotated locations for XP_005267839.1

      UniProtKB/Swiss-Prot
      B4DEN7, D3DS97, D3DS98, Q5GJ55, Q5GJ56, Q6P4G2, Q86TZ3, Q969Q6, Q9NWR9
      Conserved Domains (1) summary
      pfam17958
      Location:184 → 258
      EF-hand_13; EF-hand domain

    2. XM_024449638.2 → XP_024305406.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X2

      Conserved Domains (1) summary
      cd21505
      Location:25 → 406
      PPP2R3C; serine/threonine protein phosphatase 2A regulatory subunit B" subunit gamma

    3. XM_024449639.2 → XP_024305407.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X3

    4. XM_047431517.1 → XP_047287473.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X4

      Related
      ENSP00000450716.1, ENST00000554361.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      29282404..29319252 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376276.1 → XP_054232251.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X1

      UniProtKB/Swiss-Prot
      B4DEN7, D3DS97, D3DS98, Q5GJ55, Q5GJ56, Q6P4G2, Q86TZ3, Q969Q6, Q9NWR9

    2. XM_054376277.1 → XP_054232252.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X2

    3. XM_054376278.1 → XP_054232253.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X3

    4. XM_054376279.1 → XP_054232254.1  serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969Q6.1 GenPept UniProtKB/Swiss-Prot:Q969Q6

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