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

Gene ID: 55012, updated on 12-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (35085472..35122298, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (29282404..29319252, complement)
RS_2024_09 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 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?
  1. A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.
    Title: A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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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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
not available
Spermatogenic failure 36
MedGen: C5193086 OMIM: 618420 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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_2024_08

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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