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

Summary

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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.
Title: A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-53937 (e-PCR)
- UniSTS:16150

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

GDB:314949 (e-PCR)
- UniSTS:156503

D11S3430 (e-PCR)
- UniSTS:152671

G35510 (e-PCR)
- UniSTS:44150

RH36905 (e-PCR)
- UniSTS:87932

RH69407 (e-PCR)
- UniSTS:47302

GDB:313783 (e-PCR)
- UniSTS:13512

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)

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
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
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

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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

35085472..35122298 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060938.1 Alternate T2T-CHM13v2.0

Range

29282404..29319252 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_054376277.1 → XP_054232252.1 serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X2
XM_054376278.1 → XP_054232253.1 serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X3
XM_054376279.1 → XP_054232254.1 serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform X4