HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
Chromosome 14 Β· 14q13.2
NCBI Gene: 55012Ensembl: ENSG00000092020.12HGNC: HGNC:17485UniProt: Q969Q6
40PubMed Papers
22Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcentrosomenucleoplasmcytosolgonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyneurodegenerative diseaseazoospermiaXY type gonadal dysgenesis-associated anomalies syndrome
✦AI Summary

PPP2R3C encodes the B''gamma regulatory subunit of protein phosphatase 2A (PP2A), functioning primarily as a centrosomal protein that regulates phosphorylation networks critical for development and cellular homeostasis 1. The protein localizes to the distal centriole where it forms a functional partnership with centriolar proteins CEP350 and FOP, counteracting MAP3K1 kinase activity to maintain balanced centrosome function 1. PPP2R3C negatively regulates P-glycoprotein (ABCB1) expression and function through dephosphorylation, affecting multidrug resistance mechanisms 2. Additionally, it serves as a positive regulator of Hedgehog signaling by interacting with Gli proteins and antagonizing MEKK1 kinase activity 3. Clinically, homozygous PPP2R3C variants cause myoectodermal gonadal dysgenesis syndrome (MEGD), characterized by complete gonadal dysgenesis in both 46,XY and 46,XX individuals, along with distinctive facial features and multiple organ system abnormalities 456. Heterozygous variants are associated with impaired spermatogenesis and male infertility 4. The protein's essential role is highlighted by embryonic lethality in homozygous knockout mice 6. PPP2R3C has also been implicated in cancer prognosis and autoimmune conditions 78.

Sources cited
1
PPP2R3C is a distal centriole protein that counteracts MAP3K1 kinase activity and maintains centrosome function
PMID: 39317195
2
PPP2R3C dephosphorylates P-glycoprotein and negatively regulates its expression and function
PMID: 24333728
3
PPP2R3C serves as a positive regulator of Hedgehog signaling by interacting with Gli proteins
PMID: 39173855
4
Homozygous PPP2R3C variants cause syndromic 46,XY gonadal dysgenesis with extragonadal manifestations
PMID: 30893644
5
PPP2R3C-related gonadal dysgenesis affects both XX and XY individuals
PMID: 34750818
6
Homozygous Ppp2r3c knockout results in embryonic lethality in mice
PMID: 34714774
7
PPP2R3C is part of a prognostic signature in lung adenocarcinoma
PMID: 38757752
8
PPP2R3C variants are associated with psoriatic arthritis susceptibility
PMID: 38907550
Disease Associationsβ“˜22
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyOpen Targets
0.70Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
azoospermiaOpen Targets
0.51Moderate
Gonadal dysgenesis, XY type - associated anomaliesOpen Targets
0.37Weak
male infertility due to globozoospermiaOpen Targets
0.37Weak
XY type gonadal dysgenesis-associated anomalies syndromeOpen Targets
0.37Weak
atopic eczemaOpen Targets
0.28Weak
premature birthOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.21Weak
Eczematoid dermatitisOpen Targets
0.19Weak
dermatitisOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.12Weak
trauma complicationOpen Targets
0.03Suggestive
Epidermal Inclusion CystOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
upper respiratory tract disorderOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
AutoimmunityOpen Targets
0.01Suggestive
bacteriemiaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Myoectodermal gonadal dysgenesis syndromeUniProt
Spermatogenic failure 36UniProt
Pathogenic Variants6
NM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser)Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy|Spermatogenic failure 36
β˜…β˜†β˜†β˜†β†’ Residue 350
NM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser)Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy|Spermatogenic failure 36
β˜…β˜†β˜†β˜†β†’ Residue 193
NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro)Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy|Spermatogenic failure 36
β˜…β˜†β˜†β˜†β†’ Residue 103
NM_017917.4(PPP2R3C):c.639_647dup (p.Tyr218_Val219insSerPheTyr)Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
β˜†β˜†β˜†β˜†2022β†’ Residue 218
NM_017917.4(PPP2R3C):c.678CTT[2] (p.Phe229del)Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
β˜†β˜†β˜†β˜†2022β†’ Residue 229
NM_017917.4(PPP2R3C):c.1250G>A (p.Gly417Glu)Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
β˜†β˜†β˜†β˜†2022β†’ Residue 417
View on ClinVar β†—
Related Genes
PPP2R1AProtein interaction100%PPP2R2AProtein interaction100%PPP2R2DProtein interaction99%PPP2CAProtein interaction99%ITIH4Protein interaction97%BCL2Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
99%
Heart
68%
Lung
64%
Ovary
55%
Liver
38%
Gene Interaction Network
Click a node to explore
PPP2R3CPPP2R1APPP2R2APPP2R2DPPP2CAITIH4BCL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q969Q6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.51–0.95]
RankingsWhere PPP2R3C stands among ~20K protein-coding genes
  • #10,225of 20,598
    Most Researched40
  • #3,413of 5,498
    Most Pathogenic Variants6
  • #8,970of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedPPP2R3C
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.
PMID: 39317195
Curr Biol Β· 2024
1.00
2
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.
PMID: 30893644
Eur J Endocrinol Β· 2019
0.90
3
Protein phosphatase complex PP5/PPP2R3C dephosphorylates P-glycoprotein/ABCB1 and down-regulates the expression and function.
PMID: 24333728
Cancer Lett Β· 2014
0.80
4
PP2A phosphatase regulatory subunit PPP2R3C is a new positive regulator of the hedgehog signaling pathway.
PMID: 39173855
Cell Signal Β· 2024
0.70
5
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
PMID: 34750818
Clin Genet Β· 2022
0.60