Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55012
Gene name	Protein phosphatase 2 regulatory subunit B''gamma
Gene symbol	PPP2R3C
Synonyms (NCBI Gene)	C14orf10G4-1G5prGDRMMEGDSPGF36
Chromosome	14
Chromosome location	14q13.2
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

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019852	hsa-miR-375	Microarray	20215506
MIRT1257767	hsa-miR-103a	CLIP-seq
MIRT1257768	hsa-miR-107	CLIP-seq
MIRT1257769	hsa-miR-4484	CLIP-seq
MIRT1257770	hsa-miR-4666-5p	CLIP-seq
MIRT1257771	hsa-miR-548an	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0001782	Process	B cell homeostasis	IBA
GO:0001782	Process	B cell homeostasis	IEA
GO:0002759	Process	Regulation of antimicrobial humoral response	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016604	Component	Nuclear body	IDA
GO:0030865	Process	Cortical cytoskeleton organization	IBA
GO:0035303	Process	Regulation of dephosphorylation	IEA
GO:0043029	Process	T cell homeostasis	IBA
GO:0043029	Process	T cell homeostasis	IEA
GO:0045579	Process	Positive regulation of B cell differentiation	IBA
GO:0045579	Process	Positive regulation of B cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048536	Process	Spleen development	IEA
GO:0050864	Process	Regulation of B cell activation	IEA
GO:0051900	Process	Regulation of mitochondrial depolarization	IEA

MIM	HGNC	e!Ensembl
615902	17485	ENSG00000092020

Q969Q6

Protein name

Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma (Protein phosphatase subunit G5PR) (Rhabdomyosarcoma antigen MU-RMS-40.6A/6C)

Protein function

May regulate MCM3AP phosphorylation through phosphatase recruitment (By similarity). May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (PubMed:24333728). May play a r

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17958	EF-hand_13	173 → 259	EF-hand domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in brain and other tissues. {ECO:0000269|PubMed:12167160, ECO:0000269|PubMed:15820313}.

Sequence

MDWKEVLRRRLATPNTCPNKKKSEQELKDEEMDLFTKYYSEWKGGRKNTNEFYKTIPRFY
YRLPAEDEVLLQKLREESRAVFLQRKSRELLDNEELQNLWFLLDKHQTPPMIGEEAMINY
ENFLKVGEKAGAKCKQFFTAKVFAKLLHTDSYGRISIMQFFNYVMRKVWLHQTRIGLSLY
DVAGQGYLRESDLENYILELIPTLPQLDGLEKSFYSFYVCTAVRKFFFFLDPLRTGKIKI
QDILACSFLDDLLELRDEELSKESQETNWFSAPSALRVYGQYLNLDKDHNGMLSKEELSR
YGTATMTNVFLDRVFQECLTYDGEMDYKTYLDFVLALENRKEPAALQYIFKLLDIENKGY
LNVFSLNYFFRAIQELMKIHGQDPVSFQDVKDEIFDMVKPKDPLKISLQDLINSNQGDTV
TTILIDLNGFWTYENREALVANDSENSADLDDT

Sequence length

453

Interactions

View interactions

	KEGG
	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway AMPK signaling pathway Adrenergic signaling in cardiomyocytes T cell receptor signaling pathway Dopaminergic synapse Human papillomavirus infection

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	Pathogenic	rs2503015880, rs772361886, rs1307002115, rs1566684983, rs1566411552, rs754106837	RCV002280802 RCV002280803 RCV002280804 RCV000770795 RCV000770797 RCV000770799
Spermatogenic failure 36	Pathogenic	rs1566684983, rs1566411552, rs754106837	RCV000770796 RCV000770798 RCV000770800

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
PPP2R3C-related disorder	Benign; Likely benign	rs1056879, rs146678865, rs201794373	RCV003984106 RCV003914201 RCV003931531

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Rheumatoid	Associate	33482886
Disorder of Sex Development 46 XY	Associate	37147882

PPP2R3C (protein phosphatase 2 regulatory subunit B''gamma)