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

Gene

• Entrez ID: 55012
• Gene name: Protein phosphatase 2 regulatory subunit B''gamma
• Gene symbol: PPP2R3C
• Synonyms (NCBI Gene): C14orf10, G4-1, G5pr, GDRM, MEGD, SPGF36
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 615902
• HGNC: 17485
• e!Ensembl: ENSG00000092020

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	Pathogenic	rs2503015880, rs772361886, rs1307002115, rs1566684983, rs1566411552, rs754106837	RCV002280802 RCV002280803 RCV002280804 RCV000770795 RCV000770797 RCV000770799	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 36	Pathogenic	rs1566684983, rs1566411552, rs754106837	RCV000770796 RCV000770798 RCV000770800	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPP2R3C-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XY TYPE GONADAL DYSGENESIS-ASSOCIATED ANOMALIES SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33482886	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	26482879		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	37147882	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	30893644		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	30893644		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Swyer Syndrome	Swyer Syndrome	BEFREE	30893644		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	30893644		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations