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

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55012
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 2 regulatory subunit B''gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP2R3C
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf10, G4-1, G5pr, GDRM, MEGD, SPGF36
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
615902 17485 ENSG00000092020
Protein
Gene SNPs Other IDs Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dermatitis Atopic dermatitis N/A N/A GWAS
Gonadal Dysgenesis gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Spermatogenic Failure spermatogenic failure 36 N/A N/A GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 33482886
Disorder of Sex Development 46 XY Associate 37147882