Gene Report

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Basic Info

Approved Symbol	PPP2R2C
Symbol Alias	PR52, IMYPNO, MGC33570, PR55G
Approved Name	protein phosphatase 2, regulatory subunit B, gamma
Previous Name	protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform, "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"
Name Alias	PP2A subunit B isoform gamma
Location	4p16.1
Position	chr4:6320578-6563600, -1
External Links	HGNC: 9306 Entrez Gene: 5522 Ensembl: ENSG00000074211 UCSC: uc011bwd.2
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Borsotto, M., 2007	Haplotype: PPP2R2C_Intron1d_99-24169/139 - PPP2R2C_Intron4_24-247/216((99-24169/139)-(24-247/216)), PPP2R2C_Intron5_24-257/320 - PPP2R2C_Intron5_99-24175/218((24-257/320)-(99-24175/218)) Other variant: PPP2R2C_Intron4_24-247/216, PPP2R2C_Intron5_24-257/320, PPP2R2C_Intron1d_99-24169/139, PPP2R2C_Intron5_99-24175/218	Single nucleotide polymorphisms and risk haplotypes for the PPP2R2C gene are associated to BD in two different populations. The PP2A-Bgamma subunit significantly increases the current generated by KCNQ2wt, a channel normally inhibited by phosphorylation.	Positive	Comment on Study
Xu, W., 2014	SNP: rs4688994, rs4689410	We also see suggestive association at rs4689410, within the PPP2R2C gene on 4p16.1 (p = 5.96E-6), which was previously reported to be associated to bipolar disorder.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007165	signal transduction	biological process	IEA	136
GO:0050790	regulation of catalytic activity	biological process	IEA; NAS[10945473]	11
GO:0008601	protein phosphatase type 2A regulator activity	molecular function	NAS[10945473]	5
GO:0000159	protein phosphatase type 2A complex	cellular component	NAS[10945473]	5
GO:0005515	protein binding	molecular function	IPI[19156129]	563

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in BDgene
hsa04530	Tight junction	18
hsa04730	Long-term depression	15
hsa04350	TGF-beta signaling pathway	10

ID	Name	No. of Genes in BDgene	Brief Description
hsa04310	Wnt signaling pathway	20

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4688994	chr4:6334400 - 6334400(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4689410	chr4:6342477 - 6342477(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs7441490	chr4:6343311 - 6343311(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4689408	chr4:6340486 - 6340486(1)	intron_variant; non_coding_transcript_variant
rs4689407	chr4:6340013 - 6340013(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
PPP2R2C_Intron5_99-24175/218	point mutation	Intron5	1 (1/0/0)
PPP2R2C_Intron1d_99-24169/139	point mutation	Intron1d	1 (1/0/0)
PPP2R2C_Intron4_24-247/216	point mutation	Intron4	1 (1/0/0)
PPP2R2C_Intron5_24-257/320	point mutation	Intron5	1 (1/0/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 4	chr4:0-190214555	3 (0/3/0)
4p16.1	chr4:6000000-11300000	2 (0/2/0)
4p16	chr4:0-11300000	2 (0/1/1)
4p	chr4:0-50000000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr4:6320578..6563600 View in gBrowse