Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PPP3CB
Previous Symbol	CALNB
Symbol Alias	CALNA2, CNA2, PP2Bbeta
Approved Name	protein phosphatase 3, catalytic subunit, beta isozyme
Previous Name	protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta), "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"
Name Alias	calcineurin A beta, "protein phosphatase 2B, catalytic subunit, beta isoform"
Location	10q22.2
Position	chr10:73436428-73496024, -1
External Links	HGNC: 9315 Entrez Gene: 5532 Ensembl: ENSG00000107758 UCSC: uc001juf.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		3 SNP typed, Median D'=1, Median r<sup>2</sup> =0.77, 1 LD blocks, 0.64 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP.	Negative	Comment on Study
Forero, D. A., 2016	SNP: rs12775630, rs3793663	P-value=0.005. HapMap based haplotype block analysis as well as sliding window haplotype analysis revealed significant associations with NF1 (p=0,01), PPP3CB (p=0005) and PRKAR1A (p=0,03) in the total BP and SZ samples.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 42)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	ISS	360
GO:0005516	calmodulin binding	molecular function	IDA[11005320]; NAS[8524402]	20
GO:0045087	innate immune response	biological process	TAS	49
GO:0005509	calcium ion binding	molecular function	IDA[8524402]	50

GO terms by database search (count: 38)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0048167	regulation of synaptic plasticity	biological process	TAS[21531385]	9
GO:0030018	Z disc	cellular component	IEA	16
GO:0006468	protein phosphorylation	biological process	ISS	42
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0034097	response to cytokine	biological process	IEA	4
GO:0048675	axon extension	biological process	TAS[21531385]	3
GO:0007165	signal transduction	biological process	NAS[8978785]	136
GO:0006470	protein dephosphorylation	biological process	ISS	10
GO:0046983	protein dimerization activity	molecular function	IPI[11005320]	19
GO:0005955	calcineurin complex	cellular component	IDA[22688515]	1
GO:0017156	calcium ion-dependent exocytosis	biological process	ISS	5
GO:0050796	regulation of insulin secretion	biological process	ISS	24
GO:0045893	positive regulation of transcription, DNA-templated	biological process	NAS[8978785]	58
GO:0008144	drug binding	molecular function	IDA[11005320]	21
GO:0031987	locomotion involved in locomotory behavior	biological process	IEA	2
GO:0007507	heart development	biological process	IEA	20
GO:0004722	protein serine/threonine phosphatase activity	molecular function	NAS[8392375]	4
GO:0043029	T cell homeostasis	biological process	IEA	5
GO:0007613	memory	biological process	TAS[21531385]	22
GO:0035176	social behavior	biological process	IEP[21531385]	17
GO:0035690	cellular response to drug	biological process	IDA[11005320]	13
GO:0030346	protein phosphatase 2B binding	molecular function	IDA[2556704]	1
GO:0033192	calmodulin-dependent protein phosphatase activity	molecular function	ISS; TAS[2556704]	1
GO:0005515	protein binding	molecular function	IPI[21903422]	563
GO:0001915	negative regulation of T cell mediated cytotoxicity	biological process	IEA	1
GO:0033173	calcineurin-NFAT signaling cascade	biological process	IDA[22688515]	2
GO:0030217	T cell differentiation	biological process	IEA	3
GO:0019899	enzyme binding	molecular function	IDA[11005320]	34
GO:0042098	T cell proliferation	biological process	NAS[8978785]	5
GO:0051533	positive regulation of NFAT protein import into nucleus	biological process	IDA[22688515]	2
GO:0005829	cytosol	cellular component	TAS	223
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	biological process	ISS	4
GO:0042110	T cell activation	biological process	TAS[11005320]	9
GO:0007612	learning	biological process	TAS[21531385]	18
GO:0030315	T-tubule	cellular component	IEA	8
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[22688515]	91
GO:0016311	dephosphorylation	biological process	TAS[2556704]	14

Gene related KEGG pathways (count: 10)

KEGG pathways by PBA (count: 4)

ID	Name	No. of Genes in BDgene
hsa04720	Long-term potentiation	13
hsa04020	Calcium signaling pathway	53
hsa04010	MAPK signaling pathway	39
hsa04210	Apoptosis	12

KEGG pathways by database search (count: 6)

ID	Name	No. of Genes in BDgene
hsa04360	Axon guidance	16
hsa04662	B cell receptor signaling pathway	8
hsa04370	VEGF signaling pathway	11
hsa04650	Natural killer cell mediated cytotoxicity	13
hsa04660	T cell receptor signaling pathway	13
hsa04310	Wnt signaling pathway	20

Gene related BioCarta pathways (count: 12)

BioCarta pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
pgc1aPathway	Regulation of PGC-1a	4
fMLPpathway	fMLP induced chemokine gene expression in HMC-1 cells	4

BioCarta pathways by database search (count: 10)

ID	Name	No. of Genes in BDgene
tcrPathway	T Cell Receptor Signaling Pathway	7
nfatPathway	NFAT and Hypertrophy of the heart (Transcription in the broken heart)	11
mef2dPathway	Role of MEF2D in T-cell Apoptosis	3
fcer1Pathway	Fc Epsilon Receptor I Signaling in Mast Cells	5
ndkDynaminPathway	Endocytotic role of NDK, Phosphins and Dynamin	3
hdacPathway	Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)	10
calcineurinPathway	Effects of calcineurin in Keratinocyte Differentiation	3
gpcrPathway	Signaling Pathway from G-Protein Families	7
vipPathway	Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells	9
bcrPathway	BCR Signaling Pathway	4

Gene related interactors from protein-protein interactions data in HPRD (count: 8)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PPP3CB	MYOZ3	NO	in vivo	11842093
PPP3CB	NFATC2	NO	in vitro;in vivo	9660947 , 11030334
PPP3CB	SLC8A2	NO	in vivo	15557343
PPP3CB	MYOZ2	NO	in vivo	11114196
PPP3CB	SOCS3	NO	in vitro;in vivo	11970967
PPP3CB	SLC8A3	NO	in vivo	15557343
PPP3CB	SLC8A1	NO	in vivo;yeast 2-hybrid	15557343
PPP3CB	CABIN1	YES	in vivo;yeast 2-hybrid	9655484 , 11714752

Related other genetic factors

Gene related SNPs (count: 13)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs12775630	chr10:73443573 - 73443573(1)	downstream_gene_variant; intron_variant	1(1/0/0)
rs3793663	chr10:73500425 - 73500425(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 11)

rs_ID	Location	Functional Annotation
rs1041532	chr10:73447729 - 73447729(1)	intron_variant
rs12571454	chr10:73449197 - 73449197(1)	intron_variant
rs16930627	chr10:73453758 - 73453758(1)	intron_variant
rs35062653	chr10:73444979 - 73444979(1)	intron_variant
rs12245450	chr10:73461527 - 73461527(1)	intron_variant
rs16930644	chr10:73468031 - 73468031(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs11000666	chr10:73473236 - 73473236(1)	intron_variant; upstream_gene_variant
rs3763679	chr10:73475068 - 73475068(1)	intron_variant; upstream_gene_variant
rs11000672	chr10:73481660 - 73481660(1)	intron_variant
rs11000671	chr10:73480219 - 73480219(1)	intron_variant
rs12569942	chr10:73485494 - 73485494(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
10q22.1-q24.1	chr10:68800000-97500000	1 (1/0/0)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q22	chr10:68800000-80300000	1 (0/1/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
16380905	180	Negative
17360599	180	Negative

Gene relationship with MDD

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Region: chr10:73436428..73496024 View in gBrowse