Gene Report

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Basic Info

Approved Symbol	CABIN1
Symbol Alias	KIAA0330, PPP3IN
Approved Name	calcineurin binding protein 1
Location	22q11.23
Position	chr22:24011192-24178628, 1
External Links	HGNC: 24187 Entrez Gene: 23523 Ensembl: ENSG00000099991 UCSC: uc002zzi.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		7 SNP typed, Median D'=0.99, Median r<sup>2</sup> =0.46, 1 LD blocks, 0.75 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in BP.. This gene is suggestive to BP , not suggestive to SZ/SZA.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043086	negative regulation of catalytic activity	biological process	NAS[9655484]	5
GO:0006336	DNA replication-independent nucleosome assembly	biological process	IDA[14718166]	1
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0016568	chromatin modification	biological process	IEA	5
GO:0016235	aggresome	cellular component	IDA	3
GO:0004864	protein phosphatase inhibitor activity	molecular function	NAS[9655484]	2
GO:0007166	cell surface receptor signaling pathway	biological process	NAS[9655484]	23

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
mef2dPathway	Role of MEF2D in T-cell Apoptosis	3
hdacPathway	Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)	10

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CABIN1	MEF2D	NO	in vivo	15902271
CABIN1	MEF2B	NO	in vivo;yeast 2-hybrid	10531067 , 12700764
CABIN1	YWHAQ	YES	in vivo	15902271
CABIN1	AMPH	NO	in vitro;in vivo	10931822
CABIN1	DNM1	NO	in vivo	10931822
CABIN1	PPP3CC	YES	in vivo	11714752
CABIN1	PPP3CA	NO	in vivo	11714752
CABIN1	CALM1	NO	in vitro	15902271

Related other genetic factors

Gene related SNPs (count: 0)

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)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

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

Gene relationship with SZ

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

Gene relationship with MDD

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Region: chr22:24011192..24178628 View in gBrowse