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	PPP3CA	NO	in vivo	11714752
CABIN1	AMPH	NO	in vitro;in vivo	10931822
CABIN1	DNM1	NO	in vivo	10931822
CABIN1	PPP3CC	YES	in vivo	11714752
CABIN1	MEF2B	NO	in vivo;yeast 2-hybrid	10531067 , 12700764
CABIN1	CALM1	NO	in vitro	15902271
CABIN1	YWHAQ	YES	in vivo	15902271
CABIN1	MEF2D	NO	in vivo	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