Gene Report

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Basic Info

Approved Symbol	CHN1
Previous Symbol	CHN, DURS2
Symbol Alias	RhoGAP2, ARHGAP2, n-chimerin
Approved Name	chimerin 1
Previous Name	Duane retraction syndrome 2, "chimerin (chimaerin) 1"
Name Alias	Chimerin 1 (GTPase-activating protein, rho, 2), "chimaerin 1"
Location	2q31-q32.1
Position	chr2:174799363-175005369, -1
External Links	HGNC: 1943 Entrez Gene: 1123 Ensembl: ENSG00000128656 UCSC: uc002uji.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgieva, L., 2014		A de novo CNV in this gene was detected in BD.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005070	SH3/SH2 adaptor activity	molecular function	TAS[8336731]	3

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0009967	positive regulation of signal transduction	biological process	TAS[8336731]	3
GO:0048013	ephrin receptor signaling pathway	biological process	ISS	11
GO:0005829	cytosol	cellular component	TAS	223
GO:0050770	regulation of axonogenesis	biological process	ISS	7
GO:0005096	GTPase activator activity	molecular function	IEA	19
GO:0043547	positive regulation of GTPase activity	biological process	IEA	30
GO:0005515	protein binding	molecular function	IPI[21516116]	563
GO:0046875	ephrin receptor binding	molecular function	IEA	5
GO:0008045	motor neuron axon guidance	biological process	ISS	3
GO:0007264	small GTPase mediated signal transduction	biological process	TAS	18
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0051056	regulation of small GTPase mediated signal transduction	biological process	TAS	9

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
rac1Pathway	Rac 1 cell motility signaling pathway	6

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHN1	CDK5R1	NO	in vitro;in vivo;yeast 2-hybrid	15013773
CHN1	RPS3A	NO	yeast 2-hybrid	16169070
CHN1	GTF3C1	NO	yeast 2-hybrid	16169070
CHN1	ACVR1	NO	in vivo	15761153
CHN1	TGFBR1	NO	in vivo	15761153
CHN1	BMPR1B	NO	in vivo	15761153
CHN1	CDK5	NO	in vitro;in vivo;yeast 2-hybrid	15013773

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lyudmila Georgieva[2014]_1	chr2:175365518-175813657 (UCSC build 37, hg19)	448139	2q31.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q21-q33	chr2:129100000-208200000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)
2q24-33	chr2:154000000-208200000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:174799363..175005369 View in gBrowse