Gene Report

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Basic Info

Approved Symbol	KNTC1
Symbol Alias	KIAA0166, ROD
Approved Name	kinetochore associated 1
Name Alias	rough deal homolog (Drosophila)
Location	12q24.31
Position	chr12:122527246-122626396, 1
External Links	HGNC: 17255 Entrez Gene: 9735 Ensembl: ENSG00000184445 UCSC: uc001ucv.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
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
Shink, E.,2005(a)	Other variant: KNTC1_GC07E08A, KNTC1_GC07E25A, KNTC1_GC07E57A	We found no polymorphisms associated with bipolar disorder in this gene.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	NAS[11146660]	283
GO:0005886	plasma membrane	cellular component	IDA	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0051301	cell division	biological process	IEA	20
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0015629	actin cytoskeleton	cellular component	IDA	18
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0007093	mitotic cell cycle checkpoint	biological process	IDA[11146660]	5
GO:0000922	spindle pole	cellular component	IDA[11146660]	6
GO:0005828	kinetochore microtubule	cellular component	IDA[11146660]	1
GO:0007067	mitotic nuclear division	biological process	IEA	15
GO:0007096	regulation of exit from mitosis	biological process	NAS[11146660]	1
GO:0000777	condensed chromosome kinetochore	cellular component	IEA	7
GO:0005829	cytosol	cellular component	TAS	223
GO:0006461	protein complex assembly	biological process	NAS[11146660]	11
GO:0005515	protein binding	molecular function	IPI[11146660]	563

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
KNTC1	ZWILCH	NO	in vitro;in vivo	12686595

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 3)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
KNTC1_GC07E25A	point mutation	1 (0/1/0)
KNTC1_GC07E57A	point mutation	1 (0/1/0)
KNTC1_GC07E08A	point mutation	1 (0/1/0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
12q24.3	chr12:120300000-133275309	1 (1/0/0)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q24.31	chr12:120300000-125400000	1 (1/0/0)
12q	chr12:38200000-133851895	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: chr12:122527246..122626396 View in gBrowse