Gene Report

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Basic Info

Approved Symbol	COL11A2
Previous Symbol	DFNA13, DFNB53
Symbol Alias	HKE5
Approved Name	collagen, type XI, alpha 2
Location	6p21.3
Position	chr6:33162681-33192499, -1
External Links	HGNC: 2187 Entrez Gene: 1302 Ensembl: ENSG00000204248 UCSC: uc003ocx.1
No. of Studies	1 (Positive: 1; Negative: 0; 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
Johnson, C.,2009		Monte-Carlo Simulation P-value = 0.0006. One of Genes That Harbor Overlapping Clusters of 4 Nominally Positive SNPs Whose Allele Frequencies Distinguish Individuals With Bipolar Disorder From Controls With P<0.05 Nominal Significance From at Least Three of the Four Samples in This Analysis	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030674	protein binding, bridging	molecular function	NAS[10677296]	8

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005788	endoplasmic reticulum lumen	cellular component	TAS	8
GO:0051216	cartilage development	biological process	IMP[9188673]	6
GO:0060021	palate development	biological process	IMP[12673280]	6
GO:0030020	extracellular matrix structural constituent conferring tensile strength	molecular function	NAS[7859284]	1
GO:0022617	extracellular matrix disassembly	biological process	TAS	10
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0030199	collagen fibril organization	biological process	IDA[9188673]	2
GO:0005592	collagen type XI trimer	cellular component	NAS[7859284]	1
GO:0060023	soft palate development	biological process	IMP[10677296]	1
GO:0030574	collagen catabolic process	biological process	TAS	4
GO:0007605	sensory perception of sound	biological process	IMP[10581026]	18
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0001501	skeletal system development	biological process	IMP[10677296]; NAS[7859284]	16
GO:0005515	protein binding	molecular function	IPI[17703188]	563
GO:0005576	extracellular region	cellular component	TAS	97

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04510	Focal adhesion	22
hsa04512	ECM-receptor interaction	9

ID	Name	No. of Genes in BDgene	Brief Description
hsa01430	Cell Communication	11

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

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)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p21	chr6:30500000-46200000	1 (0/1/0)
6p23-p21.1	chr6:13400000-46200000	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: chr6:33162681..33192499 View in gBrowse