Gene Report

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Basic Info

Approved Symbol	MUC16
Symbol Alias	CA125, FLJ14303
Approved Name	mucin 16, cell surface associated
Location	19p13.2
Position	chr19:8848844-8981342, -1
External Links	HGNC: 15582 Entrez Gene: 94025 Ensembl: ENSG00000181143 UCSC: uc002mkp.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
Georgi, B., 2014	SNP: rs201826382, rs76869876	Amish-specific putative damaging exonic missense variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IEA	360
GO:0007155	cell adhesion	biological process	NAS[14676194]	42
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[14676194]	563
GO:0019898	extrinsic component of membrane	cellular component	IDA[12766047]	8
GO:0006493	protein O-linked glycosylation	biological process	TAS	6
GO:0031982	vesicle	cellular component	IDA[19190083]	20
GO:0016266	O-glycan processing	biological process	TAS	4
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0005615	extracellular space	cellular component	IEA	85
GO:0005796	Golgi lumen	cellular component	TAS	9
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19199708]	176
GO:0043687	post-translational protein modification	biological process	TAS	9

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MUC16	LGALS1	NO	in vitro;in vivo	12615972
MUC16	MSLN	NO	in vitro	14676194

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs76869876	chr19:8949151 - 8949151(1)	missense_variant	1(0/0/1)
rs201826382	chr19:8956561 - 8956561(1)	missense_variant	1(0/0/1)

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)
19p13-q13	chr19:0-58617616	1 (0/1/0)
Chr 19	chr19:0-58617616	2 (0/2/0)
19p13	chr19:0-19900000	2 (0/1/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr19:8848844..8981342 View in gBrowse