Gene Report

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Basic Info

Approved Symbol	MUC4
Approved Name	mucin 4, cell surface associated
Previous Name	mucin 4, tracheobronchial
Location	3q29
Position	chr3:195746765-195812277, -1
External Links	HGNC: 7514 Entrez Gene: 4585 Ensembl: ENSG00000145113 UCSC: uc021xjp.2
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Strauss, K. A., 2014	Other variant: MUC4_Chr3:195492191_C/A	No significant association was observed between this variant and BD.	Negative	Comment on Study
Schosser, A.,2011	Other variant: rs2550240	No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005887	integral component of plasma membrane	cellular component	TAS[10024507]	158
GO:0016020	membrane	cellular component	NAS[10920259]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030277	maintenance of gastrointestinal epithelium	biological process	IMP[17058067]	1
GO:0043687	post-translational protein modification	biological process	TAS	9
GO:0005578	proteinaceous extracellular matrix	cellular component	NAS[10920259]	19
GO:0006493	protein O-linked glycosylation	biological process	TAS	6
GO:0005176	ErbB-2 class receptor binding	molecular function	TAS[10024507]	2
GO:0016266	O-glycan processing	biological process	TAS	4
GO:0007160	cell-matrix adhesion	biological process	IEA	11
GO:0030197	extracellular matrix constituent, lubricant activity	molecular function	NAS[10920259]	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19199708]	176
GO:0005615	extracellular space	cellular component	IDA[16502470]	85
GO:0031982	vesicle	cellular component	IDA[19190083]	20
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0005796	Golgi lumen	cellular component	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
MUC4	GALNT11	NO	in vitro	11925450
MUC4	ERBB2	YES	in vivo	12434309 , 11687512 , 11598901

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
MUC4_Chr3:195492191_C/A	missense	Exon	1 (0/1/0)
rs2550240			1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q29	chr3:192600000-198295559	2 (1/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:195746765..195812277 View in gBrowse