Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	DST
Previous Symbol	BPAG1
Symbol Alias	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2
Approved Name	dystonin
Previous Name	bullous pemphigoid antigen 1, 230/240kDa
Location	6p12.1
Position	chr6:56457987-56954628, -1
External Links	HGNC: 1090 Entrez Gene: 667 Ensembl: ENSG00000151914 UCSC: uc021zba.2
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
McQuillin, A.,2011		Gene related CNV occurred in two or more cases but not in controls.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 40)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA	283
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0003779	actin binding	molecular function	IEA	24
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0007155	cell adhesion	biological process	IEA	42

GO terms by database search (count: 35)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016023	cytoplasmic membrane-bounded vesicle	cellular component	IDA[14581450]	16
GO:0005882	intermediate filament	cellular component	IEA	8
GO:0015629	actin cytoskeleton	cellular component	IDA[10428034]; IDA[10428034]	18
GO:0005938	cell cortex	cellular component	IEA	7
GO:0045104	intermediate filament cytoskeleton organization	biological process	IEP[11751855]; ISS; NAS[11375975]	2
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:0000226	microtubule cytoskeleton organization	biological process	IDA[10428034]	9
GO:0030018	Z disc	cellular component	IDA[19932097]; IEA	16
GO:0030056	hemidesmosome	cellular component	IDA[12482924]; TAS[11375975]	1
GO:0031581	hemidesmosome assembly	biological process	IDA[12482924]	2
GO:0005635	nuclear envelope	cellular component	IEA	10
GO:0007229	integrin-mediated signaling pathway	biological process	NAS[11375975]	4
GO:0005737	cytoplasm	cellular component	IDA; ISS	322
GO:0005604	basement membrane	cellular component	TAS[2461961]	5
GO:0009925	basal plasma membrane	cellular component	NAS[11375975]	3
GO:0009611	response to wounding	biological process	IDA[19403692]	9
GO:0045111	intermediate filament cytoskeleton	cellular component	IDA[10428034]	2
GO:0015630	microtubule cytoskeleton	cellular component	IDA	12
GO:0005178	integrin binding	molecular function	IPI[11375975]	8
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0005829	cytosol	cellular component	TAS	223
GO:0035371	microtubule plus-end	cellular component	IDA[19632184]	2
GO:0005515	protein binding	molecular function	IPI[12482924]	563
GO:0008022	protein C-terminus binding	molecular function	IPI[11375975]	21
GO:0007050	cell cycle arrest	biological process	IEA	10
GO:0030011	maintenance of cell polarity	biological process	IMP[19403692]	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0051010	microtubule plus-end binding	molecular function	IDA[19632184]	2
GO:0042803	protein homodimerization activity	molecular function	IDA[19932097]	71
GO:0007010	cytoskeleton organization	biological process	IMP[19403692]	11
GO:0030424	axon	cellular component	IDA[10428034]; IEA	39
GO:0048870	cell motility	biological process	IMP[19403692]	3
GO:0031673	H zone	cellular component	IEA	1
GO:0031252	cell leading edge	cellular component	IDA[19403692]	3
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 9)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DST	ITGB4	NO	in vivo;yeast 2-hybrid	10637308 , 14668477
DST	KRT14	NO	yeast 2-hybrid	12802069
DST	DCTN1	NO	in vivo	14581450
DST	KRT5	NO	yeast 2-hybrid	12802069
DST	COL17A1	NO	in vivo;yeast 2-hybrid	12482924 , 10637308
DST	ERBB2IP	NO	in vitro;yeast 2-hybrid	11375975
DST	SMAD9	NO	yeast 2-hybrid	15231748
DST	KIAA1549	NO	yeast 2-hybrid	12421765
DST	CELSR3	NO	yeast 2-hybrid	12421765

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_McQuillin[2011]_9	chr6:56430743-56816422 (NCBI Build 36 (hg18))	385680

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
6p12-q13	chr6:46200000-75200000	1 (0/1/0)
Chr 6	chr6:0-170805979	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:56457987..56954628 View in gBrowse