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	VCL
Approved Name	vinculin
Name Alias	metavinculin
Location	10q22.1-q23
Position	chr10:73995193-74121363, 1
External Links	HGNC: 12665 Entrez Gene: 7414 Ensembl: ENSG00000035403 UCSC: uc001jwd.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: rs71579374	Amish-specific putative damaging exonic missense variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 38)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045296	cadherin binding	molecular function	ISS[20086044]	7
GO:0005886	plasma membrane	cellular component	IEA; ISS	360
GO:0003779	actin binding	molecular function	IDA[16803572]; IDA[7816144]	24
GO:0007155	cell adhesion	biological process	TAS[15501673]	42
GO:0005198	structural molecule activity	molecular function	IEA	14

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[10320934]	563
GO:0005913	cell-cell adherens junction	cellular component	IDA[20086044]	2
GO:0005925	focal adhesion	cellular component	IDA[20086044]; ISS	32
GO:0043234	protein complex	cellular component	IDA[9700171]	27
GO:0007160	cell-matrix adhesion	biological process	TAS[20086044]	11
GO:0005912	adherens junction	cellular component	ISS	4
GO:0007596	blood coagulation	biological process	TAS	44
GO:0030032	lamellipodium assembly	biological process	ISS	6
GO:0030336	negative regulation of cell migration	biological process	TAS[15494027]	12
GO:0002009	morphogenesis of an epithelium	biological process	IMP[20086044]	2
GO:0008013	beta-catenin binding	molecular function	ISS[20086044]	14
GO:0034333	adherens junction assembly	biological process	IMP[20086044]	1
GO:0030055	cell-substrate junction	cellular component	NAS[2116004]	1
GO:0070527	platelet aggregation	biological process	IMP[23382103]	4
GO:0090136	epithelial cell-cell adhesion	biological process	IMP[20086044]	2
GO:0005916	fascia adherens	cellular component	IEA	4
GO:0002162	dystroglycan binding	molecular function	IPI[18341635]	1
GO:0030168	platelet activation	biological process	TAS	22
GO:0002576	platelet degranulation	biological process	TAS	5
GO:0015629	actin cytoskeleton	cellular component	IEA	18
GO:0005576	extracellular region	cellular component	TAS	97
GO:0034394	protein localization to cell surface	biological process	IMP[20086044]	2
GO:0045294	alpha-catenin binding	molecular function	IPI[9700171]	3
GO:0005856	cytoskeleton	cellular component	TAS[16130169]	30
GO:0006928	movement of cell or subcellular component	biological process	TAS[16130169]	7
GO:0048675	axon extension	biological process	IEA	3
GO:0031982	vesicle	cellular component	IDA[24769233]	20
GO:0005911	cell-cell junction	cellular component	ISS	16
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005829	cytosol	cellular component	TAS	223
GO:0006936	muscle contraction	biological process	TAS	10
GO:0043034	costamere	cellular component	IDA[9415431]; ISS	4
GO:0043297	apical junction assembly	biological process	IMP[9700171]	1

Gene related KEGG pathways (count: 4)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04510	Focal adhesion	22

KEGG pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
hsa04520	Adherens junction	11
hsa04670	Leukocyte transendothelial migration	13
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
cell2cellPathway	Cell to Cell Adhesion Signaling	2
integrinPathway	Integrin Signaling Pathway	3
rhoPathway	Rho cell motility signaling pathway	3

Gene related interactors from protein-protein interactions data in HPRD (count: 23)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
VCL	SORBS2	YES	in vitro	10521485
VCL	PRPF40A	NO	yeast 2-hybrid	15231748
VCL	GSN	NO	in vivo	11577104
VCL	RAVER1	YES	in vitro;in vivo;yeast 2-hybrid	11724819
VCL	CORO2B	NO	in vitro;in vivo	10224093
VCL	C19orf57	NO	yeast 2-hybrid	16189514
VCL	TRIP6	NO	yeast 2-hybrid	16189514
VCL	PKD1	NO	in vitro;in vivo	11113628
VCL	ACTN1	NO	in vitro	15988023
VCL	SELE	NO	in vitro	8609175
VCL	CTNNA1	NO	in vitro;in vivo	9700171
VCL	PSME1	NO	yeast 2-hybrid	16169070
VCL	VASP	NO	in vivo;yeast 2-hybrid	10882740
VCL	PRKCA	NO	in vitro;in vivo	11741957
VCL	SORBS1	NO	in vitro;in vivo	10085297 , 17082770
VCL	PTK2	NO	in vivo	10545505
VCL	ABI2	NO	yeast 2-hybrid	16189514
VCL	CDH1	NO	in vitro	9405455
VCL	ACTA1	NO	in vitro	7816144
VCL	SRC	NO	in vitro	15229287
VCL	PXN	NO	in vitro;in vivo	7534286 , 7525621 , 9054445
VCL	TLN1	NO	in vitro	15070891 , 15988023
VCL	NRAP	NO	in vitro	10320340

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs71579374	chr10:74100982 - 74100982(1)	3_prime_UTR_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (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)
10q22.1-q24.1	chr10:68800000-97500000	1 (1/0/0)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q22	chr10:68800000-80300000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr10:73995193..74121363 View in gBrowse