Gene Report

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Basic Info

Approved Symbol	BVES
Symbol Alias	HBVES, POP1, POPDC1
Approved Name	blood vessel epicardial substance
Name Alias	popeye domain containing 1
Location	6q21
Position	chr6:105096822-105137174, -1
External Links	HGNC: 1152 Entrez Gene: 11149 Ensembl: ENSG00000112276 UCSC: uc003pqx.3
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
Fan, J., 2010	SNP: rs13196925	For gene-based test, P-value = 0.22 in STEP1; P-value = 0.01 in NIMH; P-value = 0.016 in STEP1 and NIMH. nominally significant in NIMH sample and pooled sample, but not survive Bonferroni correction test.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005198	structural molecule activity	molecular function	IDA[16188940]	14
GO:0016021	integral component of membrane	cellular component	IDA[16188940]; NAS[10441744]	219
GO:0005886	plasma membrane	cellular component	ISS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043087	regulation of GTPase activity	biological process	ISS	5
GO:0060931	sinoatrial node cell development	biological process	IEA	1
GO:0016192	vesicle-mediated transport	biological process	ISS	10
GO:0008360	regulation of cell shape	biological process	ISS	16
GO:0016328	lateral plasma membrane	cellular component	IDA[16188940]	7
GO:0090136	epithelial cell-cell adhesion	biological process	IDA[16188940]	2
GO:0002027	regulation of heart rate	biological process	IEA	5
GO:0007517	muscle organ development	biological process	NAS[10441744]	11
GO:0030552	cAMP binding	molecular function	IEA	5
GO:0001921	positive regulation of receptor recycling	biological process	ISS	2
GO:0034446	substrate adhesion-dependent cell spreading	biological process	ISS	5
GO:0040017	positive regulation of locomotion	biological process	ISS	1
GO:0002244	hematopoietic progenitor cell differentiation	biological process	IEA	6
GO:0042391	regulation of membrane potential	biological process	IEA	13
GO:0005923	tight junction	cellular component	IDA[16188940]	13

Gene related KEGG pathways (count: 0)

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: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs13196925	chr6:105103354 - 105103354(1)	intron_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
6q16-q21	chr6:100000000-114200000	1 (0/0/1)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q21	chr6:105000000-114200000	4 (1/2/1)
6q14-22	chr6:75200000-130000000	1 (0/0/1)
6q21-22	chr6:105000000-130000000	1 (0/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:105096822..105137174 View in gBrowse