Gene Report

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Basic Info

Approved Symbol	PARVB
Symbol Alias	CGI-56
Approved Name	parvin, beta
Name Alias	affixin
Location	22q13.2-q13.33
Position	chr22:43999211-44172949, 1
External Links	HGNC: 14653 Entrez Gene: 29780 Ensembl: ENSG00000188677 UCSC: uc003bem.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
Drago, A., 2016		Freq(Significant SNPs/total SNPs%)=0.02. Encodes for a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003779	actin binding	molecular function	IEA	24
GO:0007155	cell adhesion	biological process	IEA	42
GO:0005886	plasma membrane	cellular component	IEA	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030031	cell projection assembly	biological process	IMP[15005707]	1
GO:0005515	protein binding	molecular function	IPI[18325335]	563
GO:0071963	establishment or maintenance of cell polarity regulating cell shape	biological process	IMP[15005707]	1
GO:0005925	focal adhesion	cellular component	IDA[22869380]	32
GO:0005829	cytosol	cellular component	TAS	223
GO:0030027	lamellipodium	cellular component	IDA[18325335]	9
GO:0030018	Z disc	cellular component	IEA	16
GO:0005856	cytoskeleton	cellular component	IEA	30
GO:0031532	actin cytoskeleton reorganization	biological process	IMP[15005707]	8
GO:0034329	cell junction assembly	biological process	TAS	8
GO:0030032	lamellipodium assembly	biological process	IMP[18325335]	6

Gene related KEGG pathways (count: 1)

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

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
PARVB	ILK	NO	in vitro;in vivo;yeast 2-hybrid	15467740 , 11402068
PARVB	ARHGEF6	NO	in vitro;yeast 2-hybrid	12499396

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q12.3-13.32	chr22:31800000-49100000	1 (0/1/0)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	1 (1/0/0)
22q13	chr22:37200000-50818468	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr22:43999211..44172949 View in gBrowse