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	DLC1
Symbol Alias	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP
Approved Name	DLC1 Rho GTPase activating protein
Previous Name	deleted in liver cancer 1
Name Alias	StAR-related lipid transfer (START) domain containing 12
Location	8p22
Position	chr8:13083361-13604610, -1
External Links	HGNC: 2897 Entrez Gene: 10395 Ensembl: ENSG00000164741 UCSC: uc003wwm.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Bergen, S. E.,2012	SNP: rs289585	No significant association was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 31)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[17888903]	283

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0051895	negative regulation of focal adhesion assembly	biological process	IDA[19158340]	2
GO:1900119	positive regulation of execution phase of apoptosis	biological process	IDA[17888903]	1
GO:0005829	cytosol	cellular component	IDA[19158340]; TAS	223
GO:0021575	hindbrain morphogenesis	biological process	ISS	2
GO:0003007	heart morphogenesis	biological process	ISS	5
GO:0007264	small GTPase mediated signal transduction	biological process	TAS	18
GO:0048041	focal adhesion assembly	biological process	ISS	4
GO:0032956	regulation of actin cytoskeleton organization	biological process	IMP[17292327]	3
GO:0051056	regulation of small GTPase mediated signal transduction	biological process	TAS	9
GO:0005096	GTPase activator activity	molecular function	IDA[17932950]; IDA[17932950]; IMP[17888903]	19
GO:0032587	ruffle membrane	cellular component	IDA[19158340]	4
GO:0005925	focal adhesion	cellular component	IDA[16951145]	32
GO:0030864	cortical actin cytoskeleton	cellular component	IDA[19158340]	2
GO:0006915	apoptotic process	biological process	IDA[17292327]	39
GO:0043547	positive regulation of GTPase activity	biological process	IDA[17932950]; IMP[17888903]	30
GO:0051497	negative regulation of stress fiber assembly	biological process	IDA[17932950]	2
GO:0008289	lipid binding	molecular function	IEA	8
GO:0030336	negative regulation of cell migration	biological process	IDA[17932950]; IMP[17292327]	12
GO:0001843	neural tube closure	biological process	ISS	8
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IDA[17888903]	7
GO:0035024	negative regulation of Rho protein signal transduction	biological process	IMP[16951145]	2
GO:0030900	forebrain development	biological process	ISS	5
GO:0008360	regulation of cell shape	biological process	IMP[17292327]	16
GO:0005901	caveola	cellular component	IDA[16951145]	11
GO:0030036	actin cytoskeleton organization	biological process	ISS	9
GO:0005515	protein binding	molecular function	IPI[16951145]	563
GO:0005737	cytoplasm	cellular component	IDA[16951145]	322
GO:0042169	SH2 domain binding	molecular function	IPI[17190795]	1
GO:0008285	negative regulation of cell proliferation	biological process	IDA[12545165]; IMP[17292327]	41
GO:0035307	positive regulation of protein dephosphorylation	biological process	IDA[17292327]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DLC1	AKT1	YES	in vivo;yeast 2-hybrid	16338927

Related other genetic factors

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs289585	chr8:13403027 - 13403027(1)	intron_variant	1(0/1/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs185977	chr8:13399217 - 13399217(1)	intron_variant
rs289574	chr8:13398828 - 13398828(1)	intron_variant
rs289581	chr8:13400426 - 13400426(1)	intron_variant
rs289578	chr8:13399581 - 13399581(1)	intron_variant
rs289586	chr8:13403947 - 13403947(1)	intron_variant

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)
8p22	chr8:12800000-19200000	1 (0/0/1)
8pter-p22	chr8:0-19200000	1 (0/1/0)
Chr 8	chr8:0-145138636	3 (0/3/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
22688191	No significant association was observed in SZ.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr8:13083361..13604610 View in gBrowse