Gene Report

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Basic Info

Approved Symbol	HGFAC
Symbol Alias	HGFAP, HGFA
Approved Name	HGF activator
Location	4p16
Position	chr4:3441887-3449495, 1
External Links	HGNC: 4894 Entrez Gene: 3083 Ensembl: ENSG00000109758 UCSC: uc003ghc.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: rs41264743	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005615	extracellular space	cellular component	IEA	85
GO:0008236	serine-type peptidase activity	molecular function	TAS[8226803]	9
GO:0005576	extracellular region	cellular component	NAS[14718574]	97
GO:0006508	proteolysis	biological process	IEA	34
GO:0004252	serine-type endopeptidase activity	molecular function	IEA	9

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HGFAC	SPINT1	NO	in vitro;in vivo	11013244
HGFAC	KLKB1	NO	in vitro	8226803
HGFAC	F2	NO	in vitro	8226803
HGFAC	HGF	NO	in vitro	8631970
HGFAC	SPINT2	NO	in vitro;in vivo	9346890

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs41264743	chr4:3444352 - 3444352(1)	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

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)
4p16.3	chr4:0-4500000	1 (1/0/0)
Chr 4	chr4:0-190214555	3 (0/3/0)
4p16	chr4:0-11300000	2 (0/1/1)
4p	chr4:0-50000000	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: chr4:3441887..3449495 View in gBrowse