Gene Report

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Basic Info

Approved Symbol	FIG4
Previous Symbol	KIAA0274
Symbol Alias	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J
Approved Name	FIG4 phosphoinositide 5-phosphatase
Previous Name	KIAA0274, "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"
Location	6q21
Position	chr6:109691312-109825428, 1
External Links	HGNC: 16873 Entrez Gene: 9896 Ensembl: ENSG00000112367 UCSC: uc003ptt.2
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		For gene-based test, P-value = 0.16 in STEP1; P-value = 0.03 in NIMH; P-value = 0.032 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: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010008	endosome membrane	cellular component	IDA[17556371]	17
GO:0032288	myelin assembly	biological process	IEA	1
GO:0016311	dephosphorylation	biological process	IEA	14
GO:0005783	endoplasmic reticulum	cellular component	IEA	49
GO:0031642	negative regulation of myelination	biological process	IEA	3
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0048666	neuron development	biological process	IEA	7
GO:0006644	phospholipid metabolic process	biological process	TAS	18
GO:0010976	positive regulation of neuron projection development	biological process	IEA	10
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	biological process	TAS	5
GO:0031902	late endosome membrane	cellular component	TAS	5
GO:0055037	recycling endosome	cellular component	IEA	14
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	molecular function	IEA	1
GO:0005515	protein binding	molecular function	IPI[17556371]	563
GO:0004438	phosphatidylinositol-3-phosphatase activity	molecular function	IEA	2
GO:0031901	early endosome membrane	cellular component	TAS	8
GO:0043813	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	molecular function	TAS	1
GO:0043473	pigmentation	biological process	IEA	5
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0007033	vacuole organization	biological process	IEA	1
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0006661	phosphatidylinositol biosynthetic process	biological process	TAS	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: 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: chr6:109691312..109825428 View in gBrowse