Gene Report

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Basic Info

Approved Symbol	GFAP
Symbol Alias	FLJ45472
Approved Name	glial fibrillary acidic protein
Name Alias	intermediate filament protein
Location	17q21
Position	chr17:44905008-44916937, -1
External Links	HGNC: 4235 Entrez Gene: 2670 Ensembl: ENSG00000131095 UCSC: uc002ihq.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ament, S. A., 2015		P-value=0.0044, OR=11.8. No individual gene had a significant burden of segregating rare variants in BD pedigrees after correcting for multiple tests, although several genes had suggestive trends.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IEA	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005882	intermediate filament	cellular component	IEA	8
GO:0097450	astrocyte end-foot	cellular component	IEA	1
GO:0010625	positive regulation of Schwann cell proliferation	biological process	IEA	1
GO:0019900	kinase binding	molecular function	IEA	8
GO:0005515	protein binding	molecular function	IPI[16189514]	563
GO:0060291	long-term synaptic potentiation	biological process	IEA	14
GO:0005200	structural constituent of cytoskeleton	molecular function	IEA	9
GO:0031102	neuron projection regeneration	biological process	IEA	3
GO:0010977	negative regulation of neuron projection development	biological process	IEA	4
GO:0044297	cell body	cellular component	IEA	4
GO:0005737	cytoplasm	cellular component	IDA[12355421]	322
GO:0005829	cytosol	cellular component	TAS	223
GO:0005178	integrin binding	molecular function	IEA	8
GO:0051580	regulation of neurotransmitter uptake	biological process	IEA	1
GO:0045109	intermediate filament organization	biological process	IEA	3
GO:0030198	extracellular matrix organization	biological process	IEA	26
GO:0060020	Bergmann glial cell differentiation	biological process	IEA	1
GO:0009611	response to wounding	biological process	IEA	9
GO:0014002	astrocyte development	biological process	IEA	3

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01510	Neurodegenerative Diseases	10
hsa05060	Prion disease	7

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 19)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GFAP	PDZK1	NO	yeast 2-hybrid	16189514
GFAP	PDLIM1	NO	yeast 2-hybrid	16189514
GFAP	KIAA0408	NO	yeast 2-hybrid	16189514
GFAP	PSEN1	NO	in vitro;yeast 2-hybrid	12058025
GFAP	CEP76	NO	yeast 2-hybrid	16189514
GFAP	S100A1	NO	in vitro	10510252
GFAP	PDLIM7	NO	yeast 2-hybrid	16189514
GFAP	SH3YL1	NO	yeast 2-hybrid	16189514
GFAP	POM121	NO	yeast 2-hybrid	16189514
GFAP	SRC	NO	in vivo	11379820
GFAP	VIM	NO	yeast 2-hybrid	16189514
GFAP	ROCK1	NO	in vitro;in vivo	9099667 , 2155236 , 7822264 , 2114109
GFAP	GRAP2	NO	yeast 2-hybrid	16189514
GFAP	TUBGCP4	NO	yeast 2-hybrid	16189514
GFAP	MEN1	NO	in vitro;in vivo	12169273
GFAP	PRKCA	NO	in vitro;in vivo	2155236 , 9099667 , 7822264 , 2114109
GFAP	RIBC2	NO	yeast 2-hybrid	16189514
GFAP	PRKACA	NO	in vitro;in vivo	2155236 , 9099667 , 7822264 , 2114109
GFAP	CDK1	NO	in vitro;in vivo	7822264 , 12177195

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)
17p12-q21.33	chr17:10800000-52100000	1 (0/1/0)
17q21	chr17:39800000-52100000	1 (0/1/0)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
17893707	626	Negative

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
21912391	genes significantly affected in female MDD subjects	Pos	GFAP
23415275		Neg	GFAP

View in gBrowse

Region: chr17:44905008..44916937 View in gBrowse