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	NF1
Approved Name	neurofibromin 1
Name Alias	neurofibromatosis, "von Recklinghausen disease", "Watson disease"
Location	17q11.2
Position	chr17:31094927-31382116, 1
External Links	HGNC: 7765 Entrez Gene: 4763 Ensembl: ENSG00000196712 UCSC: uc002hgg.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
Forero, D. A., 2016		P-value=0.01. HapMap based haplotype block analysis as well as sliding window haplotype analysis revealed significant associations with NF1 (p=0,01), PPP3CB (p=0005) and PRKAR1A (p=0,03) in the total BP and SZ samples.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 74)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0045765	regulation of angiogenesis	biological process	IMP[17404841]	4
GO:0007420	brain development	biological process	ISS	25
GO:0005634	nucleus	cellular component	ISS[1550670]	283

GO terms by database search (count: 70)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043525	positive regulation of neuron apoptotic process	biological process	ISS	11
GO:0048844	artery morphogenesis	biological process	ISS	6
GO:0043087	regulation of GTPase activity	biological process	IMP[1570015]	5
GO:0046580	negative regulation of Ras protein signal transduction	biological process	IBA	2
GO:0031210	phosphatidylcholine binding	molecular function	IDA[17187824]	1
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	biological process	IEA	1
GO:0008429	phosphatidylethanolamine binding	molecular function	IDA[17187824]	1
GO:0030198	extracellular matrix organization	biological process	ISS	26
GO:0007154	cell communication	biological process	ISS	2
GO:0001953	negative regulation of cell-matrix adhesion	biological process	IEA	3
GO:0005515	protein binding	molecular function	IPI[11356864]	563
GO:0030424	axon	cellular component	IDA[1550670]	39
GO:0048712	negative regulation of astrocyte differentiation	biological process	IEA	5
GO:0048715	negative regulation of oligodendrocyte differentiation	biological process	ISS	3
GO:0008542	visual learning	biological process	ISS	17
GO:0042992	negative regulation of transcription factor import into nucleus	biological process	ISS	2
GO:0030325	adrenal gland development	biological process	ISS	5
GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	biological process	IEA	2
GO:0042060	wound healing	biological process	ISS	9
GO:0048853	forebrain morphogenesis	biological process	ISS	2
GO:0043407	negative regulation of MAP kinase activity	biological process	ISS	4
GO:0007519	skeletal muscle tissue development	biological process	IEA	6
GO:0005730	nucleolus	cellular component	IEA	28
GO:0000165	MAPK cascade	biological process	ISS	10
GO:0005737	cytoplasm	cellular component	IBA; ISS[1550670]	322
GO:0001952	regulation of cell-matrix adhesion	biological process	ISS	2
GO:0043065	positive regulation of apoptotic process	biological process	ISS	25
GO:0001656	metanephros development	biological process	ISS	8
GO:0021915	neural tube development	biological process	IEA	3
GO:0001889	liver development	biological process	ISS	14
GO:0043547	positive regulation of GTPase activity	biological process	IDA[2121371]; IMP[16648142]; ISS	30
GO:0005096	GTPase activator activity	molecular function	IDA[1568247]	19
GO:0045685	regulation of glial cell differentiation	biological process	ISS	1
GO:0048169	regulation of long-term neuronal synaptic plasticity	biological process	IEA	8
GO:0035021	negative regulation of Rac protein signal transduction	biological process	IEA	1
GO:0046929	negative regulation of neurotransmitter secretion	biological process	IEA	1
GO:0001938	positive regulation of endothelial cell proliferation	biological process	IEA	11
GO:0045762	positive regulation of adenylate cyclase activity	biological process	ISS	2
GO:0007265	Ras protein signal transduction	biological process	ISS	7
GO:0043409	negative regulation of MAPK cascade	biological process	IMP[16648142]; ISS	2
GO:0022011	myelination in peripheral nervous system	biological process	ISS	2
GO:0048485	sympathetic nervous system development	biological process	ISS	3
GO:0021510	spinal cord development	biological process	ISS	2
GO:0001937	negative regulation of endothelial cell proliferation	biological process	IMP[16648142]	3
GO:0007406	negative regulation of neuroblast proliferation	biological process	ISS	2
GO:0007422	peripheral nervous system development	biological process	ISS	6
GO:0030036	actin cytoskeleton organization	biological process	ISS	9
GO:0045671	negative regulation of osteoclast differentiation	biological process	IEA	4
GO:0006469	negative regulation of protein kinase activity	biological process	ISS	7
GO:0048593	camera-type eye morphogenesis	biological process	ISS	3
GO:0001649	osteoblast differentiation	biological process	ISS	9
GO:0001666	response to hypoxia	biological process	ISS	24
GO:0045124	regulation of bone resorption	biological process	ISS	1
GO:0014065	phosphatidylinositol 3-kinase signaling	biological process	ISS	5
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	biological process	IEA	5
GO:0030336	negative regulation of cell migration	biological process	IMP[16648142]	12
GO:0021987	cerebral cortex development	biological process	ISS	9
GO:0043535	regulation of blood vessel endothelial cell migration	biological process	IMP[17404841]	1
GO:0030425	dendrite	cellular component	IDA[1550670]	65
GO:0043473	pigmentation	biological process	ISS	5
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane	cellular component	IBA	2
GO:0048147	negative regulation of fibroblast proliferation	biological process	ISS	2
GO:0048745	smooth muscle tissue development	biological process	ISS	3
GO:0021897	forebrain astrocyte development	biological process	ISS	1
GO:0032228	regulation of synaptic transmission, GABAergic	biological process	IEA	5
GO:0030199	collagen fibril organization	biological process	ISS	2
GO:0016525	negative regulation of angiogenesis	biological process	IEA	5
GO:0014044	Schwann cell development	biological process	ISS	2
GO:0007507	heart development	biological process	ISS	20
GO:0050890	cognition	biological process	IMP[17299016]	11

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04010	MAPK signaling pathway	39

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NF1	TBPL1	NO	in vivo	15767669
NF1	APP	NO	in vivo	16374483
NF1	GRIN2D	YES	in vivo	10862698
NF1	DNAJC7	NO	in vivo	8836031
NF1	GRIN1	YES	in vivo	10862698
NF1	SDC2	NO	in vitro;in vivo;yeast 2-hybrid	11356864
NF1	HRAS	NO	in vitro	8628317

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 7)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p12-q21.33	chr17:10800000-52100000	1 (0/1/0)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
17q11-12	chr17:25100000-39800000	1 (0/0/1)
17q11.2	chr17:27400000-33500000	2 (1/1/0)
17q11	chr17:25100000-33500000	2 (2/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr17:31094927..31382116 View in gBrowse