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	NEFL
Symbol Alias	NFL, CMT1F, CMT2E, NF68, PPP1R110
Approved Name	neurofilament, light polypeptide
Previous Name	neurofilament, light polypeptide 68kDa
Name Alias	protein phosphatase 1, regulatory subunit 110
Location	8p21.2
Position	chr8:24950955-24957110, -1
External Links	HGNC: 7739 Entrez Gene: 4747 Ensembl: ENSG00000277586 UCSC: uc033bfe.1
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
Fallin, M. D.,2005		3 SNP typed, Median D'=1, Median r<sup>2</sup> =0.1, 1 LD blocks, 7.17 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 31)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019904	protein domain specific binding	molecular function	IEA	24
GO:0030674	protein binding, bridging	molecular function	ISS	8
GO:0007268	synaptic transmission	biological process	TAS	116

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005883	neurofilament	cellular component	IDA[15857389]	4
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0000226	microtubule cytoskeleton organization	biological process	IEA	9
GO:0043434	response to peptide hormone	biological process	IEA	9
GO:0030424	axon	cellular component	IDA[14662745]	39
GO:0050772	positive regulation of axonogenesis	biological process	IEA	4
GO:0050885	neuromuscular process controlling balance	biological process	IEA	6
GO:0005200	structural constituent of cytoskeleton	molecular function	IDA[12432080]	9
GO:0019896	axon transport of mitochondrion	biological process	IMP[15857389]	2
GO:0051412	response to corticosterone	biological process	IEA	9
GO:0009636	response to toxic substance	biological process	IEA	12
GO:0048812	neuron projection morphogenesis	biological process	IEA	7
GO:0008090	retrograde axon cargo transport	biological process	IMP[15857389]	1
GO:0042802	identical protein binding	molecular function	IPI[12432080]	44
GO:0014012	peripheral nervous system axon regeneration	biological process	IEA	4
GO:0033596	TSC1-TSC2 complex	cellular component	IDA[12226091]	1
GO:0005515	protein binding	molecular function	IPI[12837694]	563
GO:0051258	protein polymerization	biological process	IEA	3
GO:0031133	regulation of axon diameter	biological process	IEA	2
GO:0045109	intermediate filament organization	biological process	IMP[12432080]	3
GO:0005829	cytosol	cellular component	TAS	223
GO:0005737	cytoplasm	cellular component	ISS	322
GO:0040011	locomotion	biological process	IEA	2
GO:0033693	neurofilament bundle assembly	biological process	IDA[12432080]; IMP[15857389]	2
GO:0043274	phospholipase binding	molecular function	IEA	4
GO:0030426	growth cone	cellular component	IEA	22
GO:0008022	protein C-terminus binding	molecular function	IPI[12226091]	21
GO:0008089	anterograde axon cargo transport	biological process	IMP[15857389]	2

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05030	Amyotrophic lateral sclerosis (ALS)	5

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 13)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NEFL	MTMR2	NO	in vivo;yeast 2-hybrid	12837694
NEFL	SPTAN1	NO	in vitro	1902666 , 3121319
NEFL	PKN1	NO	in vitro;yeast 2-hybrid	8621664
NEFL	CHD3	NO	yeast 2-hybrid	15383276
NEFL	CDK5RAP2	NO	yeast 2-hybrid	16169070
NEFL	MYO5A	NO	in vitro;in vivo	12403814
NEFL	GRIN1	YES	in vitro;yeast 2-hybrid	9425014
NEFL	YWHAG	NO	in vivo	15324660
NEFL	VIM	NO	in vitro;yeast 2-hybrid	15383276
NEFL	PIAS4	YES	yeast 2-hybrid	15383276
NEFL	BRD7	NO	yeast 2-hybrid	15383276
NEFL	NEFH	NO	in vitro	9388258
NEFL	TSC1	NO	in vivo	12226091

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
8p21	chr8:19200000-29000000	2 (0/1/1)
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
16380905	This gene is not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
16380905	310	Negative

Gene relationship with MDD

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Region: chr8:24950955..24957110 View in gBrowse