Gene Report

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Basic Info

Approved Symbol	NEFM
Previous Symbol	NEF3
Symbol Alias	NFM, NF-M
Approved Name	neurofilament, medium polypeptide
Previous Name	neurofilament, medium polypeptide 150kDa
Location	8p21
Position	chr8:24913012-24919098, 1
External Links	HGNC: 7734 Entrez Gene: 4741 Ensembl: ENSG00000104722 UCSC: uc003xed.4
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		1 SNP typed, 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: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008017	microtubule binding	molecular function	TAS[17498690]	10
GO:0097418	neurofibrillary tangle	cellular component	IDA[21828286]	1
GO:0005200	structural constituent of cytoskeleton	molecular function	TAS[3608989]	9
GO:0005883	neurofilament	cellular component	IEA	4
GO:0005515	protein binding	molecular function	IPI[20195357]	563
GO:0008088	axon cargo transport	biological process	IEA	2
GO:0033693	neurofilament bundle assembly	biological process	TAS[17498690]	2
GO:0030424	axon	cellular component	TAS[14662745]	39
GO:0000226	microtubule cytoskeleton organization	biological process	IEA	9
GO:0031594	neuromuscular junction	cellular component	IEA	9
GO:1903146	regulation of mitochondrion degradation	biological process	IMP[22020285]	5
GO:0031133	regulation of axon diameter	biological process	IEA	2

Gene related KEGG pathways (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: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NEFM	MINK1	NO	yeast 2-hybrid	15032605
NEFM	STXBP1	NO	in vivo	12963086
NEFM	NEFH	NO	in vitro	2557834

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

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative

Reference	ID in SZGene	Result Category
16380905	309	Negative

Gene relationship with MDD

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Region: chr8:24913012..24919098 View in gBrowse