NEFH Gene

Aliases
for NEFH gene

Previous GC identifers: GC22P026572 GC22P028191 GC22P028200 GC22P012839

Summaries
for NEFH gene

Genomic Views
for NEFH gene

RefSeq DNA sequence:

NC_000022.10  NC_018933.1  NT_011520.12  

SwitchGear Promoter luciferase reporter plasmid: NEFH promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NEFH

NEFH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P029876:  view genomic region     (about GC identifiers)

Proteins
for NEFH gene

Explore the universe of human proteins at neXtProt for NEFH: NX_P12036

Post-translational modifications:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: NEFH OriGene Custom Protein Services for NEFH
	GenScript Custom Purified and Recombinant Proteins Services for NEFH
	Novus Biologicals NEFH Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NEFH

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of NEFH
	R&D Systems Antibodies for NEFH (NF-H)
	Cell Signaling Technology (CST) Antibodies for NEFH  (NFH)
	OriGene Antibodies (see all 3): NEFH OriGene Custom Antibody Services for NEFH
	GenScript Superior Antibodies for NEFH
	Novus Biologicals NEFH Antibodies
	Abcam antibodies for NEFH
	Uscn Antibodies for NEFH
	ThermoFisher Antibody for NEFH

	EMD Millipore Kits and Assays for the Analysis of NEFH
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for NEFH
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NEFH

Protein Domains /
Families
for NEFH gene

ProtoNet protein and cluster: P12036

Function
for NEFH gene

miRNA Products:		OriGene 3'-UTR Clone: NEFH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEFH
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate NEFH (see all 11):
		hsa-miR-3910 hsa-miR-92a hsa-miR-137 hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-3617 hsa-miR-4325
		SwitchGear 3'UTR luciferase reporter plasmid: NEFH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEFH (see all 7) OriGene shRNA RFP: NEFH OriGene siRNA: NEFH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NEFH

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for NEFH

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NEFH (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NEFH OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NEFH (NM_021076)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEFH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEFH

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NEFH
		Search LifeMap BioReagents cell lines for NEFH

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFH

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

(inferred from 5 alleles) (MGI details for Nefh)

Pathways & Interactions
for NEFH gene

	Super-pathway	contained gene-specific pathways
1	Cytoskeleton remodeling Neurofilaments	Cytoskeleton remodeling Neurofilaments 1.00 Cytoskeleton remodeling_Neurofilaments 0.91
2	Neuroscience	Neuroscience 1.00
3	Pathogenesis of ALS	Amyotrophic lateral sclerosis (ALS) 0.30

1 EMD Millipore Pathway for NEFH

Cytoskeleton remodeling Neurofilaments

1 Cell Signaling Technology (CST) Pathway for NEFH

Neuroscience

1 GeneGo (Thomson Reuters) Pathway for NEFH

Cytoskeleton remodeling Neurofilaments

1         Kegg Pathway  (Kegg details for NEFH)

Amyotrophic lateral sclerosis (ALS)

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

Drugs & Compounds
for NEFH gene

Transcripts
for NEFH gene

Expression
for NEFH gene

NEFH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGAATGCCA

1 LifeMap In Vivo Development Anatomical Compartment/Cell
	Tissue Anatomical Compartment Cell			Category (developmental path)
	EyeOuter Nuclear LayerMature Rod Cells			Photoreceptors, Retina
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell
	Name			Category
	PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NEFH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NEFH
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NEFH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEFH

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFH

Orthologs
for NEFH gene

Paralogs
for NEFH gene

Paralogs for NEFH gene

LMNB1²  SYNM²  VIM²  INA²  LMNA²  NES²  PRPH²  DES²  

NEFM²  LMNB2²  GFAP²  

8 SIMAP similar genes for NEFH using alignment to 2 protein entries:     NFH_HUMAN (see all proteins):

INA    KRT5    DES    tmp_locus_29    NEFM    KRT7

KRT8    KRT19

NEFH for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for NEFH
PGOHUM00000244157 PGOHUM00000247536

Genomic Variants
for NEFH gene

10/321 NCBI SNPs in NEFH are shown (see all 321)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs608259781,2	C,	untested	12840810(+)	GCTCCA/GGCGCC	2	S G	mis1		0	--	--	--	--
rs1499552551,2	C,F,	untested	12843346(+)	AGGACC/AGTCAT	2	/S /R	mis1		2		NA EU	5603
rs2014169551,2	C	untested	12845574(+)	TGGCCA/GCCCAG	2	T A	mis1		0	--	--	--	--
rs593710991,2	C,F,	untested	12848824(+)	CAGAGG/AAGACC	2	/K /E	mis1		4		NS NA EU	5893
rs57632691,2	C,F,H,	untested	12849281(+)	GTCACC/TGGCTG	2	P L	mis1 ese3		9		NS EA NA WA	5128
rs1656021,2	C,F,O,A,H,	untested	12849869(+)	GAAGGA/CGGATG	2	E A	mis1 ese3		29		MN NS EA NA WA CSA EU	8081
rs1656251,2	C,F,O,A,H,	untested	29886413(+)	GAGGTG/AGCCAA	2	/V	syn1		32		NS EA NA MN WA CSA EU	8566
rs1656491,2	C,F,A,H,	--	12838065(+)	AGGGCA/GAAGAG	1	--	us2k1 trp3		17		MN NS EA NA	2300
rs72923801,2	C,F,A,H,	--	12838228(+)	AAGGGC/GGTCTC	1	--	us2k1		8		NS EA WA CSA	542
rs1658231,2	C,	--	12838569(+)	AATGTC/GACAGC	1	--	us2k1		6		MN NA	490

HapMap Linkage Disequilibrium report for NEFH (29876181 - 29887379 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NEFH
     1 CNV: 2024
Human Gene Mutation Database (HGMD): NEFH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NEFH

DNA2.0 Custom Variant and Variant Library Synthesis for NEFH

Disorders / Diseases
for NEFH gene

20/32 diseases for NEFH

7 Novoseek disease relationships for NEFH gene    About this table

Publications
for NEFH gene

PubMed articles for NEFH gene, integrated from 9 sources (see all 108): (articles sorted by number of sources associating them with NEFH)

Utopia: connect your pdf to the dynamic world of online information

1. Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). (PubMed id 14722583)^{1, 4} Skvortsova V....Limborska S. (2004)
2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
3. [Association of homozygosity for short allele (S) of heavy neurofilament subunit gene with motor neuron disease and oxidative stress development] (PubMed id 12674703)^{1, 4} Skvortsova V.I....Botvinko T.M. (2003)
4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)^{1, 2} Nagase T....Ohara O. (1998)
5. PKN associates and phosphorylates the head-rod domain of neurofilament protein. (PubMed id 8621664)^{1, 2} Mukai H....Ono Y. (1996)
6. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. (PubMed id 7849698)^{1, 2} Figlewicz D.A.... Julien J.-P. (1994)
7. The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it. (PubMed id 3138108)^{1, 2} Lees J.F.... Lazzarini R.A. (1988)
8. Phosphorylation state of the native high-molecular-weight neurofilament subunit protein from cervical spinal cord in sporadic amyotrophic lateral sclerosis. (PubMed id 11238716)^{1, 9} Strong M.J....Pant H.C. (2001)
9. Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein. (PubMed id 18635547)^{1, 9} Rudrabhatla P....Pant H.C. (2008)
10. Detection of phosphorylated NF-H in the cerebrospinal fluid and blood of aneurysmal subarachnoid hemorrhage patients. (PubMed id 18319731)^{1, 9} Lewis S.B....Shaw G. (2008)

External Searches for NEFH gene

Genome Databases showing NEFH gene

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Specialized Databases showing NEFH gene

Products
for NEFH gene