NEFH

GENERAL INFORMATION

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Gene name

NEFH

Gene description

Neurofilament, heavy polypeptide

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (prostate)
GTEx:Tissue enhanced (cerebral cortex, prostate)

Protein evidence

Evidence at protein level

Protein localization

Selective expression in CNS, peripheral nerves and glandular cells of prostate.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA061615 , CAB007786
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Prostate



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (prostate)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebral cortex, prostate)

Organ

Expression



GENE INFORMATION

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Gene name

NEFH

Synonyms

Description

Neurofilament, heavy polypeptide (HGNC Symbol)

Entrez gene summary

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]

Chromosome

22

Cytoband

q12.2

Chromosome location (bp)

29480230 - 29491390

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100285 (version 78.38)

Entrez gene

4744

UniProt

P12036 (UniProt - Evidence at protein level)

neXtProt

NX_P12036

Antibodypedia

NEFH antibodies


PROTEIN BROWSER

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ENST00000310624
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NEFH-001 ENSP00000311997
ENST00000310624
P12036
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