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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
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NEFH
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    TISSUE

  • CELL

  • PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary

Level of antibody staining/expression





High
Medium
Low
Not detected

GENERAL INFORMATION

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

RNA category

TCGA (cancer tissue):Group enriched (prostate cancer, testis cancer)
HPA (cell line):Cell line enriched (SiHa)
HPA (normal tissue):Tissue enriched (prostate)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

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

ANTIBODY IHC RELIABILITY

Data reliability
description

Antibody staining consistent with RNA expression data.

Reliability score

Supported based on 2 antibodies.
HPA061615 , CAB007786
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PROGNOSTIC SUMMARY

Prognostic marker in breast cancer (favourable).
Breast cancer p<0.001
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RNA EXPRESSION OVERVIEW

TCGA dataset
RNA cancer category: Group enriched (prostate cancer, testis cancer)

PROTEIN EXPRESSION

Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY

HPA061615
CAB007786

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Head and neck cancers along with few cases of breast, colorectal, skin and testis cancers showed weak nuclear staining. Remaining cancer tissues were weakly stained or negative.

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Tumour cells were generally negative.

GENE INFORMATION

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 83.38)

Entrez gene

4744

UniProt

P12036 (UniProt - Evidence at protein level)

neXtProt

NX_P12036

Antibodypedia

NEFH antibodies

PROTEIN BROWSER

NEFH-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NEFH-001
ENSP00000311997
ENST00000310624
P12036 [Direct mapping]
Neurofilament heavy polypeptide
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0001552 [ovarian follicle atresia]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005882 [intermediate filament]
GO:0005883 [neurofilament]
GO:0007409 [axonogenesis]
GO:0007420 [brain development]
GO:0008017 [microtubule binding]
GO:0015643 [toxic substance binding]
GO:0019894 [kinesin binding]
GO:0019901 [protein kinase binding]
GO:0021510 [spinal cord development]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0030031 [cell projection assembly]
GO:0030424 [axon]
GO:0030674 [protein binding, bridging]
GO:0031103 [axon regeneration]
GO:0031175 [neuron projection development]
GO:0033693 [neurofilament bundle assembly]
GO:0034599 [cellular response to oxidative stress]
GO:0042220 [response to cocaine]
GO:0043204 [perikaryon]
GO:0043209 [myelin sheath]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0045110 [intermediate filament bundle assembly]
GO:0045502 [dynein binding]
GO:0046982 [protein heterodimerization activity]
GO:0048936 [peripheral nervous system neuron axonogenesis]
GO:0060052 [neurofilament cytoskeleton organization]
GO:0061564 [axon development]
GO:0071392 [cellular response to estradiol stimulus]
GO:0097418 [neurofibrillary tangle]
GO:0097481 [neuronal postsynaptic density]
GO:1902513 [regulation of organelle transport along microtubule]
GO:1903935 [response to sodium arsenite]
GO:1903937 [response to acrylamide]
Show all
1020 aa
111.8 kDa
No 0

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