NEFH (neurofilament heavy chain)

2010-10-01 Affiliation

Identity

HGNC

NEFH

LOCATION

22q12.2

LOCUSID

4744

ALIAS

CMT2CC,NFH

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4744
MIM: 162230
HGNC: 7737
Ensembl: ENSG00000100285

Variants:

dbSNP: 4744
ClinVar: 4744
TCGA: ENSG00000100285
COSMIC: NEFH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100285	ENST00000310624	P12036

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Amyotrophic lateral sclerosis (ALS)	KEGG	ko05014
Amyotrophic lateral sclerosis (ALS)	KEGG	hsa05014

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36200879	2023	Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.	2
36200879	2023	Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.	2
34518334	2022	Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.	6
35091664	2022	An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.	3
36042248	2022	Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.	3
34518334	2022	Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.	6
35091664	2022	An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.	3
36042248	2022	Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.	3
32780247	2021	A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.	5
33609080	2021	Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study.	7
33895854	2021	Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.	6
32780247	2021	A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.	5
33609080	2021	Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study.	7
33895854	2021	Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.	6
33020509	2020	Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells.	4

Citation

Dessen P

NEFH (neurofilament heavy chain)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51698/nefh-(neurofilament-heavy-chain)