NEFH (neurofilament heavy chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4744
Gene name Gene Name - the full gene name approved by the HGNC.
Neurofilament heavy chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NEFH
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2CC, NFH
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs149955255 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs606231212 CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG>- Not-provided, risk-factor Inframe deletion, coding sequence variant
rs876657411 GA>- Pathogenic Frameshift variant, coding sequence variant
rs876657412 ->AGCC Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
miRTarBase ID miRNA Experiments Reference
MIRT017917 hsa-miR-335-5p Microarray 18185580
MIRT020455 hsa-miR-106b-5p Microarray 17242205
MIRT021571 hsa-miR-142-3p Microarray 17612493
MIRT1179953 hsa-miR-1207-5p CLIP-seq
MIRT1179954 hsa-miR-1909 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(46)
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0005200 Function Structural constituent of cytoskeleton IEA
GO:0005200 Function Structural constituent of cytoskeleton IMP 7536898
GO:0005200 Function Structural constituent of cytoskeleton ISS
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
162230 7737 ENSG00000100285
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P12036
Protein name Neurofilament heavy polypeptide (NF-H) (200 kDa neurofilament protein) (Neurofilament triplet H protein)
Protein function Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF prote
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 96 → 412 Intermediate filament protein Coiled-coil
PF07142 DUF1388 522 → 547 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 536 → 561 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 590 → 610 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 595 → 624 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 624 → 651 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 664 → 692 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 678 → 706 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 692 → 720 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 706 → 734 Repeat of unknown function (DUF1388) Repeat
PF07142 DUF1388 720 → 748 Repeat of unknown function (DUF1388) Repeat
Sequence 
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSA
SPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEA
HNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAH
VRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE
LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRL
SEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASY
QEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF
SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE
EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKS
PAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKS
PEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKS
PEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKE
EAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEA
RSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVK
VKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKK
EEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEK
KDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATED
KAAKGK
Sequence length 1026
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2C rs876657411, rs876657412, rs1602961831 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis type 1, amyotrophic lateral sclerosis N/A N/A ClinVar, GenCC
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 20624930, 40118053
Amyotrophic Lateral Sclerosis Associate 23755159, 25009280, 25957632, 29959860, 30029677, 37612427, 40607881
Ataxia Telangiectasia Associate 40118053
Basal Ganglia Diseases Associate 21278408, 25957632
Breast Neoplasms Associate 25985363
Carcinoma Hepatocellular Associate 24012984, 36042248
Carcinoma Renal Cell Associate 24464810, 35838992
Deafness Associate 30180840
Diffuse Neurofibrillary Tangles with Calcification Associate 21828286
Esophageal Neoplasms Associate 19472401