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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 da... See more...
Aliases for NEFH Gene
Aliases for NEFH Gene
External Ids for NEFH Gene
- HGNC: 7737
- NCBI Entrez Gene: 4744
- Ensembl: ENSG00000100285
- OMIM®: 162230
- UniProtKB/Swiss-Prot: P12036
Previous GeneCards Identifiers for NEFH Gene
- GC22P026572
- GC22P028191
- GC22P028200
- GC22P029876
- GC22P012839
Summaries for NEFH 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 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]
GeneCards Summary for NEFH Gene
NEFH (Neurofilament Heavy) is a Protein Coding gene. Diseases associated with NEFH include Charcot-Marie-Tooth Disease, Axonal, Type 2Cc and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include protein kinase binding and microtubule binding.
UniProtKB/Swiss-Prot Summary for NEFH Gene
-
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 proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).
Additional gene information for NEFH Gene
- HGNC (7737)
- NCBI Entrez Gene (4744)
- Ensembl (ENSG00000100285)
- OMIM® (162230)
- UniProtKB/Swiss-Prot (P12036)
- Open Targets Platform(ENSG00000100285)
- Monarch Initiative
- Search for NEFH at DataMed
- Search for NEFH at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEFH Gene
Genomics for NEFH Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NEFH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NEFH on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEFH
- Top Transcription factor binding sites by QIAGEN in the NEFH gene promoter:
-
- AhR
- AML1a
- Arnt
- GR
- GR-alpha
- p53
- Pax-5
- SRF
- SRF (504 AA)
Genomic Locations for NEFH Gene
Latest Assembly
- chr22:29,480,218-29,491,390
- (GRCh38/hg38)
- Size:
- 11,173 bases
- Orientation:
- Plus strand
Previous Assembly
- chr22:29,876,207-29,887,379
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 11,173 bases
- Orientation:
- Plus strand
- chr22:29,876,219-29,887,379
- (GRCh37/hg19 by Ensembl)
- Size:
- 11,161 bases
- Orientation:
- Plus strand
Genomic View for NEFH Gene
Genes around NEFH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.2 by HGNC
- 22q12.2 by Entrez Gene
- 22q12.2 by Ensembl
NEFH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NEFH Gene
Proteins for NEFH Gene
-
Protein details for NEFH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12036-NFH_HUMAN
- Recommended name:
- Neurofilament heavy polypeptide
- Protein Accession:
- P12036
- B4DYY4
- Q96HF8
- Q9UJS7
- Q9UQ14
Protein attributes for NEFH Gene
- Size:
- 1026 amino acids
- Molecular mass:
- 112479 Da
- Quaternary structure:
-
- Forms heterodimers with NEFL; which can further hetero-oligomerize (in vitro) (By similarity). Forms heterodimers with INA (in vitro) (By similarity).
- SequenceCaution:
-
- Sequence=BAA74868.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG63896.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for NEFH Gene
Post-translational modifications for NEFH Gene
- There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
- Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.
- Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for NEFH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences NEFH / NF-H Antibody and NEFH / NF-H Monoclonal Antibody
- GeneTex Anti-NF-H antibody [GT114] and Anti-NF-H antibody
-
BioLegend
- Purified anti-Neurofilament H (NF-H) (822601)
- Anti-Neurofilament H Phospho (NF-H)
- Purified anti-Neurofilament H (NF-H), Nonphosphorylated (801701)
- Anti-Neurofilament H (NF-H) (835801)
- Anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835602)
- Purified anti-Neurofilament H (NF-H), Phosphorylated (801601)
- Anti-Neurofilament H (NF-H) (835901)
- Anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835601)
- Purified anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835604)
- Purified anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837704)
- Purified anti-Neurofilament H (NF-H), Phosphorylated (835503)
- Purified anti-Neurofilament H (NF-H), Phosphorylated (835703)
- Purified anti-Neurofilament H (NF-H) (835804)
- Purified anti-Neurofilament H (NF-H) (835904)
- Biotin anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated
- Biotin anti-Neurofilament H (NF-H), Phosphorylated
- Biotin anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated
- Alexa Fluor(R) 594 anti-Neurofilament H (NF-H), Phosphorylated (801609)
- Alexa Fluor(R) 594 anti-Neurofilament H (NF-H), Phosphorylated (801610)
- HRP anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837707)
- HRP anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837708)
- Alexa Fluor(R) 594 anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835610)
- HRP anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835608)
- Alexa Fluor(R) 594 anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835609)
- HRP anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835607)
- Purified anti-Neurofilament H (NF-H) (835803)
- Purified anti-Neurofilament H (NF-H), Phosphorylated (801602)
- Purified anti-Neurofilament H (NF-H), Phosphorylated (835704)
- Purified anti-Neurofilament H (NF-H), Nonphosphorylated (801702)
- Purified anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837703)
- Purified anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835603)
- Purified anti-Neurofilament H (NF-H) (835903)
- Purified anti-Neurofilament H & M (NF-H/NF-M), Non-Phosphorylated (835404)
- Purified anti-Neurofilament H & M (NF-H/NF-M), Non-Phosphorylated (835403)
- Alexa Fluor(R) 488 anti-Neurofilament H (NF-H), Nonphosphorylated (801705)
- Alexa Fluor(R) 488 anti-Neurofilament H (NF-H), Nonphosphorylated (801706)
- HRP anti-Neurofilament H (NF-H), Nonphosphorylated (801708)
- Alexa Fluor(R) 594 anti-Neurofilament H (NF-H), Nonphosphorylated (801709)
- HRP anti-Neurofilament H (NF-H), Nonphosphorylated (801707)
- Alexa Fluor(R) 594 anti-Neurofilament H (NF-H), Nonphosphorylated (801710)
- Purified anti-Neurofilament H (NF-H), Phosphorylated (835504)
- HRP anti-Neurofilament H (NF-H), Phosphorylated (801606)
- HRP anti-Neurofilament H (NF-H), Phosphorylated (801605)
- Alexa Fluor(R) 647 anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837710)
- Alexa Fluor(R) 647 anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835612)
- Alexa Fluor(R) 647 anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835611)
- Alexa Fluor(R) 647 anti-Neurofilament H (NF-H), Nonphosphorylated (801711)
- Alexa Fluor(R) 647 anti-Neurofilament H (NF-H), Nonphosphorylated (801712)
- Alexa Fluor(R) 647 anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837709)
- Alexa Fluor(R) 488 anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835613)
- Alexa Fluor(R) 488 anti-Neurofilament H & M (NF-H/NF-M), Hypophosphorylated (835614)
- Alexa Fluor(R) 488 anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837712)
- Alexa Fluor(R) 488 anti-Neurofilament H & M (NF-H/NF-M), Phosphorylated (837711)
- Alexa Fluor(R) 647 anti-Neurofilament H (NF-H), Phosphorylated (801614)
- Alexa Fluor(R) 488 anti-Neurofilament H (NF-H), Phosphorylated (801611)
- Alexa Fluor(R) 488 anti-Neurofilament H (NF-H), Phosphorylated (801612)
- Alexa Fluor(R) 647 anti-Neurofilament H (NF-H), Phosphorylated (801613)
-
Custom Antibody ServicesOriGene Antibodies for NEFH
- Novus Biologicals Antibodies for NEFH
-
Abcam antibodies for NEFH
- Invitrogen Antibodies for NEFH (AFLGC-NEFH)
-
Custom Antibody ServicesProSci Antibodies for NEFH
- neurofilament, heavy polypeptide [23-587]
- neurofilament, heavy polypeptide [34-146]
- neurofilament, heavy polypeptide [33-179]
- neurofilament, heavy polypeptide [33-180]
- neurofilament, heavy polypeptide [33-543]
- neurofilament, heavy polypeptide [51-560]
- neurofilament, heavy polypeptide [70-041]
- neurofilament, heavy polypeptide [70-043]
-
Santa Cruz Biotechnology (SCBT) Antibodies for NEFH
- Sino Biological Antibodies for NEFH
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for NEFH
- Origene Custom Protein Services for NEFH
- Novus Biologicals proteins for NEFH
- antibodies-online: Show 9 available NEFH Proteins ranked by validation data
- Compare Top NEFH Proteins
-
Quality Products:
-
Abcam proteins for NEFH
No data available for DME Specific Peptides for NEFH Gene
Domains & Families for NEFH Gene
Gene Families for NEFH Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for NEFH Gene
- InterPro:
- Blocks:
-
- Intermediate filament protein
- Protein of unknown function DUF1388
- ProtoNet:
Suggested Antigen Peptide Sequences for NEFH Gene
- GenScript: Design optimal peptide antigens:
-
- Neurofilament triplet H protein (NFH_HUMAN)
- Neurofilament heavy subunit (Q16070_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P12036- Family:
-
- Belongs to the intermediate filament family.
Function for NEFH Gene
Molecular function for NEFH Gene
- UniProtKB/Swiss-Prot 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 proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).
- GENATLAS Biochemistry:
- neurofilament,heavy polypeptide (200kDa),with a deletion of the tail primarily involved in uncommon forms of amyotrophic lateral sclerosis
Phenotypes From GWAS Catalog for NEFH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005200 | structural constituent of cytoskeleton | ISS | -- |
| GO:0005515 | protein binding | IPI | 32814053 |
| GO:0008017 | microtubule binding | TAS | 17498690 |
| GO:0019894 | kinesin binding | TAS | 17498690 |
| GO:0019901 | protein kinase binding | IPI | 9313898 |
Phenotypes for NEFH Gene
- MGI mutant phenotypes for NEFH:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for NEFH:
Animal Models for NEFH Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NEFH - Starting at $85 >
- * NEFH CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NEFH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NEFH
-
Santa Cruz Biotechnology (SCBT) CRISPR for NEFH
miRNA for NEFH Gene
- miRTarBase miRNAs that target NEFH
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NEFH
- Browse OriGene Inhibitory RNA Products For NEFH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEFH
Clone products for research
- Applied Biological Materials (abm): Clones for NEFH - Starting at $45 >
- * NEFH as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NEFH
- Addgene plasmids for NEFH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NEFH
Cell Lines for research
-
Horizon Cell Lines for NEFH
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NEFH Gene
Localization for NEFH Gene
Subcellular locations from UniProtKB/Swiss-Prot for NEFH Gene
- Cytoplasm, cytoskeleton. Cell projection, axon.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| mitochondrion | 3 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,ISS | -- |
| GO:0005856 | cytoskeleton | IDA | 24327345 |
| GO:0005882 | intermediate filament | IEA | -- |
| GO:0005883 | neurofilament | NAS | 3138108 |
| GO:0014069 | postsynaptic density | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEFH Gene
Pathways & Interactions for NEFH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pathways of neurodegeneration - multiple diseases | ||
| 2 | Neuroscience | ||
| 3 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Neurofilaments
.32
|
|
| 4 | Amyotrophic lateral sclerosis (ALS) | ||
| 5 | Association Between Physico-Chemical Features and Toxicity Associated Pathways | ||
Pathways by source for NEFH Gene
2 BioSystems pathways for NEFH Gene
2 KEGG pathways for NEFH Gene
1 GeneGo (Thomson Reuters) pathway for NEFH Gene
- Cytoskeleton remodeling Neurofilaments
1 Cell Signaling Technology pathway for NEFH Gene
Interacting Proteins for NEFH Gene
Selected Interacting proteins:
P12036-NFH_HUMAN
ENSP00000311997
for NEFH Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for NEFH
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000226 | microtubule cytoskeleton organization | IEA | -- |
| GO:0007409 | axonogenesis | TAS | 17498690 |
| GO:0030031 | cell projection assembly | TAS | 17498690 |
| GO:0033693 | neurofilament bundle assembly | IMP | 7536898 |
| GO:0045104 | intermediate filament cytoskeleton organization | IEA | -- |
Transcripts for NEFH Gene
mRNA/cDNA for NEFH Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000310624 3795 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NEFH - Starting at $85 >
- * NEFH CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NEFH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NEFH
-
Santa Cruz Biotechnology (SCBT) CRISPR for NEFH
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NEFH
- Browse OriGene Inhibitory RNA Products For NEFH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEFH
Clone products for research
- Applied Biological Materials (abm): Clones for NEFH - Starting at $45 >
- * NEFH as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NEFH
- Addgene plasmids for NEFH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NEFH
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: |
Relevant External Links for NEFH Gene
- GeneLoc Exon Structure for
- NEFH
Expression for NEFH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Myoblasts Mandibular Arch Muscles
- Myoblasts Hyoid Arch Muscles
- Neurons
- Brain (Nervous System)
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Hematopoietic Stem Cells Liver Bud
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
-
Blood (Cardiovascular System)
- Hematopoietic Stem Cells Liver Bud
- Pancreas (Endocrine System)
- Spinal Cord (Nervous System)
- Motor Neurons (Nervous System)
-
Prostate (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for NEFH Gene
This gene is overexpressed in Prostate (x9.2), Brain - Substantia nigra (x6.3), Brain - Frontal Cortex (BA9) (x5.6), Brain - Anterior cingulate cortex (BA24) (x4.5), Brain - Cortex (x4.4), and Brain - Hypothalamus (x4.2).
This gene is overexpressed in Spinal cord (55.7) and Frontal cortex (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEFH Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEFH
SOURCE GeneReport for Unigene cluster for NEFH Gene:
Hs.198760Evidence on tissue expression from TISSUES for NEFH Gene
- Nervous system(4.9)
- Eye(4.6)
- Liver(4.5)
- Heart(3)
- Intestine(3)
- Kidney(2.8)
- Lung(2.7)
- Blood(2.7)
- Gall bladder(2.7)
- Adrenal gland(2.7)
- Skin(2.5)
- Pancreas(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NEFH Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- epiglottis
- face
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- bronchus
- clavicle
- esophagus
- heart
- lung
- scapula
- trachea
Abdomen:
- biliary tract
- liver
- stomach
Limb:
- arm
- digit
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- shin
- shoulder
- thigh
- toe
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer products for research
-
OriGene qPCR primer pairs for NEFH
Gene Expression Assays for research
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NEFH Gene
Orthologs for NEFH Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NEFH 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NEFH 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NEFH 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nefh 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Nefh 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NEFH 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | NEFH 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NEFH 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | nefmb 31 |
|
ManyToMany | |
| CABZ01079764.1 31 |
|
ManyToMany | |||
| ngs 31 |
|
ManyToMany | |||
| si:dkey-27m7.4 31 |
|
ManyToMany | |||
| zgc:136930 31 |
|
ManyToMany | |||
| wu:fb15e04 31 |
|
ManyToMany | |||
| zgc:172323 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | ifa-1 31 |
|
ManyToMany | |
| ifa-4 31 |
|
ManyToMany | |||
| mua-6 31 |
|
ManyToMany | |||
| ifa-3 31 |
|
ManyToMany | |||
| ifb-1 31 |
|
ManyToMany | |||
| ifb-2 31 |
|
ManyToMany | |||
| ifd-2 31 |
|
ManyToMany | |||
| ifc-1 31 |
|
ManyToMany | |||
| ifd-1 31 |
|
ManyToMany | |||
| ifc-2 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| CSA.10989 31 |
|
ManyToMany | |||
| CSA.8134 31 |
|
ManyToMany |
- Species where no ortholog for NEFH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for NEFH Gene
- ENSEMBL:
- Gene Tree for NEFH (if available)
- TreeFam:
- Gene Tree for NEFH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NEFH: view image
Paralogs for NEFH Gene
(7) SIMAP similar genes for NEFH Gene using alignment to 2 proteins:
- NFH_HUMAN
- Q16070_HUMAN
Pseudogenes.org Pseudogenes for NEFH Gene
No data available for Paralogs for NEFH Gene
Variants for NEFH Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for NEFH Gene
- NFH_HUMAN-P12036
- The number of repeats is shown to vary between 29 and 30.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEFH Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 870692 | Pathogenic: not provided | 29,490,693(+) |
A/AG NM_021076.4(NEFH):c.3057dup (p.Lys1020fs) |
FRAMESHIFT | |
| 956117 | Uncertain Significance: not provided | 29,489,103(+) |
G/A NM_021076.4(NEFH):c.1463G>A (p.Gly488Glu) |
MISSENSE | |
| 976269 | Uncertain Significance: Amyotrophic lateral sclerosis type 1 | 29,489,015(+) |
GAACA/G NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs) |
FRAMESHIFT | |
| 981024 | Uncertain Significance: Amyotrophic lateral sclerosis | 29,489,649(+) |
T/A NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) |
MISSENSE | |
| 988500 | Likely Pathogenic: not provided | 29,490,695(+) |
G/GGGAA NM_021076.4(NEFH):c.3057_3060dup (p.Ter1021GluextTer?) |
STOP_LOST,FRAMESHIFT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3647536 | CNV | gain | 21293372 |
| esv3893473 | CNV | loss | 25118596 |
| nsv1062039 | CNV | gain | 25217958 |
| nsv1110864 | OTHER | inversion | 24896259 |
| nsv438344 | CNV | loss | 16468122 |
| nsv524511 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.82;
86.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NEFH Gene
SNP Genotyping and Copy Number Assays for research
Disorders for NEFH Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, axonal, type 2cc |
|
|
| amyotrophic lateral sclerosis 1 |
|
|
| lateral sclerosis |
|
|
| hereditary motor and sensory neuropathy, type iic |
|
|
| motor neuron disease |
|
|
Search NEFH in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NFH_HUMAN- Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:7849698}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- Charcot-Marie-Tooth disease 2CC (CMT2CC) [MIM:616924]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:27040688}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for NEFH
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for NEFH Gene
Publications for NEFH Gene
- Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. (PMID: 27040688) Rebelo AP … Zuchner S (American journal of human genetics 2016) 3 4 74
- Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PMID: 19054571) Gregório SP … Dias-Neto E (Psychiatry research 2009) 3 41
- Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein. (PMID: 18635547) Rudrabhatla P … Pant HC (The Journal of biological chemistry 2008) 3 23
- Detection of phosphorylated NF-H in the cerebrospinal fluid and blood of aneurysmal subarachnoid hemorrhage patients. (PMID: 18319731) Lewis SB … Shaw G (Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2008) 3 23
- Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons. (PMID: 17626162) Kesavapany S … Pant HC (Molecular biology of the cell 2007) 3 23
ExternalLinks
Products for NEFH Gene
- Custom Antibody ServicesOriGene Antibodies for NEFH
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- Invitrogen Antibodies for NEFH (AFLGC-NEFH)
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- VectorBuilder Virus packaging for NEFH CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NEFH
- Addgene plasmids for NEFH
- antibodies-online: Show 84 available NEFH Antibodies ranked by validation data
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- antibodies-online: Show 9 available NEFH Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for NEFH
- Search Santa Cruz Biotechnology (SCBT) for NEFH siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NEFH
- Custom Antibody ServicesProSci Antibodies for NEFH
- neurofilament, heavy polypeptide [23-587]
- neurofilament, heavy polypeptide [34-146]
- neurofilament, heavy polypeptide [33-179]
- neurofilament, heavy polypeptide [33-180]
- neurofilament, heavy polypeptide [33-543]
- neurofilament, heavy polypeptide [51-560]
- neurofilament, heavy polypeptide [70-041]
- neurofilament, heavy polypeptide [70-043]
- Search for NEFH Proteins at ProSci
- Horizon Cell Lines for NEFH
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NEFH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NEFH
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NEFH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEFH
Sources for NEFH Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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- (36) Pseudogene
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- (50) miRBase
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
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