gene

NEFH

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about NEFH: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

96Connections

0Hypotheses

0Analyses

50Outgoing

37Incoming

Summary

Gene page for NEFH associated with ALS and Charcot-Marie-Tooth disease

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🧬 Gene Info

Gene Symbol	NEFH
Full Name	Neurofilament Heavy Chain
Chromosome	22q12.1
Function	Neurofilament Heavy Chain (NF-H) is the largest neurofilament subunit (approximately 200 kDa) and plays critical roles in neuronal biology
Primary Expression	Large motor neurons, sensory neurons, brain (cortex, hippocampus, cerebellum)
Molecular Weight	200 kDa
Amino Acids	816 aa
Exons	4
UniProt ID	P06744
NCBI Gene ID	4744
Ensembl ID	ENSG00000100133
OMIM	162400
GeneCards	NEFH
Human Protein Atlas	NEFH
Associated Diseases	Aging, Als, Alzheimer, Inflammation, Ms, Neurodegeneration
Interactions	KIF5B, PVALB, AKT1, RANK, P53, AGING
KG Connections	96 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: NEFH — AlphaFold P06744 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    NEFH["NEFH"]
    Neurodegeneration{"Neurodegeneration"}
    NEFH -->|"associated_with"| Neurodegeneration
    Alzheimer{"Alzheimer"}
    NEFH -->|"associated_with"| Alzheimer
    Aging{"Aging"}
    NEFH -->|"associated_with"| Aging
    Inflammation{"Inflammation"}
    NEFH -->|"associated_with"| Inflammation
    Parkinson{"Parkinson"}
    NEFH -->|"associated_with"| Parkinson
    Senescence{"Senescence"}
    NEFH -->|"associated_with"| Senescence
    Ms{"Ms"}
    NEFH -->|"associated_with"| Ms
    Als{"Als"}
    NEFH -->|"associated_with"| Als
    AND["AND"]
    NEFH -->|"associated_with"| AND
    CD9["CD9"]
    NEFH -->|"associated_with"| CD9
    NEURODEGENERATIVE_DISEASES["NEURODEGENERATIVE DISEASES"]
    NEFH -->|"associated_with"| NEURODEGENERATIVE_DISEASES
    ALZHEIMER_S_DISEASE["ALZHEIMER'S DISEASE"]
    NEFH -->|"associated_with"| ALZHEIMER_S_DISEASE
    GSK3B["GSK3B"]
    NEFH -->|"associated_with"| GSK3B
    AKT1["AKT1"]
    NEFH -->|"associated_with"| AKT1
    MTOR["MTOR"]
    NEFH -->|"associated_with"| MTOR

Outgoing (59)

Target	Relation	Type	Str
NEURODEGENERATIVE DISEASES	involved_in	disease	0.95
Amyotrophic Lateral Sclerosis	involved_in	disease	0.90
Cerebral Ischemia	involved_in	disease	0.70
Neurodegeneration	associated_with	disease	0.65
Alzheimer	associated_with	disease	0.65
Aging	associated_with	disease	0.65
Inflammation	associated_with	disease	0.65
Parkinson	associated_with	disease	0.65
Senescence	associated_with	disease	0.65
Ms	associated_with	disease	0.65
Als	associated_with	disease	0.65
Senescence	phosphorylates	disease	0.65
Aging	phosphorylates	disease	0.65
Neurodegeneration	phosphorylates	disease	0.65
CD9	associated_with	gene	0.60
GSK3B	associated_with	gene	0.60
AKT1	associated_with	gene	0.60
MTOR	associated_with	gene	0.60
AKT	associated_with	gene	0.60
KIF5B	associated_with	gene	0.60
CDC42	associated_with	gene	0.60
PVALB	associated_with	gene	0.60
SST	associated_with	gene	0.60
GAP43	associated_with	gene	0.60
MAPT	associated_with	gene	0.60
TAU	associated_with	gene	0.60
AKT1	phosphorylates	gene	0.60
RANK	interacts_with	gene	0.60
NEFL	associated_with	gene	0.60
RANK	therapeutic_target	gene	0.60
TPR	associated_with	gene	0.60
OPTN	associated_with	gene	0.60
SETX	associated_with	gene	0.60
SPG11	associated_with	gene	0.60
TAF15	associated_with	gene	0.60
TARDBP	associated_with	gene	0.60
VAPB	associated_with	gene	0.60
VCP	associated_with	gene	0.60
AND	associated_with	gene	0.60
NEURODEGENERATIVE DISEASES	associated_with	gene	0.60
ALZHEIMER'S DISEASE	associated_with	gene	0.60
NEURODEGENERATION	associated_with	gene	0.60
INFLAMMATION	associated_with	gene	0.60
Pi3K	associated_with	pathway	0.60
Protein Aggregation	associated_with	pathway	0.60
Mtor	associated_with	pathway	0.60
Akt	associated_with	pathway	0.60
P53	phosphorylates	gene	0.60
AGING	phosphorylates	gene	0.60
Mtor	phosphorylates	pathway	0.60

Incoming (37)

Source	Relation	Type	Str
PI3K	associated_with	gene	0.60
TAU	associated_with	gene	0.60
CDK5	associated_with	gene	0.60
MAPT	associated_with	gene	0.60
KIF15	associated_with	gene	0.60
NEFL	associated_with	gene	0.60
AURKB	associated_with	gene	0.60
TPR	associated_with	gene	0.60
RANK	therapeutic_target	gene	0.60
CALM1	associated_with	gene	0.60
CD9	phosphorylates	gene	0.60
CDK5	phosphorylates	gene	0.60
GSK3B	phosphorylates	gene	0.60
CDC42	associated_with	gene	0.60
GAP43	associated_with	gene	0.60
KIF5B	associated_with	gene	0.60
SST	associated_with	gene	0.60
PVALB	associated_with	gene	0.60
ALS2	associated_with	gene	0.60
ANG	associated_with	gene	0.60
DAO	associated_with	gene	0.60
DCTN1	associated_with	gene	0.60
FIG4	associated_with	gene	0.60
FUS	associated_with	gene	0.60
MKI67	associated_with	gene	0.60
AGING	associated_with	gene	0.60
PARKINSON	associated_with	gene	0.60
P53	associated_with	gene	0.60
PARKINSON'S DISEASE	associated_with	gene	0.60
ALZHEIMER	associated_with	gene	0.60
GENES	associated_with	gene	0.60
ALS	associated_with	gene	0.60
KIF15	co_discussed	gene	0.50
RANK	regulates	gene	0.50
KIF15	co_expressed_with	gene	0.50
KIF5B	co_expressed_with	gene	0.50
GENES	regulates	gene	0.50

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

NEFH

Understanding Entity Pages

Summary

Wiki Pages (21)

NEFH — Neurofilament Heavy Chain

RNA Splicing Defects in Neurodegeneration

Neurofilament Heavy Chain (NF-H)

HNRNPH2 Gene

NFM — Neurofilament Medium Chain

Sporadic ALS Initiation Biology: Deep Phenotyping of At-Risk Cohorts

NEFL Gene

Cdk5 (Cyclin-Dependent Kinase 5)

Neurofilament Light Chain Protein

MAPK Signaling Pathways in Neurodegeneration

Neuronal Intermediate Filament Inclusion Bodies in Neurodegeneration

NEFL — Neurofilament Light Chain

Spinal Motor Neurons

Neurofilament Heavy Chain (NfH)

Nucleus of the Brachium of the Superior Colliculus

Layer 5 Pyramidal Tract Neurons

Hypoglossal Nucleus (CN XII) Motor Neurons

NEFH Protein

Spiral Ganglion Neurons