NGF
Chr 1ARnerve growth factor
Also known as: Beta-NGF, HSAN5, NGFB
NGF encodes nerve growth factor, a secreted protein essential for the development and maintenance of sympathetic and sensory nervous systems that functions as a ligand for neurotrophin receptors. Mutations cause hereditary sensory and autonomic neuropathy type 5 (HSAN5), which follows autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI = 0.82, LOEUF = 0.53), reflecting its critical role in nervous system function.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 6 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 3 | 104 | 4 | 1 | 112 |
Likely Benign | 0 | 3 | 4 | 54 | 61 |
Benign | 0 | 1 | 5 | 2 | 8 |
Conflicting | — | 11 | |||
| Total | 4 | 108 | 20 | 57 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NGF · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
GDNF Gene Therapy for Parkinson's Disease
ACTIVE NOT RECRUITINGA Combined Multidomain Intervention to Prevent Cognitive Decline Associated With Cardiovascular Risk Factors.
RECRUITINGEffect of Esketamine on Postoperative Sleep in Postmenopausal Women
NOT YET RECRUITINGBiomarkers in Tumor Tissue Samples From Patients With Newly Diagnosed Neuroblastoma or Ganglioneuroblastoma
ACTIVE NOT RECRUITINGMolecular Hydrogen Inhalation: Effects on Health, Exercise Capacity and Inflammatory Response - in Vivo/in Vitro Studies
NOT YET RECRUITINGStudy of BDNF Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington's Disease
RECRUITINGNext-gen Flow Cytometry to Find Immune Profiles, Treatment Response, and Toxicity Markers in Skin Cancer Patients Treated With Cemiplimab.
RECRUITINGRepurposing Mirtazapine in Rett Syndrome
RECRUITINGEffects of Specific Amino Acid Supplementation and Lifestyle Factors on Brain Ageing
RECRUITINGThe Added Value of Transcranial Direct Current Stimulation (tDCS) During Exercise for People With Chronic Widespread Pain
RECRUITINGLIquid BIopsies in Patients Presenting Non-small Cell Lung Cancer
RECRUITINGUniversity of Iowa Interventional Psychiatry Service Patient Registry
RECRUITINGExternal Resources
Links to major genomics databases and tools