HGF

Chr 7

hepatocyte growth factor

Also known as: DFNB39, F-TCF, HGFB, HPTA, SF

NCBI Gene: 3082ENSG00000019991UniProt: P14210

This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 39

Clinical highlights

Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ARModerateconsider for supplementary testing
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
12
Active trials
812
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.25
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — HGF
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.25LOEUF
pLI 0.999
Z-score 5.82
OE 0.13 (0.07–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.85Z-score
OE missense 0.74 (0.68–0.82)
305 obs / 410.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.13 (0.07–0.25)
0≤0.351.4
Missense OE?0.74 (0.68–0.82)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 7 / 52.6Missense obs/exp: 305 / 410.2Syn Z: -0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HGF · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Heart Failure, SystolicHeart Failure NYHA Class IVMetabolic Disturbance

Mechanistic Studies of Nicotinamide Riboside in Human Heart Failure

ACTIVE NOT RECRUITING
NCT04528004Phase EARLY_PHASE1University of WashingtonStarted 2020-09-26
Nicotinamide ribosidePlacebo
Fabry Disease

Fabry Disease Registry & Pregnancy Sub-registry

RECRUITING
NCT00196742Genzyme, a Sanofi CompanyStarted 2001-07-31
Chronic Kidney Disease (Stage 3-4)

Effects of Maqui Supplementation on Gut Microbiota, Inflammation, and Oxidative Stress in Patients With Chronic Kidney Disease

NOT YET RECRUITING
NCT07776925Phase NAUniversidad MayorStarted 2026-09-10
maqui supplementationPLA
Ischemic Heart DiseaseChronic Coronary SyndromeOptical Coherence Tomography (OCT)

Evaluating the Role of IGF-1 and S-Klotho In Plaque Phenotype and Vulnerability: the VISION Study.

ACTIVE NOT RECRUITING
NCT06522074Fondazione Policlinico Universitario Agostino Gemelli IRCCSStarted 2024-10-15
Coronary angiography with OCT
Prediabetes

Effect of Increased Physical Activity and Stopping Evening Snacking in Metabolic Health in Youth With Prediabetes

RECRUITING
NCT06782906Phase NABaylor College of MedicineStarted 2025-05-13
≥10,000 daily steps (≥5 days/week) and stopping evening snacking
Pre-FrailtyAging

Exploratory Study on a Multi-nutrient Supplement and Exercise Program for Improving Health Markers Associated to Longevity in Pre-frail Adults

RECRUITING
NCT07454616Phase NANational University of SingaporeStarted 2025-09-22
Supervised exercise programa balanced micronutrient blend
Stress Disorders, Post-Traumatic

Role of Sympathetic Overactivity and Angiotensin II in PTSD and CV

RECRUITING
NCT02560805Phase PHASE2Emory UniversityStarted 2015-10
MicroneurographyCombat virtual reality video clipHandgrip Exercise
Overweight and ObesityLupus Erythematosus

Methyl-donor Nutrient Supplementation and Methylation Profile in Lupus Patients With Obesity

ENROLLING BY INVITATION
NCT05097365Phase NAUniversity of Sao PauloStarted 2022-01-01
Vitamin B12 + folic acid supplementationPlacebo supplementation
Perimenopausal Bone Loss

Prunes Preventing Bone Loss in Perimenopause

RECRUITING
NCT07120997Phase NAPenn State UniversityStarted 2025-12-11
PrunesCalcium supplementVitamin D Supplement
Concussion, BrainMild Traumatic Brain Injury

Risk Stratification in Children With Concussion

RECRUITING
NCT05825027Duke UniversityStarted 2023-05-23
PreDiabetesDysbiosisEndotoxemia

Assessing Gut Microbiota Mediated Health Outcomes of Whole Wheat and Its Major Bioactive Components

ACTIVE NOT RECRUITING
NCT05318183Phase NAOhio State UniversityStarted 2022-01-27
Whole Wheat BreadWhite Bread (control)
Heart FailureGut MicrobiomeNutritional Deficiency

Enhanced Nutritional Optimization in LVAD Trial

RECRUITING
NCT05655910Phase NAColumbia UniversityStarted 2022-09-22
Ensure Surgery Immunonutrition shake

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients