HGF Chromosome 7
Hepatocyte growth factor
Upload your DNA to see your personal genotypes for variants in HGF.
What This Gene Does
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]
Gene Info
Gene Group
Kringle domain containing
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000019991
Associated Conditions (2)
Autosomal recessive nonsyndromic hearing loss 39
Sensorineural hearing loss disorder
Key Variants
RS140790665
Conflicting classifications of pathogenicity
Health Risk
RS141774517
Conflicting classifications of pathogenicity
Health Risk
RS145494248
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39
Health Risk
RS145598174
Conflicting classifications of pathogenicity
Health Risk
RS147075806
Conflicting classifications of pathogenicity
Health Risk
RS148714837
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39
Health Risk
RS367800414
Conflicting classifications of pathogenicity
Health Risk
RS769438908
Conflicting classifications of pathogenicity
Health Risk
RS1279560054
Likely pathogenic
Health Risk
RS137853235
Pathogenic
Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39
Health Risk
RS1788701297
Pathogenic
Autosomal recessive nonsyndromic hearing loss 39, Sensorineural hearing loss disorder, Autosomal recessive nonsyndromic hearing loss 39
Health Risk
RS2535215694
Pathogenic
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140790665 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141774517 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145494248 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39 |
| RS145598174 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147075806 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148714837 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39 |
| RS367800414 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769438908 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1279560054 | Health Risk | Likely pathogenic | — |
| RS137853235 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39 |
| RS1788701297 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 39, Sensorineural hearing loss disorder, Autosomal recessive nonsyndromic hearing loss 39 |
| RS2535215694 | Health Risk | Pathogenic | — |
| RS373442319 | Health Risk | Pathogenic | — |
| RS900334407 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39 |