HGF
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HGF (HGNC:4893) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
hepatocyte growth factor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB39
Alias symbols
SF, F-TCF, HGFB, HPTA
%HI
0.6(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.47(Read more about gnomAD LOEUF score)
Cytoband
7q21.11
Genomic Coordinates
GRCh37/hg19: chr7:81328326-81399363 NCBI Ensembl UCSC
GRCh38/hg38: chr7:81699010-81770047 NCBI Ensembl UCSC
MANE Select Transcript
NM_000601.6 ENST00000222390.11 (Read more about MANE Select)
Function
Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types (PubMed:20624990). Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization (PubMed:20977675, PubMed:15167892). Activates MAPK signaling following TMPRSS13 cleavage and activation (PubMed:20977675). {ECO:0000269|PubMed:15167892, ECO:0000269|PubMed:20624990, ECO:0000269|PubMed:20977675}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7657
ClinGen Curation ID:
CCID:007279
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 39 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)