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)
Triplosensitivity:
Not Yet Evaluated
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)