MET |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MET (HGNC:7029) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- MET proto-oncogene, receptor tyrosine kinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- HGFR, RCCP2, DFNB97
- %HI
- 1.18(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.31(Read more about gnomAD LOEUF score)
- Cytoband
- 7q31
- Genomic Coordinates
-
GRCh37/hg19: chr7:116312250-116438431 NCBI Ensembl UCSC GRCh38/hg38: chr7:116672196-116798377 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000245.4 ENST00000397752.8 (Read more about MANE Select)
- Function
- Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31475
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/06/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
PMID:17053076: A heterozygous noncoding MET point mutation is associated with Susceptibility to Autism 9 (MIM 611015) and functional analysis suggested this variant causes reduced MET expression, however further studies are necessary to determine whether MET haploinsufficiency is linked to this phenotype.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)