Gene Gene information from NCBI Gene database.
Entrez ID 4233
Gene name MET proto-oncogene, receptor tyrosine kinase
Gene symbol MET
Synonyms (NCBI Gene)
AUTS9DA11DFNB97HGFRRCCP2c-Met
Chromosome 7
Chromosome location 7q31.2
Summary This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form
SNPs SNP information provided by dbSNP.
37
SNP ID Visualize variation Clinical significance Consequence
rs34589476 C>T Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs35776110 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign Non coding transcript variant, genic upstream transcript variant, missense variant, intron variant, coding sequence variant
rs45520237 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, synonymous variant, coding sequence variant
rs56311081 C>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, stop gained, genic upstream transcript variant, missense variant, intron variant, coding sequence variant
rs56391007 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic, benign-likely-benign Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
637
miRTarBase ID miRNA Experiments Reference
MIRT001969 hsa-miR-199a-3p Luciferase reporter assayWestern blot 18456660
MIRT004292 hsa-miR-23b-3p Luciferase reporter assayqRT-PCRWestern blot 19490101
MIRT004292 hsa-miR-23b-3p Luciferase reporter assayqRT-PCRWestern blot 19490101
MIRT004292 hsa-miR-23b-3p Luciferase reporter assayqRT-PCRWestern blot 19490101
MIRT004292 hsa-miR-23b-3p Luciferase reporter assayqRT-PCRWestern blot 19490101
Transcription factors Transcription factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
FOXP2 Repression 21832174
HIF1A Activation 16099863
MITF Unknown 17371876
PAX3 Unknown 8633043
PAX5 Activation 24628993
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001886 Process Endothelial cell morphogenesis IDA 14500721
GO:0001889 Process Liver development IBA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164860 7029 ENSG00000105976
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08581
Protein name Hepatocyte growth factor receptor (HGF receptor) (EC 2.7.10.1) (HGF/SF receptor) (Proto-oncogene c-Met) (Scatter factor receptor) (SF receptor) (Tyrosine-protein kinase Met)
Protein 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 su
PDB 1FYR , 1R0P , 1R1W , 1SHY , 1SSL , 2G15 , 2RFN , 2RFS , 2UZX , 2UZY , 2WD1 , 2WGJ , 2WKM , 3A4P , 3BUX , 3C1X , 3CCN , 3CD8 , 3CE3 , 3CTH , 3CTJ , 3DKC , 3DKF , 3DKG , 3EFJ , 3EFK , 3F66 , 3F82 , 3I5N , 3L8V , 3LQ8 , 3Q6U , 3Q6W , 3QTI , 3R7O , 3RHK , 3U6H , 3U6I , 3VW8 , 3ZBX , 3ZC5 , 3ZCL , 3ZXZ , 3ZZE , 4AOI , 4AP7 , 4DEG , 4DEH , 4DEI , 4EEV , 4GG5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 54 493 Sema domain Family
PF01437 PSI 519 562 Plexin repeat Family
PF01833 TIG 563 654 IPT/TIG domain Domain
PF01833 TIG 657 738 IPT/TIG domain Domain
PF01833 TIG 742 832 IPT/TIG domain Domain
PF07714 PK_Tyr_Ser-Thr 1078 1337 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in normal hepatocytes as well as in epithelial cells lining the stomach, the small and the large intestine. Found also in basal keratinocytes of esophagus and skin. High levels are found in liver, gastrointestinal tract, thyr
Sequence
MKAPAVLAPGILVLLFTLVQRSNGECKEALAKSEMNVNMKYQLPNFTAETPIQNVILHEH
HIFLGATNYIYVLNEEDLQKVAEYKTGPVLEHPDCFPCQDCSSKANLSGGVWKDNINMAL
VVDTYYDDQLISCGSVNRGTCQRHVFPHNHTADIQSEVHCIFSPQIEEPSQCPDCVVSAL
GAKVLSSVKDRFINFFVGNTINSSYFPDHPLHSISVRRLKETKDGFMFLTDQSYIDVLPE
FRDSYPIKYVHAFESNNFIYFLTVQRETLDAQTFHTRIIRFCSINSGLHSYMEMPLECIL
TEKRKKRSTKKEVFNILQAAYVSKPGAQLARQIGASLNDDILFGVFAQSKPDSAEPMDRS
AMCAFPIKYVNDFFNKIVNKNNVRCLQHFYGPNHEHCFNRTLLRNSSGCEARRDEYRTEF
TTALQRVDLFMGQFSEVLLTSISTFIKGDLTIANLGTSEGRFMQVVVSRSGPSTPHVNFL
LDSHPVSPEVIVE
HTLNQNGYTLVITGKKITKIPLNGLGCRHFQSCSQCLSAPPFVQCGW
CHDKCVRSEECLSGTWTQQICL
PAIYKVFPNSAPLEGGTRLTICGWDFGFRRNNKFDLKK
TRVLLGNESCTLTLSESTMNTLKCTVGPAMNKHFNMSIIISNGHGTTQYSTFSY
VDPVIT
SISPKYGPMAGGTLLTLTGNYLNSGNSRHISIGGKTCTLKSVSNSILECYTPAQTISTEF
AVKLKIDLANRETSIFSY
REDPIVYEIHPTKSFISGGSTITGVGKNLNSVSVPRMVINVH
EAGRNFTVACQHRSNSEIICCTTPSLQQLNLQLPLKTKAFFMLDGILSKYFD
LIYVHNPV
FKPFEKPVMISMGNENVLEIKGNDIDPEAVKGEVLKVGNKSCENIHLHSEAVLCTVPNDL
LKLNSELNIEWKQAISSTVLGKVIVQPDQNFTGLIAGVVSISTALLLLLGFFLWLKKRKQ
IKDLGSELVRYDARVHTPHLDRLVSARSVSPTTEMVSNESVDYRATFPEDQFPNSSQNGS
CRQVQYPLTDMSPILTSGDSDISSPLLQNTVHIDLSALNPELVQAVQHVVIGPSSLIVHF
NEVIGRGHFGCVYHGTLLDNDGKKIHCAVKSLNRITDIGEVSQFLTEGIIMKDFSHPNVL
SLLGICLRSEGSPLVVLPYMKHGDLRNFIRNETHNPTVKDLIGFGLQVAKGMKYLASKKF
VHRDLAARNCMLDEKFTVKVADFGLARDMYDKEYYSVHNKTGAKLPVKWMALESLQTQKF
TTKSDVWSFGVLLWELMTRGAPPYPDVNTFDITVYLLQGRRLLQPEYCPDPLYEVMLKCW
HPKAEMRPSFSELVSRI
SAIFSTFIGEHYVHVNATYVNVKCVAPYPSLLSSEDNADDEVD
TRPASFWETS
Sequence length 1390
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
96
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Arthrogryposis, distal, IIa 11 Likely pathogenic; Pathogenic rs121913243, rs1554400286 RCV005394153
RCV002279723
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis, distal, type 1A Pathogenic rs1554400286 RCV000626485
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 97 Pathogenic; Likely pathogenic rs794728016, rs121913243 RCV000202585
RCV005394153
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer Pathogenic rs1794836064 RCV001293831
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHROGRYPOSIS, DISTAL, TYPE 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 11 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations