Gene Report

Gene: MC1R     Link to MethyView
Summary
Gene symbol MC1R
Alias BETA-4, MC1R, TUBB3, TUBB4
Cytogenetic Location 16q24.3
Type KNOWN
Property protein_coding
Description Tubulin beta-3 chain (Tubulin beta-III) (Tubulin beta-4) [TUBB4]
External Links
   Ensembl ENSG00000198211
   OMIM 155555 602661
   mRNA NM_006086.2 NM_002386.2
   SwissProt Q01726 Q13509
 
Diseases(Cancers)
Cancer Name Skin Melanoma
Description From manual review:
 
 
Genomic Regions, Transcripts and Proteins
Gene Structure <0...949>, <1331...1478>, <13312...13420>, <14209...14319>, <15470...16545>
Ensembl Transcript ENST00000304984
Ensembl Protein ENSP00000302777
Gene Ontology GO:0015630 IEA Generated via Q99698
GO:0005739 IEA Generated via O14521
GO:0007018 IEA Generated via Q86YK7
GO:0005525 IEA Generated via Q969Q5
GO:0005737 IEA Generated via P54259
GO:0051258 IEA Generated via P68366
GO:0000166 IEA Generated via Q9Y2A5
GO:0001584 IEA Generated via P30411
GO:0004872 IEA Generated via Q96R67
GO:0004980 IEA Generated via Q01726
GO:0005198 IEA Generated via Q5U1V4
GO:0007165 IEA Generated via Q96R67
GO:0007187 TAS Generated via P30939
GO:0003924 IEA Generated via O95716
GO:0016020 IEA Generated via Q96R67
GO:0005887 TAS Generated via P56589
GO:0009650 TAS Generated via Q01726
GO:0007275 TAS Generated via Q99217
GO:0005874 IEA Generated via Q9UDT6
GO:0043234 IEA Generated via P68366
 
Gene Structure <0...82>, <9195...9303>, <10092...10202>, <11353...12428>
Ensembl Transcript ENST00000315491
Ensembl Protein ENSP00000320295
Gene Ontology GO:0007018 IEA Generated via Q86YK7
GO:0005856 NR Generated via Q9UDT6
GO:0005200 NR Generated via O00468
GO:0005525 IEA Generated via Q969Q5
GO:0005737 IEA Generated via P54259
GO:0051258 IEA Generated via P68366
GO:0000166 IEA Generated via Q9Y2A5
GO:0005198 IEA Generated via Q5U1V4
GO:0005874 IEA Generated via Q9UDT6
GO:0003924 IEA Generated via O95716
GO:0043234 IEA Generated via P68366
 
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DNA methylation and CGIs
Gene MethyCancer Type Candidate cancer gene with experimental methylation data
Link to MethyView
 
Mutations
ID 3212365
Nucleotide Ex1+1107G>C
Type known SNP
Source CGAP
 
ID 34540312
Nucleotide Ex1+906G>A
Type known SNP
Source CGAP
 
ID 34209185
Nucleotide Ex1-1171C>T
Type known SNP
Source CGAP
 
ID 1110400
Nucleotide Ex1+1105T>C
Type known SNP
Source CGAP
 
ID 34564466
Nucleotide Ex1-1087G>A
Type known SNP
Source CGAP
 
ID 885479
Nucleotide Ex1+1129G>A
Type known SNP
Source CGAP
 
ID 35040147
Nucleotide Ex1+1138C>G
Type known SNP
Source CGAP
 
ID 1805007
Nucleotide Ex1+1092C>T
Type known SNP
Source CGAP
 
ID 1805005
Nucleotide Ex1+819G>T
Type known SNP
Source CGAP
 
ID 2228479
Nucleotide Ex1+915G>A
Type known SNP
Source CGAP
 
ID 1805008
Nucleotide Ex1+1119C>T
Type known SNP
Source CGAP
 
ID 33932559
Nucleotide Ex1+1000T>C
Type known SNP
Source CGAP
 
ID 34158934
Nucleotide Ex1+925C>T
Type known SNP
Source CGAP
 
Bibliography
Title Deciphering the underlying genetic and epigenetic events leading to gastric carcinogenesis.
Citations J Cell Physiol. 2007 May;211(2):287-95
PubMedID 17238139
 
Title Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36.
Citations Am J Hum Genet. 1999 Mar;64(3):776-87.
PubMedID 10053012