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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. MYOT, myotilin
Sequence ID:NM_001135940
NM_006790
RefSeqGene ID:NG_008894
Entrez Gene ID:9499
Ensembl ID:ENSG00000120729

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A 
MYOPATHY, SPHEROID BODY 
MYOTILINOPATHY 

Cytogenetic Location (from UniGene)

Cytogenetic Location:5q31Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:5: 137203559 - 137223540

 Exon Info From UCSC:
NM_001135940
NM_006790

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3934230Full LengthBC005376myotilin

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_006781  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001135940 NP_001129412    
NM_006790 NP_006781 Q9UBF9 I-set

Related Sequences

 
mRNAGenPeptSwissProt
AF133820 AAD29051 Q9UBF9
AF144477 AAD44754 Q9UBF9
BC005376 AAH05376 Q9UBF9
EU176357 ABW03808  
GQ129442 ACT64576  
GQ129443 ACT64577  
AK312733 BAG35604 B2R6V7
AK300076 BAG61880 B4DT68
AK300088 BAG61891 Q9UBF9

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MYOT NP_006781 R.norvegicus Myot 291605   NP_001099618 91
M.musculus Myot 58916 Gene Info NP_001028793 90

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)