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MYOT (myotilin)

Identity

Other namesLGMD1
LGMD1A
TTID
HGNC (Hugo) MYOT
LocusID (NCBI) 9499
Location 5q31.2
Location_base_pair Starts at 137203545 and ends at 137223540 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MYOT   12399
Entrez_Gene (NCBI)MYOT  9499  myotilin
Cards
GeneCards (Weizmann)MYOT
Ensembl (Hinxton)ENSG00000120729 [Gene_View]  chr5:137203545-137223540 [Contig_View]  MYOT [Vega]
AceView (NCBI)MYOT
Genatlas (Paris)MYOT
SOURCE (Stanford)NM_001135940 NM_006790
Genomic and cartography
GoldenPath (UCSC)MYOT  -  5q31.2   chr5:137203545-137223540 +  5q31.2   [Description]    (hg19-Feb_2009)
EnsemblMYOT - 5q31.2 [CytoView]
Mapping of homologs : NCBIMYOT [Mapview]
OMIM159000   182920   604103   609200   
Gene and transcription
Genbank (Entrez)AF133820 AF144477 AK300076 AK300088 AK307620
RefSeq transcript (SRS)NM_001135940 NM_006790
RefSeq transcript (Entrez)NM_001135940 NM_006790
RefSeq genomic (SRS)AC_000137 NC_000005 NC_018916 NG_008894 NT_034772 NW_001838952 NW_004078024
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_008894 NT_034772 NW_001838952 NW_004078024
Consensus coding sequences : CCDS (NCBI)MYOT
Cluster EST : UnigeneHs.84665 [ SRS ] Hs.84665 [ NCBI ]
CGAP (NCI)Hs.84665
Alternative Splicing : Fast-db (Paris)GSHG0024262
Alternative Splicing GalleryENSG00000120729
Gene ExpressionMYOT [ NCBI-GEO ]   MYOT [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBF9 (SRS) Q9UBF9 (Uniprot)
NextProtQ9UBF9
With graphics : InterProQ9UBF9
Splice isoforms : SwissVarQ9UBF9(Swissvar)
Domaine pattern : Prosite (SRS)IG_LIKE (PS50835)   
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (SRS)Ig-like    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domains : Interpro (EBI)Ig-like    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Related proteins : CluSTrQ9UBF9
Domain families : Pfam (SRS)I-set (PF07679)   
Domain families : Pfam (Sanger)I-set (PF07679)   
Domain families : Pfam (NCBI)pfam07679   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
DMDM9499
Blocks (Seattle)Q9UBF9
PDB (SRS)2KDG    2KKQ   
PDB (PDBSum)2KDG    2KKQ   
PDB (IMB)2KDG    2KKQ   
PDB (RSDB)2KDG    2KKQ   
Human Protein AtlasENSG00000120729
HPRD04981
IPIIPI00009551   IPI00914545   IPI00967845   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBF9
IntAct (EBI)Q9UBF9
FunCoupENSG00000120729
REACTOMEMYOT
Protein Interaction Database9499
BioGRIDMYOT
InParanoidQ9UBF9
Interologous Interaction database Q9UBF9
IntegromeDBMYOT
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MYOT
SNP (GeneSNP Utah)MYOT
SNP : HGBaseMYOT
Genetic variants : HAPMAPMYOT
Somatic Mutations in Cancer : COSMICMYOT 
CONAN: Copy Number AnalysisMYOT 
Mutations and Diseases : HGMDMYOT
OMIM159000    182920    604103    609200   
GENETests159000    182920    604103    609200   
Disease Genetic AssociationMYOT
Huge Navigator MYOT [HugePedia]  MYOT [HugeCancerGEM]
Genomic VariantsMYOT  MYOT [DGVbeta]
snp3D : Map Gene to Disease9499
General knowledge
Homologs : HomoloGeneMYOT
Homology/Alignments : Family Browser (UCSC)MYOT
Phylogenetic Trees/Animal Genes : TreeFamMYOT
Chemical/Protein Interactions : CTD9499
Chemical/Pharm GKB GenePA37064
Clinical trialMYOT
Cancer Resource (Charite)ENSG00000120729
Ontology : AmiGOactin binding  protein binding  muscle contraction  structural constituent of muscle  actin cytoskeleton  Z disc  sarcolemma  
Ontology : EGO-EBIactin binding  protein binding  muscle contraction  structural constituent of muscle  actin cytoskeleton  Z disc  sarcolemma  
Other databases
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
PubGeneMYOT
iHOPMYOT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:43:17 CEST 2013
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