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MYOT (myotilin)

Identity

Alias_namesTTID
LGMD1A
LGMD1
titin immunoglobulin domain protein (myotilin)
limb-girdle muscular dystrophy 1A (autosomal dominant)
Other aliasMFM3
TTOD
HGNC (Hugo) MYOT
LocusID (NCBI) 9499
Atlas_Id 50939
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 137867856 and ends at 137887851 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LOC257358 () / MYOT (5q31.2)MLF2 (12p13.31) / MYOT (5q31.2)MYOT (5q31.2) / BOLA2 (16p11.2)
MYOT (5q31.2) / GULP1 (2q32.1)MYOT (5q31.2) / HCFC2 (12q23.3)MYOT (5q31.2) / MALAT1 (11q13.1)
MYOT (5q31.2) / MYOT (5q31.2)MYOT (5q31.2) / SF1 (11q13.1)NKAIN2 (6q22.31) / MYOT (5q31.2)

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
LRG (Locus Reference Genomic)LRG_201
Cards
Entrez_Gene (NCBI)MYOT  9499  myotilin
AliasesLGMD1; LGMD1A; MFM3; TTID; 
TTOD
GeneCards (Weizmann)MYOT
Ensembl hg19 (Hinxton)ENSG00000120729 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120729 [Gene_View]  ENSG00000120729 [Sequence]  chr5:137867856-137887851 [Contig_View]  MYOT [Vega]
ICGC DataPortalENSG00000120729
TCGA cBioPortalMYOT
AceView (NCBI)MYOT
Genatlas (Paris)MYOT
WikiGenes9499
SOURCE (Princeton)MYOT
Genetics Home Reference (NIH)MYOT
Genomic and cartography
GoldenPath hg38 (UCSC)MYOT  -     chr5:137867856-137887851 +  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYOT  -     5q31.2   [Description]    (hg19-Feb_2009)
GoldenPathMYOT - 5q31.2 [CytoView hg19]  MYOT - 5q31.2 [CytoView hg38]
ImmunoBaseENSG00000120729
Mapping of homologs : NCBIMYOT [Mapview hg19]  MYOT [Mapview hg38]
OMIM182920   604103   609200   
Gene and transcription
Genbank (Entrez)AF133820 AF144477 AK300076 AK300088 AK307620
RefSeq transcript (Entrez)NM_001135940 NM_001300911 NM_006790
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYOT
Alternative Splicing GalleryENSG00000120729
Gene ExpressionMYOT [ NCBI-GEO ]   MYOT [ EBI - ARRAY_EXPRESS ]   MYOT [ SEEK ]   MYOT [ MEM ]
Gene Expression Viewer (FireBrowse)MYOT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9499
GTEX Portal (Tissue expression)MYOT
Human Protein AtlasENSG00000120729-MYOT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBF9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBF9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBF9
Splice isoforms : SwissVarQ9UBF9
PhosPhoSitePlusQ9UBF9
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)I-set (PF07679)   
Domain families : Pfam (NCBI)pfam07679   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)MYOT
DMDM Disease mutations9499
Blocks (Seattle)MYOT
PDB (RSDB)2KDG    2KKQ   
PDB Europe2KDG    2KKQ   
PDB (PDBSum)2KDG    2KKQ   
PDB (IMB)2KDG    2KKQ   
Structural Biology KnowledgeBase2KDG    2KKQ   
SCOP (Structural Classification of Proteins)2KDG    2KKQ   
CATH (Classification of proteins structures)2KDG    2KKQ   
SuperfamilyQ9UBF9
Human Protein Atlas [tissue]ENSG00000120729-MYOT [tissue]
Peptide AtlasQ9UBF9
HPRD04981
IPIIPI00009551   IPI00914545   IPI00967845   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBF9
IntAct (EBI)Q9UBF9
FunCoupENSG00000120729
BioGRIDMYOT
STRING (EMBL)MYOT
ZODIACMYOT
Ontologies - Pathways
QuickGOQ9UBF9
Ontology : AmiGOactin binding  protein binding  plasma membrane  muscle contraction  homophilic cell adhesion via plasma membrane adhesion molecules  axon guidance  axon guidance receptor activity  structural constituent of muscle  actin cytoskeleton  Z disc  Z disc  axon  sarcolemma  neuronal cell body  synapse organization  alpha-actinin binding  
Ontology : EGO-EBIactin binding  protein binding  plasma membrane  muscle contraction  homophilic cell adhesion via plasma membrane adhesion molecules  axon guidance  axon guidance receptor activity  structural constituent of muscle  actin cytoskeleton  Z disc  Z disc  axon  sarcolemma  neuronal cell body  synapse organization  alpha-actinin binding  
NDEx NetworkMYOT
Atlas of Cancer Signalling NetworkMYOT
Wikipedia pathwaysMYOT
Orthology - Evolution
OrthoDB9499
GeneTree (enSembl)ENSG00000120729
Phylogenetic Trees/Animal Genes : TreeFamMYOT
HOGENOMQ9UBF9
Homologs : HomoloGeneMYOT
Homology/Alignments : Family Browser (UCSC)MYOT
Gene fusions - Rearrangements
Fusion : QuiverMYOT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYOT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOT
dbVarMYOT
ClinVarMYOT
1000_GenomesMYOT 
Exome Variant ServerMYOT
ExAC (Exome Aggregation Consortium)ENSG00000120729
GNOMAD BrowserENSG00000120729
Varsome BrowserMYOT
Genetic variants : HAPMAP9499
Genomic Variants (DGV)MYOT [DGVbeta]
DECIPHERMYOT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYOT 
Mutations
ICGC Data PortalMYOT 
TCGA Data PortalMYOT 
Broad Tumor PortalMYOT
OASIS PortalMYOT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYOT  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYOT
Mutations and Diseases : HGMDMYOT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYOT
DgiDB (Drug Gene Interaction Database)MYOT
DoCM (Curated mutations)MYOT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYOT (select a term)
intoGenMYOT
Cancer3DMYOT(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182920    604103    609200   
Orphanet20166    8718    13928   
DisGeNETMYOT
MedgenMYOT
Genetic Testing Registry MYOT
NextProtQ9UBF9 [Medical]
TSGene9499
GENETestsMYOT
Target ValidationMYOT
Huge Navigator MYOT [HugePedia]
snp3D : Map Gene to Disease9499
BioCentury BCIQMYOT
ClinGenMYOT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9499
Chemical/Pharm GKB GenePA37064
Clinical trialMYOT
Miscellaneous
canSAR (ICR)MYOT (select the gene name)
HarmonizomeMYOT
DataMed IndexMYOT
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYOT
EVEXMYOT
GoPubMedMYOT
iHOPMYOT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sun May 10 12:25:04 CEST 2020
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