MYOT (myotilin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9499
Gene name Myotilin
Gene symbol MYOT
Synonyms (NCBI Gene)
LGMD1LGMD1AMFM3TTIDTTOD
Chromosome 5
Chromosome location 5q31.2
Summary This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutatio
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT019225 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 11038172, 12809483, 16076904, 25416956, 26871637, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604103 12399 ENSG00000120729
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBF9
Protein name Myotilin (57 kDa cytoskeletal protein) (Myofibrillar titin-like Ig domains protein) (Titin immunoglobulin domain protein)
Protein function Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.
PDB 2KDG , 2KKQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 250 → 340 Immunoglobulin I-set domain Domain
PF07679 I-set 349 → 440 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland. {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:10486214}.
Sequence 
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSS
HITMSSSAFPASPKQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNY
QQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLT
YEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQ
DAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIV
SEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKV
LEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGW
YTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPE
GEFQRLAAQSGLYESEEL
Sequence length 498
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
457
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Distal myopathy Pathogenic rs121908458 RCV005624677
Myofibrillar myopathy Pathogenic rs121908458 RCV000239643
Myofibrillar myopathy 3 Pathogenic; Likely pathogenic rs28937597, rs121908457, rs121908458, rs121908460, rs121908461, rs1755403182 RCV000639976
RCV000794536
RCV000006193
RCV000006194
RCV000006195
RCV002512824
RCV003990367
MYOT-related disorder Likely pathogenic; Pathogenic rs121908458 RCV003415664
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs144731446 RCV005895861
Cardiomyopathy Conflicting classifications of pathogenicity rs141801816 RCV000852561
Familial cancer of breast Conflicting classifications of pathogenicity rs144731446 RCV005895860
Heart failure Benign; Likely benign; Conflicting classifications of pathogenicity rs71578935, rs142416150, rs779568205 RCV000852992
RCV000852990
RCV000852991
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Hypertrophic Associate 19027924
Distal Myopathies Associate 19027924, 19590214
Gait Disorders Neurologic Associate 19027924
Muscle Rigidity Associate 19590214
Muscle Weakness Associate 19027924, 27854214
Muscular Diseases Associate 19027924, 36776921
Muscular Dystrophies Associate 27854214
Muscular Dystrophies Limb Girdle Associate 9598725, 9973293
Muscular dystrophy limb girdle type 1A Associate 15947064
Myofibrillar Myopathy Associate 15947064, 17418574, 17784878, 19027924, 19050726, 21676617, 22106715, 25208129, 27618136, 27854214, 31309175, 39973468