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Protein Coding Gene : Myot myotilin

Primary Identifier  MGI:1889800 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  58916
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable alpha-actinin binding activity and cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in Z disc. Is expressed in several structures, including embryo mesenchyme; gut; lung; nervous system; and skin. Human ortholog(s) of this gene implicated in muscular dystrophy and myofibrillar myopathy 3. Orthologous to human MYOT (myotilin).
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 5530402I04 gene,
  • titin immunoglobulin domain protein (myotilin),
  • Myot,
  • myotilin,
  • MGI:1921762,
  • 5530402I04Rik,
  • Ttid

Features --> Cross References

Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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