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Protein Coding Gene : Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Primary Identifier  MGI:2681862 Organism  Mus musculus
Chromosome  11 NCBI Gene Number  380698
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.2)

Exhibits cadherin binding activity; phosphatidylinositol bisphosphate binding activity; and protein kinase activity. Involved in negative regulation of phosphatidylinositol 3-kinase signaling and protein autophosphorylation. Localizes to several cellular components, including intercalated disc; sarcolemma; and sarcomere. Is expressed in diaphragm; limb segment; and skeletal musculature. Orthologous to human OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice. [provided by MGI curators]
  • synonyms:
  • Obscn,
  • MGI:2685724,
  • BC046431,
  • predicted gene, OTTMUSG00000005786,
  • MGI:3702401,
  • Gm878,
  • LOC380698,
  • cDNA sequence BC046431,
  • MGI:2664530,
  • gene model 878, (NCBI),
  • MGC:51514,
  • OTTMUSG00000005786,
  • obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

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

Interactions

0 Pathways

369 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Mouse features --> Alleles

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications