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Gene : OBSL1 Homo sapiens

Name  ? obscurin like cytoskeletal adaptor 1 Cytological Location  2q35
Brief Description  obscurin like cytoskeletal adaptor 1
Description  Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
  • synonyms:
  • uc010fwk.4,
  • OBSL1,
  • KIAA0657,
  • obscurin like 1,
  • BC007201,
  • OTTHUMG00000059157,
  • HGNC:29092,
  • NM_001173408
  • identifiers:
  • 23363,
  • ENSG00000124006,
  • OBSL1

Genome feature

Region: gene ? Length: 22166  
Location: 2:219549408-219571573 reverse strand Cyto location: 2q35

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



345 SN Ps

5 Cross References

19 Data Sets

18 Homologues

2 Located Features

97 Rna Seq Results