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Gene : CLIP2 Homo sapiens

Name  ? CAP-Gly domain containing linker protein 2 Cytological Location  7q11.23
Brief Description  CAP-Gly domain containing linker protein 2
Description  The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
  • synonyms:
  • CAP-GLY domain containing linker protein 2,
  • WSCR3,
  • WBSCR3,
  • CLIP-115,
  • OTTHUMG00000022980,
  • CYLN2,
  • uc003uam.3,
  • KIAA0291,
  • WSCR3,
  • Williams-Beuren syndrome chromosome region 3,
  • NM_003388,
  • HGNC:2586,
  • AB006629,
  • WSCR4,
  • WSCR4,
  • WBSCR4,
  • WBSCR3,
  • CYLN2,
  • CLIP-115,
  • CLIP2,
  • CLIP,
  • cytoplasmic linker 2,
  • WBSCR4,
  • CLIP
  • identifiers:
  • 7461,
  • ENSG00000106665,
  • CLIP2

Genome feature

Region: gene ? Length: 116537  
Location: 7:74289407-74405943 Cyto location: 7q11.23


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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Disease

0 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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Expression

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

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Other

0 Pathways

3740 SNPs

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results