Entrez gene ID | | 7461 |
Official gene symbol | | CLIP2 |
Full name | | CAP-GLY domain containing linker protein 2 |
Aliases | | ,CLIP,CLIP-115,CYLN2,KIAA0291,MGC11333,WBSCR3,WBSCR4,WSCR3,WSCR4, |
Gene summary | | 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] |
Location | | Chromosome: 7 Locus: 7q11.23 |
Gene position | | 73703805 - 73820273 Map Viewer |
Gene orientation | | plus |
Gene size | | 116469 bp |
Gene sequence |
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OMIM ID | | 603432 |
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