CLIP2

CAP-GLY domain containing linker protein 2

PDB rendering based on 2cp2.
Identifiers
Symbols CLIP2; CLIP; CLIP-115; CYLN2; KIAA0291; MGC11333; WBSCR3; WBSCR4; WSCR3; WSCR4
External IDs OMIM603432 MGI1313136 HomoloGene20718 GeneCards: CLIP2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 7461 269713
Ensembl ENSG00000106665 ENSMUSG00000063146
UniProt Q9UDT6 Q9Z0H8
RefSeq (mRNA) NM_003388.4 NM_001039162
RefSeq (protein) NP_003379.3 NP_001034251
Location (UCSC) Chr 7:
73.7 – 73.82 Mb
Chr 5:
134.97 – 135.03 Mb
PubMed search [1] [2]

CAP-Gly domain-containing linker protein 2 is a protein that in humans is encoded by the CLIP2 gene.[1][2][3]

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.[3]

References

  1. ^ Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC (Jan 1997). "Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients". Genomics 36 (2): 328–36. doi:10.1006/geno.1996.0469. PMID 8812460. 
  2. ^ Hoogenraad CC, Eussen BH, Langeveld A, van Haperen R, Winterberg S, Wouters CH, Grosveld F, De Zeeuw CI, Galjart N (Dec 1998). "The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region". Genomics 53 (3): 348–58. doi:10.1006/geno.1998.5529. PMID 9799601. 
  3. ^ a b "Entrez Gene: CLIP2 CAP-GLY domain containing linker protein 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7461. 

Further reading