CLIP2

CAP-Gly domain-containing linker protein 2 is a protein that in humans is encoded by the CLIP2 gene.[5][6][7]

CLIP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCLIP2, CLIP, CLIP-115, CYLN2, WBSCR3, WBSCR4, WSCR3, WSCR4, CAP-Gly domain containing linker protein 2
External IDsOMIM: 603432 MGI: 1313136 HomoloGene: 20718 GeneCards: CLIP2
Orthologs
SpeciesHumanMouse
Entrez

7461

269713

Ensembl

ENSG00000106665

ENSMUSG00000063146

UniProt

Q9UDT6

Q9Z0H8

RefSeq (mRNA)

NM_032421
NM_003388

NM_001039162
NM_009990

RefSeq (protein)

NP_003379
NP_115797

NP_001034251
NP_034120

Location (UCSC)Chr 7: 74.29 – 74.41 MbChr 5: 134.52 – 134.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000106665 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000063146 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: CLIP2 CAP-GLY domain containing linker protein 2".

Further reading


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