CLIP2
| CLIP2 | ||||||
|---|---|---|---|---|---|---|
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 7: 74.29 – 74.41 Mb | Chr 5: 134.52 – 134.58 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
CAP-Gly domain-containing linker protein 2 is a protein that in humans is encoded by the CLIP2 gene.[5][6][7]
The
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000106665 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063146 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8812460.
- PMID 9799601.
- ^ a b "Entrez Gene: CLIP2 CAP-GLY domain containing linker protein 2".
External links
- Human CLIP2 genome location and CLIP2 gene details page in the UCSC Genome Browser.
Further reading
- Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. PMID 12168954.
- Ohara O, Nagase T, Ishikawa K, et al. (1997). "Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins". DNA Res. 4 (1): 53–9. PMID 9179496.
- The Sanger Centre; The Washington University Genome Sequencing Center (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. PMID 9847074.
- Corper AL, Stratmann T, Apostolopoulos V, et al. (2000). "A structural framework for deciphering the link between I-Ag7 and autoimmune diabetes". Science. 288 (5465): 505–11. PMID 10775108.
- Akhmanova A, Hoogenraad CC, Drabek K, et al. (2001). "Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts". Cell. 104 (6): 923–35. S2CID 14443149.
- Hoogenraad CC, Koekkoek B, Akhmanova A, et al. (2002). "Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice". Nat. Genet. 32 (1): 116–27. S2CID 1226832.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. PMID 12853948.
- Navarro-Lérida I, Martínez Moreno M, Roncal F, et al. (2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–46. S2CID 8868600.
- Evgrafov OV, Mersiyanova I, Irobi J, et al. (2004). "Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy". Nat. Genet. 36 (6): 602–6. PMID 15122254.
- Cheng J, Kapranov P, Drenkow J, et al. (2005). "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149–54. S2CID 13047538.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. S2CID 7827573.
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