释义 |
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{{Infobox_gene}}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] References1. ^{{cite journal | vauthors = 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 | title = Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients | journal = Genomics | volume = 36 | issue = 2 | pages = 328–36 |date=Jan 1997 | pmid = 8812460 | pmc = | doi = 10.1006/geno.1996.0469 }} 2. ^{{cite journal | vauthors = Hoogenraad CC, Eussen BH, Langeveld A, van Haperen R, Winterberg S, Wouters CH, Grosveld F, De Zeeuw CI, Galjart N | title = 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 | journal = Genomics | volume = 53 | issue = 3 | pages = 348–58 |date=Dec 1998 | pmid = 9799601 | pmc = | doi = 10.1006/geno.1998.5529 }} 3. ^1 {{cite web | title = Entrez Gene: CLIP2 CAP-GLY domain containing linker protein 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7461| accessdate = }}
External linksFurther reading{{refbegin | 2}}- {{cite journal | author=Nakajima D |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 |name-list-format=vanc| author2=Okazaki N | author3=Yamakawa H | display-authors=3 | last4=Kikuno | first4=R | last5=Ohara | first5=O | last6=Nagase | first6=T }}
- {{cite journal | author=Ohara O |title=Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins |journal=DNA Res. |volume=4 |issue= 1 |pages= 53–9 |year= 1997 |pmid= 9179496 |doi=10.1093/dnares/4.1.53 |name-list-format=vanc| author2=Nagase T | author3=Ishikawa K | display-authors=3 | last4=Nakajima | first4=D | last5=Ohira | first5=M | last6=Seki | first6=N | last7=Nomura | first7=N }}
- {{cite journal | author1= The Sanger Centre | author2= The Washington University Genome Sequencing Center|title=Toward a complete human genome sequence |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi= 10.1101/gr.8.11.1097 }}
- {{cite journal | author=Corper AL |title=A structural framework for deciphering the link between I-Ag7 and autoimmune diabetes |journal=Science |volume=288 |issue= 5465 |pages= 505–11 |year= 2000 |pmid= 10775108 |doi=10.1126/science.288.5465.505 |name-list-format=vanc| author2=Stratmann T | author3=Apostolopoulos V | display-authors=3 | last4=Scott | first4=CA | last5=Garcia | first5=KC | last6=Kang | first6=AS | last7=Wilson | first7=IA | last8=Teyton | first8=L }}
- {{cite journal | author=Akhmanova A |title=Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts |journal=Cell |volume=104 |issue= 6 |pages= 923–35 |year= 2001 |pmid= 11290329 |doi=10.1016/S0092-8674(01)00288-4 |name-list-format=vanc| author2=Hoogenraad CC | author3=Drabek K | display-authors=3 | last4=Stepanova | first4=Tatiana | last5=Dortland | first5=Bjorn | last6=Verkerk | first6=Ton | last7=Vermeulen | first7=Wim | last8=Burgering | first8=Boudewijn M. | last9=De Zeeuw | first9=Chris I. }}
- {{cite journal | author=Hoogenraad CC |title=Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice |journal=Nat. Genet. |volume=32 |issue= 1 |pages= 116–27 |year= 2002 |pmid= 12195424 |doi= 10.1038/ng954 |name-list-format=vanc| author2=Koekkoek B | author3=Akhmanova A | display-authors=3 | last4=Krugers | first4=Harm | last5=Dortland | first5=Bjorn | last6=Miedema | first6=Marja | last7=Van Alphen | first7=Arjan | last8=Kistler | first8=Werner M. | last9=Jaegle | first9=Martine }}
- {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
- {{cite journal | author=Hillier LW |title=The DNA sequence of human chromosome 7 |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 |name-list-format=vanc| author2=Fulton RS | author3=Fulton LA | display-authors=3 | last4=Graves | first4=Tina A. | last5=Pepin | first5=Kymberlie H. | last6=Wagner-Mcpherson | first6=Caryn | last7=Layman | first7=Dan | last8=Maas | first8=Jason | last9=Jaeger | first9=Sara }}
- {{cite journal | author=Navarro-Lérida I |title=Proteomic identification of brain proteins that interact with dynein light chain LC8 |journal=Proteomics |volume=4 |issue= 2 |pages= 339–46 |year= 2004 |pmid= 14760703 |doi= 10.1002/pmic.200300528 |name-list-format=vanc| author2=Martínez Moreno M | author3=Roncal F | display-authors=3 | last4=Gavilanes | first4=Francisco | last5=Albar | first5=Juan Pablo | last6=Rodríguez-Crespo | first6=Ignacio }}
- {{cite journal | author=Evgrafov OV |title=Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy |journal=Nat. Genet. |volume=36 |issue= 6 |pages= 602–6 |year= 2004 |pmid= 15122254 |doi= 10.1038/ng1354 |name-list-format=vanc| author2=Mersiyanova I | author3=Irobi J | display-authors=3 | last4=Van Den Bosch | first4=Ludo | last5=Dierick | first5=Ines | last6=Leung | first6=Conrad L | last7=Schagina | first7=Olga | last8=Verpoorten | first8=Nathalie | last9=Van Impe | first9=Katrien }}
- {{cite journal | author=Cheng J |title=Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution |journal=Science |volume=308 |issue= 5725 |pages= 1149–54 |year= 2005 |pmid= 15790807 |doi= 10.1126/science.1108625 |name-list-format=vanc| author2=Kapranov P | author3=Drenkow J | display-authors=3 | last4=Dike | first4=S | last5=Brubaker | first5=S | last6=Patel | first6=S | last7=Long | first7=J | last8=Stern | first8=D | last9=Tammana | first9=H }}
- {{cite journal | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |name-list-format=vanc| author2=Blagoev B | author3=Gnad F | display-authors=3 | last4=Macek | first4=Boris | last5=Kumar | first5=Chanchal | last6=Mortensen | first6=Peter | last7=Mann | first7=Matthias }}
{{refend}}{{PDB Gallery|geneid=7461}}{{gene-7-stub}} |