CLIP2: Difference between revisions
Jump to navigation
Jump to search
m Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}) |
m Bot: HTTP→HTTPS |
||
Line 1: | Line 1: | ||
{{Infobox_gene}} | |||
{{ | '''CAP-Gly domain-containing linker protein 2''' is a [[protein]] that in humans is encoded by the ''CLIP2'' [[gene]].<ref name="pmid8812460">{{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 }}</ref><ref name="pmid9799601">{{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 }}</ref><ref name="entrez">{{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 = }}</ref> | ||
}} | |||
| | |||
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | <!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | ||
{{PBB_Summary | {{PBB_Summary | ||
| section_title = | | section_title = | ||
| summary_text = The protein encoded by this gene belongs to the family of cytoplasmic linker | | summary_text = The [[protein]] encoded by this [[gene]] belongs to the family of [[cytoplasmic linker protein]]s, which have been proposed to mediate the interaction between specific membranous [[cell organelles|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.<ref name="entrez"/> | ||
}} | }} | ||
==References== | ==References== | ||
{{reflist| | {{reflist}} | ||
==External links== | |||
* {{UCSC gene info|CLIP2}} | |||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | author=Nakajima D | *{{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 | author=Ohara O | *{{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 | | *{{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=Corper AL | *{{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=Akhmanova A | *{{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=Hoogenraad CC | *{{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=Strausberg RL | *{{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=Hillier LW | *{{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=Navarro-Lérida I | *{{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=Evgrafov OV | *{{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 }} | ||
*{{cite journal | author=Cheng J | |||
*{{cite journal | author=Olsen JV | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{PDB Gallery|geneid=7461}} | |||
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. --> | |||
{{PBB_Controls | |||
| update_page = yes | |||
| require_manual_inspection = no | |||
| update_protein_box = yes | |||
| update_summary = yes | |||
| update_citations = yes | |||
}} | |||
{{ | {{gene-7-stub}} | ||
Latest revision as of 09:49, 30 August 2017
VALUE_ERROR (nil) | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Aliases | |||||||
External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
|
| |||||
Ensembl |
|
| |||||
UniProt |
|
| |||||
RefSeq (mRNA) |
|
| |||||
RefSeq (protein) |
|
| |||||
Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
|
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
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "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. doi:10.1093/dnares/9.3.99. 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. doi:10.1093/dnares/4.1.53. PMID 9179496.
- The Sanger Centre; The Washington University Genome Sequencing Center (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. 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. doi:10.1126/science.288.5465.505. 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. doi:10.1016/S0092-8674(01)00288-4. PMID 11290329.
- 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. doi:10.1038/ng954. PMID 12195424.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. 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. doi:10.1002/pmic.200300528. PMID 14760703.
- 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. doi:10.1038/ng1354. 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. doi:10.1126/science.1108625. PMID 15790807.
- 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. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. |