ATXN2L

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Ataxin 2-like
Identifiers
Symbol(s) ATXN2L; A2D; A2LG; A2LP; A2RP
External IDs OMIM: 607931 MGI: 2446242 HomoloGene: 16513
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 11273 233871
Ensembl ENSG00000168488 ENSMUSG00000032637
Uniprot Q8WWM7 Q3TGG2
Refseq XM_001127543 (mRNA)
XP_001127543 (protein)		 NM_183020 (mRNA)
NP_898841 (protein)
Location Chr 16: 28.74 - 28.76 Mb Chr 7: 126.28 - 126.29 Mb
Pubmed search [1] [2]

Ataxin 2-like, also known as ATXN2L, is a human gene.[1]

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene.[1]

[edit] References

  1. ^ a b Entrez Gene: ATXN2L ataxin 2-like.

[edit] Further reading

  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474. 
  • Pulst SM, Nechiporuk A, Nechiporuk T, et al. (1996). "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.". Nat. Genet. 14 (3): 269–76. doi:10.1038/ng1196-269. PMID 8896555. 
  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174. 
  • Meunier C, Bordereaux D, Porteu F, et al. (2002). "Cloning and characterization of a family of proteins associated with Mpl.". J. Biol. Chem. 277 (11): 9139–47. doi:10.1074/jbc.M105970200. PMID 11784712. 
  • 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. PMID 12477932. 
  • Figueroa KP, Pulst SM (2004). "Identification and expression of the gene for human ataxin-2-related protein on chromosome 16.". Exp. Neurol. 184 (2): 669–78. doi:10.1016/S0014-4886(03)00287-5. PMID 14769358. 
  • Brill LM, Salomon AR, Ficarro SB, et al. (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID 15144186. 
  • Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Ong SE, Mittler G, Mann M (2005). "Identifying and quantifying in vivo methylation sites by heavy methyl SILAC.". Nat. Methods 1 (2): 119–26. doi:10.1038/nmeth715. PMID 15782174. 
  • Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. 
  • Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. 
  • 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. 
  • Nonhoff U, Ralser M, Welzel F, et al. (2007). "Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules.". Mol. Biol. Cell 18 (4): 1385–96. doi:10.1091/mbc.E06-12-1120. PMID 17392519. 
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