ATXN2L

ATXN2L
Identifiers
Aliases	ATXN2L, A2D, A2LG, A2LP, A2RP, ataxin 2 like
External IDs	OMIM: 607931; MGI: 2446242; GeneCards: ATXN2L
Gene location (Human)
Chr.	Chromosome 16 (human)
End	28,837,237 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	126,503,437 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; right hemisphere of cerebellum; ; anterior pituitary; ; granulocyte; ; beta cell; ; olfactory bulb; ; body of uterus; ; left lobe of thyroid gland; ; right lobe of thyroid gland;
	Top expressed in
	zygote; ; secondary oocyte; ; Rostral migratory stream; ; tail of embryo; ; genital tubercle; ; neural layer of retina; ; granulocyte; ; spermatocyte; ; spermatid; ; primary visual cortex;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; cadherin binding; RNA binding;
Cellular component	nucleus; nuclear speck; membrane; cytoplasmic stress granule; cytoplasm; cytosol;
Biological process	regulation of cytoplasmic mRNA processing body assembly; stress granule assembly;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	11273
	233871
	ENSG00000168488
	ENSMUSG00000032637
	Q8WWM7
	Q7TQH0
NM_001308230; NM_007245; NM_017492; NM_145714; NM_148414;
	NM_148415; NM_148416
	NM_183020; NM_001347658; NM_001361487
NP_001295159; NP_009176; NP_059867; NP_663760; NP_680780;
	NP_680781; NP_680782
	NP_001334587; NP_898841; NP_001348416
	Wikidata
View/Edit Human	View/Edit Mouse

Ataxin-2-like protein was initially identified in 1996 and designated Ataxin-2 Related protein (A2RP) as the search for the gene causing SCA2 lead to the identification of 2 cDNA clones with high similarity to ATXN2 (Pulst et al, 1996). It was later renamed as ATXN2L. It is a protein that in humans is encoded by the ATXN2L gene.

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.

Interactions

ATXN2L has been shown to interact with Myeloproliferative leukemia virus oncogene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000168488 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032637 – 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.
1 2 Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chretien S, Courtois G (Mar 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.
↑ Figueroa KP, Pulst SM (Feb 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. S2CID 10975750.
1 2 "Entrez Gene: ATXN2L ataxin 2-like".

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. S2CID 12365475.

External links

Human ATXN2L genome location and ATXN2L gene details page in the UCSC Genome Browser.

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. S2CID 12365475.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. 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. PMC 528928. 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. S2CID 6654604.
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. S2CID 13709685.
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. S2CID 14294292.
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. S2CID 7827573.
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. PMC 1838996. PMID 17392519.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000168488 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032637 – 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.

[pmid11784712-5] 1 2 Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chretien S, Courtois G (Mar 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.

[pmid14769358-6] Figueroa KP, Pulst SM (Feb 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. S2CID 10975750.

[entrez-7] 1 2 "Entrez Gene: ATXN2L ataxin 2-like".

ATXN2L

Interactions

References

External links

Further reading