ATXN2L

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.[5][6][7]

ATXN2L
Identifiers
AliasesATXN2L, A2D, A2LG, A2LP, A2RP, ataxin 2 like
External IDsOMIM: 607931 MGI: 2446242 HomoloGene: 16513 GeneCards: ATXN2L
Orthologs
SpeciesHumanMouse
Entrez

11273

233871

Ensembl

ENSG00000168488

ENSMUSG00000032637

UniProt

Q8WWM7

Q7TQH0

RefSeq (mRNA)

NM_183020
NM_001347658
NM_001361487

RefSeq (protein)

NP_001334587
NP_898841
NP_001348416

Location (UCSC)Chr 16: 28.82 – 28.84 MbChr 7: 126.49 – 126.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

Interactions

ATXN2L has been shown to interact with Myeloproliferative leukemia virus oncogene.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000168488 - Ensembl, May 2017
  2. 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.
  5. 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.
  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.
  7. "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.

Further reading


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