ATXN2L

ATXN2L
Identifiers
AliasesATXN2L, A2D, A2LG, A2LP, A2RP, ataxin 2 like
External IDsOMIM: 607931; MGI: 2446242; HomoloGene: 16513; GeneCards: ATXN2L; OMA:ATXN2L - orthologs
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
Wikidata
View/Edit HumanView/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.