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
Aliases	ATXN2L, A2D, A2LG, A2LP, A2RP, ataxin 2 like
External IDs	OMIM: 607931; MGI: 2446242; HomoloGene: 16513; GeneCards: ATXN2L; OMA:ATXN2L - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p11.2 Start 28,823,035 bp[1] End 28,837,237 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F3 Start 126,491,708 bp[2] End 126,503,437 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 11273 233871 Ensembl ENSG00000168488 ENSMUSG00000032637 UniProt Q8WWM7 Q7TQH0 RefSeq (mRNA) NM_001308230 NM_007245 NM_017492 NM_145714 NM_148414 NM_148415 NM_148416 NM_183020 NM_001347658 NM_001361487 RefSeq (protein) NP_001295159 NP_009176 NP_059867 NP_663760 NP_680780 NP_680781 NP_680782 NP_001334587 NP_898841 NP_001348416 Location (UCSC) Chr 16: 28.82 – 28.84 Mb Chr 7: 126.49 – 126.5 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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]