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Aliases for ATXN2L Gene

Aliases for ATXN2L Gene

  • Ataxin 2 Like 2 3 5
  • Ataxin-2 Domain Protein 3 4
  • A2LG 3 4
  • A2LP 3 4
  • A2RP 3 4
  • A2D 3 4
  • Ataxin 2 Related Protein 3
  • Ataxin-2-Related Protein 4
  • Ataxin-2-Like Protein 3
  • Ataxin 2-Like 2

External Ids for ATXN2L Gene

Previous GeneCards Identifiers for ATXN2L Gene

  • GC16P028741
  • GC16P026701

Summaries for ATXN2L Gene

Entrez Gene Summary for 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATXN2L Gene

ATXN2L (Ataxin 2 Like) is a Protein Coding gene. An important paralog of this gene is ATXN2.

UniProtKB/Swiss-Prot for ATXN2L Gene

  • Involved in the regulation of stress granule and P-body formation.

Gene Wiki entry for ATXN2L Gene

Additional gene information for ATXN2L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN2L Gene

Genomics for ATXN2L Gene

GeneHancer (GH) Regulatory Elements for ATXN2L Gene

Promoters and enhancers for ATXN2L Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I028821 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 562.9 +1.1 1097 4.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ATXN2L ENSG00000275807 TUFM NPIPB12 ENSG00000261766 SH2B1 ENSG00000198106 ENSG00000260853 ENSG00000251417 SPNS1
GH16I029803 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 61.6 +985.4 985408 10.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PRRT2 ENSG00000259952 ENSG00000280607 GC16P029807 GC16P029809 GC16P029941 PIR38319 MAZ PIR52049 PIR43581
GH16I029273 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 54.9 +450.9 450865 0.6 HDGF PKNOX1 FOXA2 ARNT YBX1 ZBTB7B TCF12 ZNF280A E2F8 ZNF207 ENSG00000277999 ENSG00000260853 NPIPB12 ATXN2L INO80E SPNS1 NFATC2IP NPIPB13 ENSG00000260367 SMG1P2
GH16I028861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 40.1 +41.6 41585 5.6 CLOCK ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC PPARGC1A SH2B1 ENSG00000261766 TUFM ATXN2L NPIPB12 NFATC2IP ENSG00000260853 SULT1A2 NPIPB10P ENSG00000198106
GH16I028844 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 38.8 +23.2 23168 3 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC TUFM SH2B1 ATXN2L NFATC2IP SPNS1 ENSG00000260853 SMG1P2 NPIPB10P ENSG00000260367 NPIPB12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATXN2L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATXN2L gene promoter:

Genomic Locations for ATXN2L Gene

Genomic Locations for ATXN2L Gene
14,203 bases
Plus strand

Genomic View for ATXN2L Gene

Genes around ATXN2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN2L Gene

Proteins for ATXN2L Gene

  • Protein details for ATXN2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ataxin-2-like protein
    Protein Accession:
    Secondary Accessions:
    • A8K1R6
    • B9EGM2
    • E9PAR9
    • O95135
    • Q63ZY4
    • Q6NVJ8
    • Q6PJW6
    • Q8IU61
    • Q8IU95
    • Q8WWM3
    • Q8WWM4
    • Q8WWM5
    • Q8WWM6
    • Q99703

    Protein attributes for ATXN2L Gene

    1075 amino acids
    Molecular mass:
    113374 Da
    Quaternary structure:
    • Interacts with MPL/TPOR and EPOR and dissociates after ligand stimulation (PubMed:11784712). Interacts with DDX6, G3BP1, and ATXN2 (PubMed:23209657). Interacts with PRMT1 (PubMed:25748791). Interacts with CIC and ATXN1 (By similarity).
    • Sequence=AAC69607.1; Type=Frameshift; Positions=31, 429, 432, 446; Evidence={ECO:0000305}; Sequence=AAO12056.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAO12057.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAO12058.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAO12058.1; Type=Miscellaneous discrepancy; Note=Exon duplication.; Evidence={ECO:0000305}; Sequence=AAO12059.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAO12059.1; Type=Miscellaneous discrepancy; Note=Exon duplication.; Evidence={ECO:0000305}; Sequence=AAO12060.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAO12060.1; Type=Miscellaneous discrepancy; Note=Exon duplication.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATXN2L Gene

neXtProt entry for ATXN2L Gene

Post-translational modifications for ATXN2L Gene

  • Asymmetrically dimethylated. Probably methylated by PRMT1.
  • Thrombopoietin triggers the phosphorylation on tyrosine residues in a way that is dependent on MPL C-terminal domain.
  • Ubiquitination at Lys106, Lys207, and posLast=507507
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATXN2L Gene

Domains & Families for ATXN2L Gene

Gene Families for ATXN2L Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ATXN2L Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ataxin-2 family.
  • Belongs to the ataxin-2 family.
genes like me logo Genes that share domains with ATXN2L: view

Function for ATXN2L Gene

Molecular function for ATXN2L Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of stress granule and P-body formation.

Phenotypes From GWAS Catalog for ATXN2L Gene

Gene Ontology (GO) - Molecular Function for ATXN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA --
GO:0005515 protein binding IPI 11784712
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with ATXN2L: view

Phenotypes for ATXN2L Gene

genes like me logo Genes that share phenotypes with ATXN2L: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATXN2L Gene

Localization for ATXN2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN2L Gene

Membrane; Peripheral membrane protein. Cytoplasm. Nucleus speckle. Cytoplasmic granule. Note=Predominantly cytoplasmic but is also detected in nuclear speckles (PubMed:23209657). Component of cytoplasmic stress granules (PubMed:23209657). Inhibition of methylation alters nuclear localization (PubMed:25748791). Methylation does not seem to be required for localization to stress granules under stress conditions (PubMed:25748791). {ECO:0000269 PubMed:23209657, ECO:0000269 PubMed:25748791}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATXN2L gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATXN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0010494 cytoplasmic stress granule IDA 23209657
GO:0016020 membrane IDA,IEA 11784712
genes like me logo Genes that share ontologies with ATXN2L: view

Pathways & Interactions for ATXN2L Gene

SuperPathways for ATXN2L Gene

No Data Available

SIGNOR curated interactions for ATXN2L Gene

Other effect:

Gene Ontology (GO) - Biological Process for ATXN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010603 regulation of cytoplasmic mRNA processing body assembly IDA 23209657
GO:0034063 stress granule assembly IMP 23209657
genes like me logo Genes that share ontologies with ATXN2L: view

No data available for Pathways by source for ATXN2L Gene

Drugs & Compounds for ATXN2L Gene

No Compound Related Data Available

Transcripts for ATXN2L Gene

Unigene Clusters for ATXN2L Gene

Ataxin 2-like:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN2L Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^
SP1: - - - - - -
SP2: - - -
SP3: - - - - - -
SP8: - - - -
SP9: -
SP10: - - - - - -

ExUns: 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b
SP5: - -
SP6: - -
SP7: - - -
SP12: -
SP14: -
SP15: - -

Relevant External Links for ATXN2L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATXN2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATXN2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATXN2L Gene

This gene is overexpressed in Bone marrow stromal cell (13.2) and Peripheral blood mononuclear cells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATXN2L Gene

Protein tissue co-expression partners for ATXN2L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATXN2L Gene:


SOURCE GeneReport for Unigene cluster for ATXN2L Gene:


mRNA Expression by UniProt/SwissProt for ATXN2L Gene:

Tissue specificity: Expressed at high levels in thymus, lymph node, spleen, fetal kidney and adult testis. Constitutively associated with MPL and EPOR in hematopoietic cells.

Evidence on tissue expression from TISSUES for ATXN2L Gene

  • Nervous system(4.6)
  • Skin(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ATXN2L: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN2L Gene

Orthologs for ATXN2L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATXN2L Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATXN2L 33 34
  • 97.2 (n)
(Canis familiaris)
Mammalia ATXN2L 33 34
  • 92.88 (n)
(Bos Taurus)
Mammalia ATXN2L 33 34
  • 91.95 (n)
(Mus musculus)
Mammalia Atxn2l 33 16 34
  • 88.88 (n)
(Rattus norvegicus)
Mammalia Atxn2l 33
  • 88.18 (n)
(Monodelphis domestica)
Mammalia ATXN2L 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia ATXN2L 34
  • 75 (a)
(Anolis carolinensis)
Reptilia ATXN2L 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn2l 33
  • 68.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14045 33
(Danio rerio)
Actinopterygii atxn2l 33 34
  • 56.6 (n)
wufi19h05 33
fruit fly
(Drosophila melanogaster)
Insecta Atx2 34
  • 15 (a)
(Caenorhabditis elegans)
Secernentea atx-2 34
  • 17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBP1 34
  • 17 (a)
Species where no ortholog for ATXN2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATXN2L Gene

Gene Tree for ATXN2L (if available)
Gene Tree for ATXN2L (if available)

Paralogs for ATXN2L Gene

Paralogs for ATXN2L Gene

(1) SIMAP similar genes for ATXN2L Gene using alignment to 10 proteins: Pseudogenes for ATXN2L Gene

genes like me logo Genes that share paralogs with ATXN2L: view

Variants for ATXN2L Gene

Sequence variations from dbSNP and Humsavar for ATXN2L Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000477945 -- 28,823,397(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1000656012 -- 28,824,814(+) C/T intron_variant
rs1000671872 -- 28,836,987(+) T/ 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000743196 -- 28,829,577(+) T/C intron_variant
rs1001003790 -- 28,824,686(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN2L Gene

Variant ID Type Subtype PubMed ID
dgv2830n100 CNV gain 25217958
dgv2831n100 CNV gain 25217958
dgv4983n54 CNV gain 21841781
dgv4984n54 CNV gain+loss 21841781
dgv4985n54 CNV gain 21841781
dgv4986n54 CNV loss 21841781
dgv4987n54 CNV gain 21841781
esv26988 CNV loss 19812545
esv2758640 CNV gain+loss 17122850
esv3570454 CNV gain 25503493
esv3638345 CNV gain 21293372
esv3892826 CNV gain+loss 25118596
nsv1059555 CNV gain 25217958
nsv1064483 CNV loss 25217958
nsv1066415 CNV gain 25217958
nsv518648 CNV loss 19592680
nsv519100 CNV gain 19592680
nsv571792 CNV gain 21841781
nsv571799 CNV gain 21841781
nsv571805 CNV loss 21841781
nsv974792 CNV duplication 23825009

Variation tolerance for ATXN2L Gene

Residual Variation Intolerance Score: 2.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATXN2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN2L Gene

Disorders for ATXN2L Gene

Additional Disease Information for ATXN2L

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ATXN2L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATXN2L Gene

Publications for ATXN2L Gene

  1. Identification and expression of the gene for human ataxin-2-related protein on chromosome 16. (PMID: 14769358) Figueroa KP … Pulst SM (Experimental neurology 2003) 2 3 4 22 58
  2. Cloning and characterization of a family of proteins associated with Mpl. (PMID: 11784712) Meunier C … Courtois G (The Journal of biological chemistry 2002) 2 3 4 22 58
  3. PRMT1-mediated arginine methylation controls ATXN2L localization. (PMID: 25748791) Kaehler C … Krobitsch S (Experimental cell research 2015) 3 4 58
  4. Ataxin-2-like is a regulator of stress granules and processing bodies. (PMID: 23209657) Kaehler C … Krobitsch S (PloS one 2012) 3 4 58
  5. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PMID: 20473688) Amre DK … Levy E (Human genetics 2010) 3 44 58

Products for ATXN2L Gene

Sources for ATXN2L Gene

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