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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. GO annotations related to this gene include poly(A) RNA binding. 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

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

Genomics for ATXN2L Gene

Regulatory Elements for ATXN2L Gene


Promoters for ATXN2L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000506066 565 2801 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for ATXN2L Gene

Chromosome:
16
Start:
28,823,035 bp from pter
End:
28,837,237 bp from pter
Size:
14,203 bases
Orientation:
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:
    Q8WWM7-ATX2L_HUMAN
    Recommended name:
    Ataxin-2-like protein
    Protein Accession:
    Q8WWM7
    Secondary Accessions:
    • A8K1R6
    • B9EGM2
    • E9PAR9
    • O95135
    • Q63ZY4
    • Q6NVJ8
    • Q6PJW6
    • Q8IU61
    • Q8IU95
    • Q8WWM3
    • Q8WWM4
    • Q8WWM5
    • Q8WWM6
    • Q99703

    Protein attributes for ATXN2L Gene

    Size:
    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).
    SequenceCaution:
    • 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 Lys 106, Lys 207, and Lys 507
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATXN2L Gene

Domains & Families for ATXN2L Gene

Protein Domains for ATXN2L Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWM7

UniProtKB/Swiss-Prot:

ATX2L_HUMAN :
  • Belongs to the ataxin-2 family.
Family:
  • Belongs to the ataxin-2 family.
genes like me logo Genes that share domains with ATXN2L: view

No data available for Gene Families for ATXN2L Gene

Function for ATXN2L Gene

Molecular function for ATXN2L Gene

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

Gene Ontology (GO) - Molecular Function for ATXN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11784712
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0098641 cadherin binding involved in cell-cell adhesion 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

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for ATXN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0010494 cytoplasmic stress granule IDA 23209657
GO:0016020 membrane IEA,IDA 11784712
GO:0016021 integral component of membrane IEA --
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

Inactivates:
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
GO:0098609 cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with ATXN2L: view

No data available for Pathways by source for ATXN2L Gene

Transcripts for ATXN2L Gene

Unigene Clusters for ATXN2L Gene

Ataxin 2-like:
Representative Sequences:

Clone Products

Flow Cytometry 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: - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8: - - - -
SP9: -
SP10: - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b
SP1:
SP2:
SP3:
SP4:
SP5: - -
SP6: - -
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14: -
SP15: - -
SP16:

Relevant External Links for ATXN2L Gene

GeneLoc Exon Structure for
ATXN2L
ECgene alternative splicing isoforms for
ATXN2L

Expression for ATXN2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

ATXN2L

SOURCE GeneReport for Unigene cluster for ATXN2L Gene:

Hs.460499

mRNA Expression by UniProt/SwissProt for ATXN2L Gene:

Q8WWM7-ATX2L_HUMAN
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.
genes like me logo Genes that share expression patterns with ATXN2L: view

Primer Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia ATXN2L 34 35
  • 97.2 (n)
dog
(Canis familiaris)
Mammalia ATXN2L 34 35
  • 92.88 (n)
cow
(Bos Taurus)
Mammalia ATXN2L 34 35
  • 91.95 (n)
mouse
(Mus musculus)
Mammalia Atxn2l 34 16 35
  • 88.88 (n)
rat
(Rattus norvegicus)
Mammalia Atxn2l 34
  • 88.18 (n)
oppossum
(Monodelphis domestica)
Mammalia ATXN2L 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN2L 35
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN2L 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn2l 34
  • 68.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14045 34
zebrafish
(Danio rerio)
Actinopterygii atxn2l 34 35
  • 56.6 (n)
wufi19h05 34
fruit fly
(Drosophila melanogaster)
Insecta Atx2 35
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atx-2 35
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBP1 35
  • 17 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ATXN2L (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs10658897 -- 28,831,263(+) CATGG(-/GTTGT)GTTGT intron-variant
rs111231313 -- 28,834,984(+) GCTGT(A/G)CACGC intron-variant
rs111686905 -- 28,837,603(+) TAGCC(A/T)GGCGT downstream-variant-500B
rs111707908 -- 28,823,834(+) CGGCG(C/T)CGTCG intron-variant, upstream-variant-2KB
rs111985930 -- 28,826,988(+) CATGG(A/C/T)ATAGC splice-donor-variant

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

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

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)

Relevant External Links for ATXN2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN2L

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

Disorders for ATXN2L Gene

Relevant External Links for ATXN2L

Genetic Association Database (GAD)
ATXN2L
Human Genome Epidemiology (HuGE) Navigator
ATXN2L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN2L

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 K.P. … Pulst S.M. (Exp. Neurol. 2003) 2 3 4 22 64
  2. Cloning and characterization of a family of proteins associated with Mpl. (PMID: 11784712) Meunier C.F. … Courtois G. (J. Biol. Chem. 2002) 2 3 4 22 64
  3. PRMT1-mediated arginine methylation controls ATXN2L localization. (PMID: 25748791) Kaehler C. … Krobitsch S. (Exp. Cell Res. 2015) 3 4 64
  4. Ataxin-2-like is a regulator of stress granules and processing bodies. (PMID: 23209657) Kaehler C. … Krobitsch S. (PLoS ONE 2012) 3 4 64
  5. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PMID: 20473688) Amre D.K. … Levy E. (Hum. Genet. 2010) 3 46 64

Products for ATXN2L Gene

Sources for ATXN2L Gene

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