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Aliases for ATXN2L Gene

Aliases for ATXN2L Gene

  • Ataxin 2-Like 2 3
  • 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

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. Diseases associated with ATXN2L include spinocerebellar ataxia 2. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is ATXN2.

Gene Wiki entry for ATXN2L Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN2L Gene

Genomics for ATXN2L Gene

Regulatory Elements for ATXN2L Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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

Proteomics data for ATXN2L Gene at MOPED

Post-translational modifications for ATXN2L Gene

  • Arg-361 is dimethylated, probably to asymmetric dimethylarginine
  • 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

Antibody Products

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

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
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN2L

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATXN2L Gene COMPARTMENTS Subcellular localization image for ATXN2L gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ATXN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0010494 cytoplasmic stress granule IDA 23209657
GO:0016020 membrane IDA 11784712
GO:0016607 nuclear speck IDA 23209657
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
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN2L

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 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, MOPED, and MaxQB for ATXN2L Gene



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

Protein tissue co-expression partners for ATXN2L Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ATXN2L 35
  • 91.95 (n)
  • 96.65 (a)
ATXN2L 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN2L 35
  • 92.88 (n)
  • 97.37 (a)
ATXN2L 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn2l 35
  • 88.88 (n)
  • 94.62 (a)
Atxn2l 16
Atxn2l 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATXN2L 35
  • 97.2 (n)
  • 97 (a)
ATXN2L 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn2l 35
  • 88.18 (n)
  • 93.16 (a)
oppossum
(Monodelphis domestica)
Mammalia ATXN2L 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN2L 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN2L 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn2l 35
  • 68.8 (n)
  • 71.19 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14045 35
zebrafish
(Danio rerio)
Actinopterygii atxn2l 35
  • 56.6 (n)
  • 53.79 (a)
wufi19h05 35
atxn2l 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Atx2 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atx-2 36
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBP1 36
  • 17 (a)
OneToMany
Species with no ortholog for ATXN2L:
  • 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 MAF
rs1140131 -- 28,823,448(+) GTGGC(C/T)GCTGC reference, synonymous-codon, upstream-variant-2KB, nc-transcript-variant
rs1140134 -- 28,835,147(+) CCTCA(A/G/T)TACCC synonymous-codon, reference, missense, nc-transcript-variant
rs3934530 -- 28,825,494(-) TACAT(C/T)AGACT intron-variant
rs4344749 -- 28,830,990(-) GGCCG(C/T)TGTGC synonymous-codon, reference, nc-transcript-variant
rs4451951 -- 28,824,884(-) AGAAA(A/G)AAATA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv842e1 CNV Complex 17122850
dgv843e1 CNV Complex 17122850
nsv905698 CNV Gain 21882294
dgv844e1 CNV Complex 17122850
nsv905700 CNV Loss 21882294
nsv905701 CNV Loss 21882294
nsv905702 CNV Gain+Loss 21882294
nsv905703 CNV Loss 21882294
esv26988 CNV Loss 19812545
nsv518648 CNV Loss 19592680
nsv519100 CNV Gain 19592680

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

HapMap Linkage Disequilibrium report
ATXN2L

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

Disorders for ATXN2L Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATXN2L Gene - From: GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 2
  • amyotrophic lateral sclerosis 13
- elite association

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

No data available for 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 23 67
  2. Cloning and characterization of a family of proteins associated with Mpl. (PMID: 11784712) Meunier C.F. … Courtois G. (J. Biol. Chem. 2002) 2 23 67
  3. A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation. (PMID: 12524342) Satterfield T.F. … Pallanck L.J. (Genetics 2002) 23 67
  4. Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. (PMID: 9989626) Huynh D.P. … Pulst S.M. (Ann. Neurol. 1999) 23 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for ATXN2L Gene

Sources for ATXN2L Gene

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