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Aliases for ATXN2L Gene

Aliases for ATXN2L Gene

  • Ataxin 2-Like 2 3
  • A2D 3 4 6
  • Ataxin-2-Related Protein 3 4
  • Ataxin-2 Domain Protein 3 4
  • A2LG 3 4
  • A2LP 3 4
  • A2RP 3 4
  • Ataxin 2 Related Protein 3
  • Ataxin-2-Like Protein 3

External Ids for ATXN2L Gene

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. 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

Genomic Location for ATXN2L Gene

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

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys106, Lys207, and Lys507

No data available for DME Specific Peptides for ATXN2L Gene

Domains for ATXN2L Gene

Protein Domains for ATXN2L Gene

UniProtKB/Swiss-Prot:

ATX2L_HUMAN
Family:
  • Belongs to the ataxin-2 family.:
    • Q8WWM7
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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 4
mitochondrion 1

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 for ATXN2L Gene

SuperPathways for ATXN2L Gene

No Data Available

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

Transcripts for ATXN2L Gene

Unigene Clusters for ATXN2L Gene

Ataxin 2-like:
Representative Sequences:

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

Integrated Proteomics: protein expression 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 expressions with ATXN2L: view

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 36
  • 97.2 (n)
  • 97 (a)
ATXN2L 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN2L 36
  • 91.95 (n)
  • 96.65 (a)
ATXN2L 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN2L 36
  • 92.88 (n)
  • 97.37 (a)
ATXN2L 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn2l 36
  • 88.88 (n)
  • 94.62 (a)
Atxn2l 16
Atxn2l 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATXN2L 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN2L 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn2l 36
  • 88.18 (n)
  • 93.16 (a)
lizard
(Anolis carolinensis)
Reptilia ATXN2L 37
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14045 36
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn2l 36
  • 68.8 (n)
  • 71.19 (a)
zebrafish
(Danio rerio)
Actinopterygii atxn2l 36
  • 56.6 (n)
  • 53.79 (a)
atxn2l 37
  • 40 (a)
OneToOne
wufi19h05 36
fruit fly
(Drosophila melanogaster)
Insecta Atx2 37
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atx-2 37
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBP1 37
  • 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

Selected 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
rs1140135 -- 28,836,103(+) TACCC(A/C)TACAT synonymous-codon, reference, nc-transcript-variant
rs1140136 -- 28,836,224(+) AGGGG(A/C)TGCAG missense, reference, intron-variant, nc-transcript-variant
rs1140137 -- 28,836,304(+) CCCGC(C/T)GACCT utr-variant-3-prime, intron-variant, nc-transcript-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

Relevant External Links for ATXN2L Gene

HapMap Linkage Disequilibrium report
ATXN2L

Disorders for ATXN2L Gene

(1) MalaCards Diseases for ATXN2L Gene

Search for ATXN2L Gene in MalaCards »

(1) University of Copenhagen DISEASES for ATXN2L Gene

Relevant External Links for ATXN2L

Genetic Association Database (GAD)
ATXN2L
Human Genome Epidemiology (HuGE) Navigator
ATXN2L
genes like me logo Genes that share disorders with ATXN2L: view

No data available for UniProtKB/Swiss-Prot for ATXN2L Gene

Publications for ATXN2L Gene

  1. 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 23
  2. 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 23
  3. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. (PMID: 8896555) Pulst S.-M. … Sahba S. (Nat. Genet. 1996) 3 4
  4. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill L.M. … Peters E.C. (Anal. Chem. 2004) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for ATXN2L Gene

Sources for ATXN2L Gene

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