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] See more...

Aliases for ATXN2L Gene

Aliases for ATXN2L Gene

  • Ataxin 2 Like 2 3 5
  • A2D 2 3 4
  • Ataxin-2 Domain Protein 3 4
  • Ataxin-2-Like Protein 3 4
  • A2LG 3 4
  • A2LP 3 4
  • A2RP 3 4
  • Ataxin 2 Related Protein 3
  • Ataxin-2-Related Protein 4
  • Ataxin 2-Like 2
  • ATXN2L 5
  • A2lp 2

External Ids for ATXN2L Gene

Previous GeneCards Identifiers for ATXN2L Gene

  • GC16P028741
  • GC16P028834
  • GC16P026701
  • GC16P028836
  • GC16P028883

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 and Niemann-Pick Disease, Type C2. Among its related pathways are Spinocerebellar ataxia. An important paralog of this gene is ATXN2.

UniProtKB/Swiss-Prot Summary for ATXN2L Gene

Gene Wiki entry for ATXN2L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN2L Gene

Genomics for ATXN2L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATXN2L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATXN2L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN2L

Top Transcription factor binding sites by QIAGEN in the ATXN2L gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-2
  • FOXD3
  • HEN1
  • Sox5

Genomic Locations for ATXN2L Gene

Genomic Locations for ATXN2L Gene
chr16:28,823,035-28,837,237
(GRCh38/hg38)
Size:
14,203 bases
Orientation:
Plus strand
chr16:28,834,356-28,848,558
(GRCh37/hg19)
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; Evidence={ECO:0000305}; Sequence=AAO12056.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAO12057.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAO12058.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAO12058.1; Type=Miscellaneous discrepancy; Note=Exon duplication.; Evidence={ECO:0000305}; Sequence=AAO12059.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAO12059.1; Type=Miscellaneous discrepancy; Note=Exon duplication.; Evidence={ECO:0000305}; Sequence=AAO12060.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAO12060.1; Type=Miscellaneous discrepancy; Note=Exon duplication.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 6]: Due to intron retention.

    Alternative splice isoforms for ATXN2L Gene

neXtProt entry for ATXN2L Gene

Post-translational modifications for ATXN2L Gene

  • Thrombopoietin triggers the phosphorylation on tyrosine residues in a way that is dependent on MPL C-terminal domain.
  • Asymmetrically dimethylated. Probably methylated by PRMT1.
  • Ubiquitination at Lys106, Lys207, and Lys507
  • 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

InterPro:
Blocks:
  • Ataxin-2, C-terminal
  • Ataxin-2, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for ATXN2L Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77026, highly similar to Homo sapiens ataxin 2-like (ATXN2L), transcript variant E, mRNA (A8K1R6_HUMAN)
  • Ataxin-2-related protein (ATX2L_HUMAN)
  • ATXN2L protein (Q63ZY4_HUMAN)

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

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 21873635
GO:0005515 protein binding IPI 11784712
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with ATXN2L: view
genes like me logo Genes that share phenotypes with ATXN2L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2L

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

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 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 IBA,IDA 23209657
GO:0016020 membrane IEA,IDA 11784712
genes like me logo Genes that share ontologies with ATXN2L: view

Pathways & Interactions for ATXN2L Gene

PathCards logo

SuperPathways for ATXN2L Gene

SuperPathway Contained pathways
1 Spinocerebellar ataxia
genes like me logo Genes that share pathways with ATXN2L: view

Pathways by source for ATXN2L Gene

1 KEGG pathway for ATXN2L Gene

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 IBA,IMP 23209657
genes like me logo Genes that share ontologies with ATXN2L: view

Drugs & Compounds for ATXN2L Gene

No Compound Related Data Available

Transcripts for ATXN2L Gene

mRNA/cDNA for ATXN2L Gene

7 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2L

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: - - - - - -
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

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, MaxQB, and MOPED for ATXN2L Gene



Protein tissue co-expression partners for ATXN2L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ATXN2L Gene

  • Nervous system(4.7)
  • Skin(4.5)
  • Liver(4.4)
  • Intestine(2.3)
  • Muscle(2.2)
  • Heart(2.2)
  • Bone marrow(2.1)
  • Spleen(2.1)
  • Lung(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
Chimpanzee
(Pan troglodytes)
Mammalia ATXN2L 30 31
  • 97.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATXN2L 30 31
  • 92.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATXN2L 30 31
  • 91.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atxn2l 30 17 31
  • 88.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atxn2l 30
  • 88.18 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATXN2L 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATXN2L 31
  • 75 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATXN2L 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atxn2l 30
  • 68.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14045 30
Zebrafish
(Danio rerio)
Actinopterygii atxn2l 30 31
  • 56.6 (n)
OneToOne
wufi19h05 30
Fruit Fly
(Drosophila melanogaster)
Insecta Atx2 31
  • 15 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea atx-2 31
  • 17 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBP1 31
  • 17 (a)
OneToMany
Species where no ortholog for ATXN2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ATXN2L: view image

Paralogs for ATXN2L Gene

Paralogs for ATXN2L Gene

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

  • ATX2L_HUMAN
  • H3BMX1_HUMAN
  • H3BPQ7_HUMAN
  • H3BQ14_HUMAN
  • H3BQX7_HUMAN
  • H3BRB0_HUMAN
  • H3BSK9_HUMAN
  • H3BSQ5_HUMAN
  • H3BUE3_HUMAN
  • H3BUF6_HUMAN

Pseudogenes.org Pseudogenes for ATXN2L Gene

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

Variants for ATXN2L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN2L Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
689662 Uncertain Significance: Marfanoid habitus and intellectual disability 28,829,968(+) T/C MISSENSE_VARIANT
714697 Benign: not provided 28,834,672(+) C/T SYNONYMOUS_VARIANT
775041 Benign: not provided 28,825,688(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ATXN2L Gene

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
ATXN2L

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

Disorders for ATXN2L Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATXN2L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 2
  • sca2
niemann-pick disease, type c2
  • npc2
algoneurodystrophy
  • reflex sympathetic dystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATXN2L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 KP … Pulst SM (Experimental neurology 2003) 2 3 4 23
  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 23
  3. PRMT1-mediated arginine methylation controls ATXN2L localization. (PMID: 25748791) Kaehler C … Krobitsch S (Experimental cell research 2015) 3 4
  4. Ataxin-2-like is a regulator of stress granules and processing bodies. (PMID: 23209657) Kaehler C … Krobitsch S (PloS one 2012) 3 4
  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 41

Products for ATXN2L Gene

Sources for ATXN2L Gene