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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
External Ids for ATXN2L Gene
- HGNC: 31326
- Entrez Gene: 11273
- Ensembl: ENSG00000168488
- OMIM: 607931
- UniProtKB: Q8WWM7
Previous GeneCards Identifiers for ATXN2L Gene
- GC16P028741
- GC16P028834
- GC16P026701
- GC16P028836
- GC16P028883
Summaries 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
-
Involved in the regulation of stress granule and P-body formation.
Additional gene information for ATXN2L Gene
- HGNC(31326)
- Entrez Gene(11273)
- Ensembl(ENSG00000168488)
- OMIM(607931)
- UniProtKB(Q8WWM7)
- Open Targets Platform(ENSG00000168488)
- Monarch Initiative
- Search for ATXN2L at DataMed
- Search for ATXN2L at HumanCyc
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:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
ATXN2L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
- NX_Q8WWM7 (NX_Q8WWM7-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ATXN2L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005255118.1
- XP_005255119.1
- XP_005255120.1
- XP_005255121.1
- XP_005255122.1
- XP_005255123.1
- XP_005255124.1
- XP_005255125.1
- XP_005255126.1
- XP_005255127.1
- XP_005255128.1
- XP_005255131.1
- XP_005255132.1
- XP_005255133.1
- XP_005255134.1
- XP_006721070.1
- XP_006721071.1
- XP_006721072.1
- XP_006721073.1
- XP_006721074.1
- XP_006721075.1
- XP_011544021.1
- XP_011544024.1
- XP_016878380.1
- XP_016878381.1
- NP_001295159.1
- NP_009176.2
- NP_059867.3
- NP_663760.1
- NP_680780.1
- NP_680781.1
- NP_680782.1
Antibody Products
- G Biosciences Immunotag™ ATXN2L Antibody
-
Custom Antibody ServicesOriGene Antibodies for ATXN2L
- Novus Biologicals Antibodies for ATXN2L
- Invitrogen Antibodies for ATXN2L (AFLGC-ATXN2L)
-
Boster Bio Antibodies for ATXN2L
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ATXN2L
- Origene Custom Protein Services for ATXN2L
- Novus Biologicals proteins for ATXN2L
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- Family:
-
- Belongs to the ataxin-2 family.
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
| 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 |
Phenotypes for ATXN2L Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN2L - Select products 50% OFF >
- * ATXN2L CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATXN2L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN2L
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN2L
miRNA for ATXN2L Gene
- miRTarBase miRNAs that target ATXN2L
-
- hsa-miR-124-3p (MIRT023136)
- hsa-miR-34a-5p (MIRT025212)
- hsa-miR-26b-5p (MIRT030105)
- hsa-miR-16-5p (MIRT031977)
- hsa-miR-1301-3p (MIRT036019)
- hsa-miR-760 (MIRT036758)
- hsa-miR-744-5p (MIRT037491)
- hsa-miR-421 (MIRT039381)
- hsa-miR-18a-3p (MIRT040952)
- hsa-miR-324-3p (MIRT042988)
- hsa-miR-324-5p (MIRT043087)
- hsa-miR-326 (MIRT043652)
- hsa-miR-92a-3p (MIRT049467)
- hsa-let-7f-5p (MIRT051389)
- hsa-let-7e-5p (MIRT051554)
- hsa-let-7b-5p (MIRT051974)
- hsa-let-7a-5p (MIRT052632)
- hsa-miR-340-5p (MIRT195013)
- hsa-miR-4670-3p (MIRT195016)
- hsa-miR-5692a (MIRT195017)
- hsa-miR-3691-3p (MIRT544702)
- hsa-miR-141-5p (MIRT544703)
- hsa-miR-7161-3p (MIRT544704)
- hsa-miR-3156-5p (MIRT544705)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN2L
- Browse OriGene Inhibitory RNA Products For ATXN2L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2L
Clone Products
- Applied Biological Materials (abm): Clones for ATXN2L - Select products 50% OFF >
- * ATXN2L as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211531
- MR211531
- MR211531L3
- MR211531L4
- RC211491
- RC211491L3
- RC211491L4
- RC217637
- RC217637L3
- RC217637L4
- RC218035
- RC218035L3
- RC218035L4
- RC220683
- RC220683L3
- RC220683L4
- RC220752
- RC220752L3
- RC220752L4
- RC235148
- RG211491
- RG217637
- RG218035
- RG220683
- RG220752
- RG235148
- RR206457
- RR206457L3
- RR206457L4
- MR211531L3V
- MR211531L4V
- RC211491L3V
- RC211491L4V
- RC217637L3V
- RC217637L4V
- RC218035L3V
- RC218035L4V
- RC220683L3V
- RC220683L4V
- RC220752L3V
- RC220752L4V
- RR206457L3V
- RR206457L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATXN2L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN2L
Cell Line Products
-
Horizon Cell Lines for ATXN2L
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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Cytosol (4)
| 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 |
Pathways & Interactions for ATXN2L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Spinocerebellar ataxia | ||
Pathways by source for ATXN2L Gene
1 KEGG pathway for ATXN2L Gene
Interacting Proteins for ATXN2L Gene
Selected Interacting proteins:
Q8WWM7-ATX2L_HUMAN
ENSP00000378917
for ATXN2L Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ATXN2L
| 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 |
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 :
-
- ENST00000563314 4574 nts (view in UCSC)
- ENST00000340394 3807 nts (view in UCSC)
- ENST00000325215 3788 nts (view in UCSC)
- ENST00000395547 3981 nts (view in UCSC)
- ENST00000336783 4367 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN2L - Select products 50% OFF >
- * ATXN2L CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATXN2L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN2L
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN2L
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN2L
- Browse OriGene Inhibitory RNA Products For ATXN2L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2L
Clone Products
- Applied Biological Materials (abm): Clones for ATXN2L - Select products 50% OFF >
- * ATXN2L as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211531
- MR211531
- MR211531L3
- MR211531L4
- RC211491
- RC211491L3
- RC211491L4
- RC217637
- RC217637L3
- RC217637L4
- RC218035
- RC218035L3
- RC218035L4
- RC220683
- RC220683L3
- RC220683L4
- RC220752
- RC220752L3
- RC220752L4
- RC235148
- RG211491
- RG217637
- RG218035
- RG220683
- RG220752
- RG235148
- RR206457
- RR206457L3
- RR206457L4
- MR211531L3V
- MR211531L4V
- RC211491L3V
- RC211491L4V
- RC217637L3V
- RC217637L4V
- RC218035L3V
- RC218035L4V
- RC220683L3V
- RC220683L4V
- RC220752L3V
- RC220752L4V
- RR206457L3V
- RR206457L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATXN2L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN2L
| 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 embryonic tissues and stem cells from LifeMap Discovery
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN2L
SOURCE GeneReport for Unigene cluster for ATXN2L Gene:
Hs.460499mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ATXN2L
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATXN2L 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATXN2L 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATXN2L 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atxn2l 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atxn2l 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ATXN2L 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATXN2L 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATXN2L 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atxn2l 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14045 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atxn2l 30 31 |
|
OneToOne | |
| wufi19h05 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Atx2 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | atx-2 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PBP1 31 |
|
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
(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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN2L Gene
Disorders for ATXN2L Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 2 |
|
|
| niemann-pick disease, type c2 |
|
|
| algoneurodystrophy |
|
|
Search ATXN2L in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot and Genatlas for ATXN2L Gene
Publications for ATXN2L Gene
- 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
- 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
- PRMT1-mediated arginine methylation controls ATXN2L localization. (PMID: 25748791) Kaehler C … Krobitsch S (Experimental cell research 2015) 3 4
- Ataxin-2-like is a regulator of stress granules and processing bodies. (PMID: 23209657) Kaehler C … Krobitsch S (PloS one 2012) 3 4
- 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
ExternalLinks
Products for ATXN2L Gene
- Custom Antibody ServicesOriGene Antibodies for ATXN2L
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- RR206457L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- antibodies-online: Show 31 available ATXN2L Antibodies ranked by validation data
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN2L
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2L
- Boster Bio Antibodies for ATXN2L
- Browse Boster Bio ELISA Kits
Sources for ATXN2L Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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- (28) SAGE
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- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
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