Human Gene ATXN2L (ENST00000336783.9_8) from GENCODE V47lift37
  Description: ataxin 2 like, transcript variant 1 (from RefSeq NM_007245.4)
Gencode Transcript: ENST00000336783.9_8
Gencode Gene: ENSG00000168488.19_17
Transcript (Including UTRs)
   Position: hg19 chr16:28,834,320-28,848,553 Size: 14,234 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr16:28,834,581-28,847,586 Size: 13,006 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:28,834,320-28,848,553)mRNA (may differ from genome)Protein (1075 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATX2L_HUMAN
DESCRIPTION: RecName: Full=Ataxin-2-like protein; AltName: Full=Ataxin-2 domain protein; AltName: Full=Ataxin-2-related protein;
SUBUNIT: Interacts with MPL/TPOR and EPOR and dissociates after ligand stimulation.
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
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.
PTM: Thrombopoietin triggers the phosphorylation on tyrosine residues in a way that is dependent on MPL C-terminal domain.
PTM: Arg-361 is dimethylated, probably to asymmetric dimethylarginine.
SIMILARITY: Belongs to the ataxin-2 family.
SEQUENCE CAUTION: Sequence=AAC69607.1; Type=Frameshift; Positions=31, 429, 432, 446; Sequence=AAO12056.1; Type=Frameshift; Positions=Several; Sequence=AAO12057.1; Type=Frameshift; Positions=Several; Sequence=AAO12058.1; Type=Frameshift; Positions=Several; Sequence=AAO12058.1; Type=Miscellaneous discrepancy; Note=Exon duplication; Sequence=AAO12059.1; Type=Frameshift; Positions=Several; Sequence=AAO12059.1; Type=Miscellaneous discrepancy; Note=Exon duplication; Sequence=AAO12060.1; Type=Frameshift; Positions=Several; Sequence=AAO12060.1; Type=Miscellaneous discrepancy; Note=Exon duplication;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 128.69 RPKM in Testis
Total median expression: 1943.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.70261-0.367 Picture PostScript Text
3' UTR -377.40967-0.390 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009818 - Ataxin-2_C
IPR009604 - LsmAD_domain
IPR025852 - SM_dom_ATX

Pfam Domains:
PF06741 - LsmAD domain
PF07145 - Ataxin-2 C-terminal region
PF14438 - Ataxin 2 SM domain

SCOP Domains:
50182 - Sm-like ribonucleoproteins

ModBase Predicted Comparative 3D Structure on Q8WWM7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0010603 regulation of cytoplasmic mRNA processing body assembly
GO:0034063 stress granule assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AF034373 - Homo sapiens ataxin-2-like protein A2LP (A2LG) mRNA, complete cds.
AY188334 - Homo sapiens ataxin-2-like protein (A2RP) mRNA, complete cds; alternatively spliced.
AY188335 - Homo sapiens ataxin-2-like protein (A2RP) mRNA, complete cds; alternatively spliced.
AY188336 - Homo sapiens ataxin-2-like protein (A2RP) mRNA, complete cds; alternatively spliced.
AY188337 - Homo sapiens ataxin-2-like protein (A2RP) mRNA, complete cds; alternatively spliced.
AY188338 - Homo sapiens ataxin-2-like protein (A2RP) mRNA, complete cds; alternatively spliced.
AK289981 - Homo sapiens cDNA FLJ77026 complete cds, highly similar to Homo sapiens ataxin 2-like (ATXN2L), transcript variant E, mRNA.
BC068012 - Homo sapiens ataxin 2-like, mRNA (cDNA clone IMAGE:6169527), partial cds.
AJ317972 - Homo sapiens mRNA for ataxin-2 related domain protein (A2D-C gene).
AJ317971 - Homo sapiens mRNA for ataxin-2 related domain protein (A2D-B gene).
AJ317970 - Homo sapiens mRNA for ataxin-2 related domain protein (A2D-A gene).
AJ317973 - Homo sapiens mRNA for ataxin-2 related domain protein (A2D-D gene).
AJ317974 - Homo sapiens mRNA for ataxin-2 related domain protein (A2D-E gene).
BC144269 - Homo sapiens cDNA clone IMAGE:9052789, containing frame-shift errors.
BC136584 - Homo sapiens ataxin 2-like, mRNA (cDNA clone MGC:168197 IMAGE:9020574), complete cds.
BC082760 - Homo sapiens ataxin 2-like, mRNA (cDNA clone MGC:99468 IMAGE:5812230), complete cds.
U70671 - Human ataxin-2 related protein mRNA, partial cds.
JD123669 - Sequence 104693 from Patent EP1572962.
JD389517 - Sequence 370541 from Patent EP1572962.
JD503998 - Sequence 485022 from Patent EP1572962.
JD253733 - Sequence 234757 from Patent EP1572962.
BC050437 - Homo sapiens mRNA similar to ataxin 2 related protein (cDNA clone IMAGE:6205500).
AF070605 - Homo sapiens clone 24810 mRNA sequence.
BC010239 - Homo sapiens ataxin 2-like, mRNA (cDNA clone IMAGE:4153822), partial cds.
AL137587 - Homo sapiens mRNA; cDNA DKFZp434J1410 (from clone DKFZp434J1410).
JD498668 - Sequence 479692 from Patent EP1572962.
JD191042 - Sequence 172066 from Patent EP1572962.
JD163514 - Sequence 144538 from Patent EP1572962.
JD113872 - Sequence 94896 from Patent EP1572962.
LF340149 - JP 2014500723-A/147652: Polycomb-Associated Non-Coding RNAs.
JD259948 - Sequence 240972 from Patent EP1572962.
JD125913 - Sequence 106937 from Patent EP1572962.
JD066772 - Sequence 47796 from Patent EP1572962.
JD171988 - Sequence 153012 from Patent EP1572962.
JD077319 - Sequence 58343 from Patent EP1572962.
JD512960 - Sequence 493984 from Patent EP1572962.
JD219050 - Sequence 200074 from Patent EP1572962.
JD327284 - Sequence 308308 from Patent EP1572962.
JD113032 - Sequence 94056 from Patent EP1572962.
MA575726 - JP 2018138019-A/147652: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A2D, A2LG, A2LP, A2RP, A8K1R6, ATX2L_HUMAN, B9EGM2, E9PAR9, ENST00000336783.1, ENST00000336783.2, ENST00000336783.3, ENST00000336783.4, ENST00000336783.5, ENST00000336783.6, ENST00000336783.7, ENST00000336783.8, NM_007245, O95135, Q63ZY4, Q6NVJ8, Q6PJW6, Q8IU61, Q8IU95, Q8WWM3, Q8WWM4, Q8WWM5, Q8WWM6, Q8WWM7, Q99703, uc317upp.1, uc317upp.2
UCSC ID: ENST00000336783.9_8
RefSeq Accession: NM_007245.4
Protein: Q8WWM7 (aka ATX2L_HUMAN or ATXL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.