• Gene id: 11273

Gene Summary

• Gene Symbol: ATXN2L   Gene   UCSC   Ensembl
• Aliases: A2D, A2LG, A2LP, A2RP
• Gene name: ataxin 2 like
• Alternate names: ataxin-2-like protein, ataxin 2 related protein, ataxin-2 domain protein,
• Gene location: 16p11.2 (113875571: 113797874)     Exons: 28     NC_000011.10
• Gene summary(Entrez): 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 transcript
• OMIM: 607931

Protein Summary

• Protein general information: Q8WWM7  
  • Name: Ataxin 2 like protein (Ataxin 2 domain protein) (Ataxin 2 related protein)
  • Length: 1075  
  • Mass: 113374
  • 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. {ECO
• Sequence:

  MLKPQPLQQPSQPQQPPPTQQAVARRPPGGTSPPNGGLPGPLATSAAPPGPPAAASPCLGPVAAAGSGLRRGAEG
  ILAPQPPPPQQHQERPGAAAIGSARGQSTGKGPPQSPVFEGVYNNSRMLHFLTAVVGSTCDVKVKNGTTYEGIFK
  TLSSKFELAVDAVHRKASEPAGGPRREDIVDTMVFKPSDVMLVHFRNVDFNYATKDKFTDSAIAMNSKVNGEHKE
  KVLQRWEGGDSNSDDYDLESDMSNGWDPNEMFKFNEENYGVKTTYDSSLSSYTVPLEKDNSEEFRQRELRAAQLA
  REIESSPQYRLRIAMENDDGRTEEEKHSAVQRQGSGRESPSLASREGKYIPLPQRVREGPRGGVRCSSSRGGRPG
  LSSLPPRGPHHLDNSSPGPGSEARGINGGPSRMSPKAQRPLRGAKTLSSPSNRPSGETSVPPPPAVGRMYPPRSP
  KSAAPAPISASCPEPPIGSAVPTSSASIPVTSSVSDPGVGSISPASPKISLAPTDVKELSTKEPGRTLEPQELAR
  IAGKVPGLQNEQKRFQLEELRKFGAQFKLQPSSSPENSLDPFPPRILKEEPKGKEKEVDGLLTSEPMGSPVSSKT
  ESVSDKEDKPPLAPSGGTEGPEQPPPPCPSQTGSPPVGLIKGEDKDEGPVAEQVKKSTLNPNAKEFNPTKPLLSV
  NKSTSTPTSPGPRTHSTPSIPVLTAGQSGLYSPQYISYIPQIHMGPAVQAPQMYPYPVSNSVPGQQGKYRGAKGS
  LPPQRSDQHQPASAPPMMQAAAAAGPPLVAATPYSSYIPYNPQQFPGQPAMMQPMAHYPSQPVFAPMLQSNPRML
  TSGSHPQAIVSSSTPQYPSAEQPTPQALYATVHQSYPHHATQLHAHQPQPATTPTGSQPQSQHAAPSPVQHQAGQ
  APHLGSGQPQQNLYHPGALTGTPPSLPPGPSAQSPQSSFPQPAAVYAIHHQQLPHGFTNMAHVTQAHVQTGITAA
  PPPHPGAPHPPQVMLLHPPQSHGGPPQGAVPQSGVPALSASTPSPYPYIGHPQGEQPGQAPGFPGGADDRIREFS
  LAGGIWHGRAEGLQVGQDARVLGGE

• Structural information:
  • Interpro: IPR009818  IPR009604  IPR025852  
  • STRING: ENSP00000378917
• Other Databases: GeneCards:  ATXN2L  Malacards:  ATXN2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010494	cytoplasmic stress granule	IBA	cellular component
GO:0034063	stress granule assembly	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0010603	regulation of cytoplasmic mRNA processing body assembly	IBA	biological process
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0010603	regulation of cytoplasmic mRNA processing body assembly	IDA	biological process
GO:0034063	stress granule assembly	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)