• Gene id: 6311

Gene Summary

• Gene Symbol: ATXN2   Gene   UCSC   Ensembl
• Aliases: ATX2, SCA2, TNRC13
• Gene name: ataxin 2
• Alternate names: ataxin-2, spinocerebellar ataxia type 2 protein, trinucleotide repeat-containing gene 13 protein,
• Gene location: 12q24.12 (111599675: 111452213)     Exons: 26     NC_000012.12
• Gene summary(Entrez): This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globula

Protein Summary

• Protein general information: Q99700  
  • Name: Ataxin 2 (Spinocerebellar ataxia type 2 protein) (Trinucleotide repeat containing gene 13 protein)
  • Length: 1313  
  • Mass: 140283
  • Tissue specificity: Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate
• Sequence:

  MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGPGPPPSRQSSPPSASD
  CFGSNGNGGGAFRPGSRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPLGARASPPRSGVSLARPAPGCPRP
  ACEPVYGPLTMSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSAT
  APSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPK
  CDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWD
  AGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIES
  SAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMP
  SRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPS
  AHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSS
  VVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSR
  LQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLNKNREG
  EKSRDLIKDKIEPSAKDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPEVTSQGVQTSSPACKQEKDDKE
  EKKDAAEQVRKSTLNPNAKEFNPRSFSQPKPSTTPTSPRPQAQPSPSMVGHQQPTPVYTQPVCFAPNMMYPVPVS
  PGVQPLYPIPMTPMPVNQAKTYRAVPNMPQQRQDQHHQSAMMHPASAAGPPIAATPPAYSTQYVAYSPQQFPNQP
  LVQHVPHYQSQHPHVYSPVIQGNARMMAPPTHAQPGLVSSSATQYGAHEQTHAMYACPKLPYNKETSPSFYFAIS
  TGSLAQQYAHPNATLHPHTPHPQPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQALHLASPQQQSAIYHAGLAP
  TPPSMTPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNPPHMAHVPQAHVQSGMVPSHPTAHAPMMLMTTQPPG
  GPQAALAQSALQPIPVSTTAHFPYMTHPSVQAHHQQQL

• Structural information:
  • Interpro: IPR009818  IPR033093  IPR010920  IPR009604  IPR025852  
  • PDB: 3KTR
  • PDBsum: 3KTR
  • DIP: 33372
  • STRING: ENSP00000366843
• Other Databases: GeneCards:  ATXN2  Malacards:  ATXN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0033962	cytoplasmic mRNA processing body assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034063	stress granule assembly	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0050658	RNA transport	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	NAS	molecular function
GO:0016070	RNA metabolic process	NAS	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0006417	regulation of translation	NAS	biological process
GO:0034063	stress granule assembly	IBA	biological process
GO:0010494	cytoplasmic stress granule	IBA	cellular component
GO:0010603	regulation of cytoplasmic mRNA processing body assembly	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0005154	epidermal growth factor receptor binding	IPI	molecular function
GO:0002091	negative regulation of receptor internalization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq