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ataxin-2; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein (ATXN2, ATX2, SCA2, TNRC13)

Function: - protein of unknown function. Alternative splicing: named isoforms=4 Expression: - expressed in the brain, heart, liver, skeletal muscle, pancreas, placenta. - isoform 1 is predominant in brain, spinal cord - isoform 4 is more abundant in cerebellum Pathology: - CAG repeat expansion in SCA2 gene encoding ataxin-2 in spinocerebellar ataxia type 2 CAG repeat -> poly-Gln of ATXN2 is polymorphic, 17-29 repeats in normal population 36-52 repeats in spinocerebellar ataxia 2

Related

SCA2 gene

General

ataxin

Properties

SIZE: entity length = 1313 aa MW = 140 kD COMPARTMENT: cytoplasm MOTIF: proline-rich region SITE: 47-158 MOTIF: proline residue (SEVERAL) proline-rich region SITE: 55-64 MOTIF: proline residue (SEVERAL) glutamine-rich region {166-187} MOTIF: glutamine residue (SEVERAL) serine-rich region {213-223} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S466} proline-rich region SITE: 551-734 MOTIF: proline residue (SEVERAL) Ser phosphorylation site {S554} Ser phosphorylation site {S558} Ser phosphorylation site {S644} Ser phosphorylation site {S667} Ser phosphorylation site {S684} Thr phosphorylation site {T741} Ser phosphorylation site {S744} Ser phosphorylation site {S749} Thr phosphorylation site {T771} Ser phosphorylation site {S772} Ser phosphorylation site {S776} Ser phosphorylation site {S784} Ser phosphorylation site {S828} Ser phosphorylation site {S839} Ser phosphorylation site {S849} Ser phosphorylation site {S857} Ser phosphorylation site {S861} Ser phosphorylation site {S863} Ser phosphorylation site {S865} Ser phosphorylation site {S888} Ser phosphorylation site {S889} proline-rich region SITE: 929-1085 MOTIF: proline residue (SEVERAL)

Database Correlations

OMIM correlations UniProt Q99700 PFAM correlations Entrez Gene 6311 Kegg hsa:6311

References

  1. Pulst SM et al Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 14:269-76 1996 PMID: 8896555
  2. Sanpei K et al Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 14:277-84 1996 PMID: 8896556
  3. Imbert G et al Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 14:285-91 1996 PMID: 8896557
  4. Zoghbi HY The expanding world of ataxins. Nature Genet 14:237-8 1996 PMID: 8896544
  5. UniProt :accession Q99700
  6. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ATXN2