QuickView for TNRC13;jsessionid=3D765BD25ABDC6EF1EDE0A75B9F1BD6C;jsessionid=84A7B1B8F90E10C4BB8EF198E8862C87;jsessionid=086624F9ED561E2247AC960DF604F403;jsessionid=47BD8608FF341F1D3328BD9EEC561979;jsessionid=A043B438A3B5591667B8740B38982408;jsessionid=597341C8321AA7CB23A6FED7FBBFA001;jsessionid=20CF677C5CA9F69025FA32B0252B15CE;jsessionid=6D113F22F44525B441FDFA8029FFEBE5;jsessionid=CCBD7430C8A5493F549F414D345B1F0B;jsessionid=30F87114A1F2BF0477FB6C32363E2A9E;jsessionid=10096D2E69228CFDD613510C18206836 (gene)

Gene Symbol:

ATXN2 Homo sapiens

Full name:

ataxin 2

Synonyms:

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

Genomic Location:

Chr 12: 110374401-110521863

Description:

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 globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and...

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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 globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTGTAG_MIR520D ,  AACTGGA_MIR145 ,  CTTTGTA_MIR524 ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497 ,  AAGCACA_MIR218

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-145 ,  Predicted Gene Targets for miR-15 ,  Predicted Gene Targets for miR-204 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-433-3p ,  Predicted Gene Targets for miR-503

Cytogenetic Map:

12q24.12

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