ATXN2

GENE INFORMATION

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Gene name

ATXN2 (HGNC Symbol)

Synonyms

ATX2, SCA2, TNRC13

Description

ataxin 2 (HGNC Symbol)

Entrez gene summary

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]

Chromosome

12 (Chromosome progress)

Cytoband

q24.12

Chromosome location (bp)

111890018 - 112037480

Ensembl

ENSG00000204842 (version 73.37)

Entrez gene

6311

UniProt

Q99700 (UniProt - Evidence at protein level)

neXtProt

NX_Q99700

Antibodypedia

ATXN2 antibodies
 

PROTEIN VIEW

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 « 
 
ATXN2-001
 
ATXN2-002
 
ATXN2-004
 
ATXN2-005
 
ATXN2-009
 
ATXN2-011
 
ATXN2-012
 
ATXN2-013
 
ATXN2-016
 
ATXN2-018
 
ATXN2-019
 
ATXN2-021
 
ATXN2-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATXN2-001 ENSP00000366843
ENST00000377617
Q99700
Show all »
Show » Show » 1313 140.3 No 0
ATXN2-002 ENSP00000373805
ENST00000389153
F8WB06
Show all »
Show » 1050 113.9 No 0
ATXN2-004 ENSP00000373806
ENST00000389154
F8WB05
Show all »
Show » 424 45.8 No 0
ATXN2-005 ENSP00000446512
ENST00000483311
F8VQS0
Show all »
Show » Show » 916 98 No 0
ATXN2-009 ENSP00000447225
ENST00000492467
F8W0B5
Show all »
285 30.6 No 0
ATXN2-011 ENSP00000445583
ENST00000542287
F8VQP2
Show all »
Show » 1073 116.5 No 0
ATXN2-012 ENSP00000447741
ENST00000550844
F8VZC1
Show all »
197 21.1 No 0
ATXN2-013 ENSP00000474645
ENST00000475132
119 12.4 No 0
ATXN2-016 ENSP00000439338
ENST00000535949
Q24JQ7
Show all »
Show » 1006 109 No 0
ATXN2-018 ENSP00000449566
ENST00000548492
F8VVY6
Show all »
184 20.7 No 0
ATXN2-019 ENSP00000448640
ENST00000550236
F8VRK6
Show all »
235 25.7 No 0
ATXN2-021 ENSP00000474442
ENST00000551755
107 11.8 No 0
ATXN2-201 ENSP00000446576
ENST00000550104
Q99700
Show all »
Show » Show » 995 106 No 0