ATXN3

GENE INFORMATION

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Gene name

ATXN3 (HGNC Symbol)

Synonyms

ATX3, JOS, MJD, SCA3

Description

Ataxin 3 (HGNC Symbol)

Entrez gene summary

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]

Chromosome

14

Cytoband

q32.12

Chromosome location (bp)

92038652 - 92106621

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000066427 (version 78.38)

Entrez gene

4287

UniProt

P54252 (UniProt - Evidence at protein level)

neXtProt

NX_P54252

Antibodypedia

ATXN3 antibodies
 

PROTEIN VIEW

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ATXN3-001
 
ATXN3-003
 
ATXN3-004
 
ATXN3-005
 
ATXN3-008
 
ATXN3-014
 
ATXN3-015
 
ATXN3-017
 
ATXN3-019
 
ATXN3-020
 
ATXN3-026
 
ATXN3-029
 
ATXN3-032
 
ATXN3-201
 
ATXN3-202
 
ATXN3-203
 
ATXN3-204
 
ATXN3-205
 
ATXN3-206
 
 » 
 
 
 
 

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)

ATXN3-001 ENSP00000478320
ENST00000558190
P54252
Show all »
Show » Show » 361 41.2 No 0
ATXN3-003 ENSP00000339110
ENST00000340660
P54252
Show all »
Show » Show » 306 35 No 0
ATXN3-004 ENSP00000425322
ENST00000502250
P54252
Show all »
Show » Show » 182 20.6 No 0
ATXN3-005 ENSP00000426697
ENST00000503767
P54252
Show all »
Show » Show » 346 39.6 No 0
ATXN3-008 ENSP00000435571
ENST00000506466
E9PJN5
Show all »
Show » Show » 205 23.5 No 0
ATXN3-014 ENSP00000474067
ENST00000526872
S4R399
Show all »
Show » Show » 199 23 No 0
ATXN3-015 ENSP00000437157
ENST00000532032
P54252
Show all »
Show » Show » 364 41.8 No 1
ATXN3-017 ENSP00000451001
ENST00000555381
G3V328
Show all »
Show » Show » 260 30 No 0
ATXN3-019 ENSP00000451417
ENST00000554672
G3V3T6
Show all »
Show » Show » 232 26.7 No 0
ATXN3-020 ENSP00000450642
ENST00000557311
G3V2G2
Show all »
Show » Show » 151 17.3 No 0
ATXN3-026 ENSP00000451385
ENST00000554592
G3V3R7
Show all »
Show » Show » 329 37.7 No 0
ATXN3-029 ENSP00000450641
ENST00000556220
G3V2G1
Show all »
Show » Show » 223 25.4 No 0
ATXN3-032 ENSP00000451996
ENST00000553491
G3V4U9
Show all »
Show » Show » 278 31.6 No 0
ATXN3-201 ENSP00000376965
ENST00000393287
G3V4U9
Show all »
Show » Show » 310 35.1 No 0
ATXN3-202 ENSP00000389376
ENST00000429774
G3V328
Show all »
Show » Show » 291 33.4 No 0
ATXN3-203 ENSP00000445618
ENST00000545170
D3VVL3
Show all »
Show » Show » 370 42.4 No 0
ATXN3-204 ENSP00000481998
ENST00000617719
D3VVH9
Show all »
Show » Show » 301 34.8 No 0
ATXN3-205 ENSP00000484016
ENST00000620536
D3VVL3
Show all »
Show » Show » 324 37.7 No 0
ATXN3-206 ENSP00000481390
ENST00000621269
G3V4F4
Show all »
Show » Show » 288 33.1 No 0