ATXN2

GENERAL INFORMATION

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Gene name

ATXN2

Gene description

Ataxin 2

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

13
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression, predominately in the CNS.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA018295 , HPA020339 , HPA021146
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

q24.12

Chromosome location (bp)

111452214 - 111599676

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000204842 (version 78.38)

Entrez gene

6311

UniProt

Q99700 (UniProt - Evidence at protein level)

neXtProt

NX_Q99700

Antibodypedia

ATXN2 antibodies


PROTEIN BROWSER

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ENST00000377617
 
ENST00000389153
 
ENST00000389154
 
ENST00000475132
 
ENST00000492467
 
ENST00000535949
 
ENST00000542287
 
ENST00000548492
 
ENST00000550104
 
ENST00000550236
 
ENST00000550844
 
ENST00000608853
 
ENST00000616825
 
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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 » Show » 1050 113.9 No 0
ATXN2-004 ENSP00000373806
ENST00000389154
F8WB05
Show all »
Show » 424 45.8 No 0
ATXN2-009 ENSP00000447225
ENST00000492467
Show » 296 31.8 No 0
ATXN2-011 ENSP00000445583
ENST00000542287
F8VQP2
Show all »
Show » Show » 1073 116.5 No 0
ATXN2-012 ENSP00000447741
ENST00000550844
F8VZC1
Show all »
Show » 196 20.9 No 0
ATXN2-013 ENSP00000474645
ENST00000475132
S4R3R6
Show all »
Show » 119 12.4 No 0
ATXN2-016 ENSP00000439338
ENST00000535949
Q24JQ7
Show all »
Show » Show » 1006 109 No 0
ATXN2-018 ENSP00000449566
ENST00000548492
F8VVY6
Show all »
Show » 184 20.7 No 0
ATXN2-019 ENSP00000448640
ENST00000550236
Show » 235 25.7 No 0
ATXN2-025 ENSP00000476504
ENST00000608853
V9GY86
Show all »
Show » 1153 124.4 No 0
ATXN2-201 ENSP00000446576
ENST00000550104
Q99700
Show all »
Show » Show » 1313 140.3 No 0
ATXN2-202 ENSP00000481448
ENST00000616825
Q24JQ7
Show all »
Show » Show » 1006 109 No 0