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ATXN2

GENERAL INFORMATION

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

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues, most abundant in CNS.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA018295 , HPA020339 , HPA021146
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ATXN2 (HGNC Symbol)

Synonyms

 ATX2, SCA2, TNRC13

Description

 Ataxin 2 (HGNC Symbol)

Entrez gene summary

 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 protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2015]

Chromosome

 12

Cytoband

 q24.12

Chromosome location (bp)

 111452214 - 111599676

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000204842 (version 83.38)

Entrez gene

 6311

UniProt

 Q99700 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99700

Antibodypedia

 ATXN2 antibodies

PROTEIN BROWSER
«
ATXN2-001
ATXN2-002
ATXN2-004
ATXN2-009
ATXN2-011
ATXN2-012
ATXN2-013
ATXN2-016
ATXN2-018
ATXN2-019
ATXN2-025
ATXN2-201
ATXN2-202
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ATXN2-001
ENSP00000366843
ENST00000377617
Q99700 [Direct mapping]
Ataxin-2
Show all
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0003723 [RNA binding]
GO:0005154 [epidermal growth factor receptor binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005802 [trans-Golgi network]
GO:0005844 [polysome]
GO:0006417 [regulation of translation]
GO:0008022 [protein C-terminus binding]
GO:0010494 [cytoplasmic stress granule]
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
GO:0016020 [membrane]
GO:0016070 [RNA metabolic process]
GO:0021702 [cerebellar Purkinje cell differentiation]
GO:0030529 [ribonucleoprotein complex]
GO:0033962 [cytoplasmic mRNA processing body assembly]
GO:0034063 [stress granule assembly]
GO:0040015 [negative regulation of multicellular organism growth]
GO:0044822 [poly(A) RNA binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048812 [neuron projection morphogenesis]
GO:0048872 [homeostasis of number of cells]
GO:0050658 [RNA transport]
GO:0050905 [neuromuscular process]
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 1313 aa
140.3 kDa 		No 0
ATXN2-002
ENSP00000373805
ENST00000389153
F8WB06 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
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 1050 aa
113.9 kDa 		No 0
ATXN2-004
ENSP00000373806
ENST00000389154
F8WB05 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
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 424 aa
45.8 kDa 		No 0
ATXN2-009
ENSP00000447225
ENST00000492467
F8W0B5 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
Show all
 296 aa
31.8 kDa 		No 0
ATXN2-011
ENSP00000445583
ENST00000542287
F8VQP2 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
Show all
 1073 aa
116.5 kDa 		No 0
ATXN2-012
ENSP00000447741
ENST00000550844
F8VZC1 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
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 196 aa
20.9 kDa 		No 0
ATXN2-013
ENSP00000474645
ENST00000475132
S4R3R6 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
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 119 aa
12.4 kDa 		No 0
ATXN2-016
ENSP00000439338
ENST00000535949
Q99700 [Direct mapping]
Ataxin-2
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0003723 [RNA binding]
GO:0005154 [epidermal growth factor receptor binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005802 [trans-Golgi network]
GO:0005844 [polysome]
GO:0006417 [regulation of translation]
GO:0008022 [protein C-terminus binding]
GO:0010494 [cytoplasmic stress granule]
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
GO:0016020 [membrane]
GO:0016070 [RNA metabolic process]
GO:0030529 [ribonucleoprotein complex]
GO:0033962 [cytoplasmic mRNA processing body assembly]
GO:0034063 [stress granule assembly]
GO:0044822 [poly(A) RNA binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050658 [RNA transport]
Show all
 1006 aa
109 kDa 		No 0
ATXN2-018
ENSP00000449566
ENST00000548492
F8VVY6 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
Show all
 184 aa
20.7 kDa 		No 0
ATXN2-019
ENSP00000448640
ENST00000550236
F8VRK6 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
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 235 aa
25.7 kDa 		No 0
ATXN2-025
ENSP00000476504
ENST00000608853
V9GY86 [Direct mapping]
Ataxin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
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 1153 aa
124.4 kDa 		No 0
ATXN2-201
ENSP00000446576
ENST00000550104
Q99700 [Direct mapping]
Ataxin-2
Show all
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0003723 [RNA binding]
GO:0005154 [epidermal growth factor receptor binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005802 [trans-Golgi network]
GO:0005844 [polysome]
GO:0006417 [regulation of translation]
GO:0008022 [protein C-terminus binding]
GO:0010494 [cytoplasmic stress granule]
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
GO:0016020 [membrane]
GO:0016070 [RNA metabolic process]
GO:0030529 [ribonucleoprotein complex]
GO:0033962 [cytoplasmic mRNA processing body assembly]
GO:0034063 [stress granule assembly]
GO:0044822 [poly(A) RNA binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050658 [RNA transport]
Show all
 1313 aa
140.3 kDa 		No 0
ATXN2-202
ENSP00000481448
ENST00000616825
Q99700 [Direct mapping]
Ataxin-2
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0003723 [RNA binding]
GO:0005154 [epidermal growth factor receptor binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005802 [trans-Golgi network]
GO:0005844 [polysome]
GO:0006417 [regulation of translation]
GO:0008022 [protein C-terminus binding]
GO:0010494 [cytoplasmic stress granule]
GO:0010603 [regulation of cytoplasmic mRNA processing body assembly]
GO:0016020 [membrane]
GO:0016070 [RNA metabolic process]
GO:0030529 [ribonucleoprotein complex]
GO:0033962 [cytoplasmic mRNA processing body assembly]
GO:0034063 [stress granule assembly]
GO:0044822 [poly(A) RNA binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050658 [RNA transport]
Show all
 1006 aa
109 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.