Homo sapiens Gene: ATXN2
Summary
InnateDB Gene IDBG-57479.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATXN2
Gene Name ataxin 2
Synonyms ASL13; ATX2; SCA2; TNRC13;
Species Homo sapiens
Ensembl Gene ENSG00000204842
Encoded Proteins
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
ataxin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:111452214-111599676
Strand Reverse strand
Band q24.12
Transcripts
ENST00000377617 ENSP00000366843
ENST00000389154 ENSP00000373806
ENST00000389153 ENSP00000373805
ENST00000392645
ENST00000483311 ENSP00000446512
ENST00000484991
ENST00000482777
ENST00000475132 ENSP00000474645
ENST00000468920
ENST00000495342
ENST00000492467 ENSP00000447225
ENST00000481331
ENST00000471866
ENST00000535949 ENSP00000439338
ENST00000542287 ENSP00000445583
ENST00000550844 ENSP00000447741
ENST00000551551
ENST00000550889
ENST00000551755 ENSP00000474442
ENST00000552323
ENST00000546483
ENST00000550236 ENSP00000448640
ENST00000549455
ENST00000548492 ENSP00000449566
ENST00000550104 ENSP00000446576
ENST00000608853 ENSP00000476504
ENST00000616825 ENSP00000481448
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 50 [view]
Protein-Protein 49 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0005154 epidermal growth factor receptor binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0002091 negative regulation of receptor internalization
GO:0006417 regulation of translation
GO:0008219 cell death
GO:0016070 RNA metabolic process
GO:0021702 cerebellar Purkinje cell differentiation
GO:0033962 cytoplasmic mRNA processing body assembly
GO:0034063 stress granule assembly
GO:0040015 negative regulation of multicellular organism growth
GO:0048812 neuron projection morphogenesis
GO:0048872 homeostasis of number of cells
GO:0050658 RNA transport
GO:0050905 neuromuscular process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005844 polysome
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0030529 ribonucleoprotein complex
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q99700
TrEMBL D2CTA3 D2CTA5 D2CTA6 F8VQP2 F8VVY6 F8VZC1 F8WB05 F8WB06 Q24JQ7 Q2M2R5 S4R3R6 V9GY86
UniProt Splice Variant
Entrez Gene 6311
UniGene Hs.679356 Hs.732512 Hs.76253
RefSeq NM_002973
HUGO HGNC:10555
OMIM 601517
CCDS CCDS31902
HPRD
IMGT
EMBL AC002395 AC137055 AK128613 BC111757 BC114546 EU796974 EU796975 EU796976 EU796977 U70323 Y08262
GenPept AAB19200 AAI11758 AAI14547 ACJ05009 ACJ05010 ACJ05011 ACJ05012 BAC87528 CAA69589
RNA Seq Atlas 6311