InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: ATXN2

Summary

InnateDB Gene

IDBG-633205.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATXN2

Gene Name

Uncharacterized protein

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000022069

Encoded Proteins

IDBP-684966

ataxin 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000204842:
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 17:57425985-57527920

Strand

Reverse strand

Band

Transcripts

ENSBTAT00000029620

ENSBTAP00000029618

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 37 interaction(s) predicted by orthology.

Predicted by orthology
Total	37 [view]

Gene Ontology

Molecular Function

Accession	GO Term
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: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: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

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000204842

View Gene Order

ENSMUSG00000042605

View Gene Order

Pathway Predictions based on Human Orthology Data

NETPATH

NetPath_4

EGFR1 pathway

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Bt.62196

RefSeq

XM_002694500 XM_005195040 XM_005195041 XM_005195044 XM_005217987 XM_005217988 XM_005217991 XM_611789

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

GenPept

RNA Seq Atlas