Version 5.4
Homo sapiens Gene: ARX
Summary
InnateDB Gene IDBG-53308.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARX
Gene Name aristaless related homeobox
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000004848
Encoded Proteins
IDBP-53310
aristaless related homeobox
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:25003694-25015948
Strand Reverse strand
Band p21.3
Transcripts
ENST00000379044 ENSP00000368332
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0001206 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001764 neuron migration
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007411 axon guidance
GO:0021759 globus pallidus development
GO:0021772 olfactory bulb development
GO:0021800 cerebral cortex tangential migration
GO:0021831 embryonic olfactory bulb interneuron precursor migration
GO:0021846 cell proliferation in forebrain
GO:0021853 cerebral cortex GABAergic interneuron migration
GO:0030900 forebrain development
GO:0042127 regulation of cell proliferation
GO:0044241 lipid digestion
GO:0046622 positive regulation of organ growth
GO:0072148 epithelial cell fate commitment
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000035277
View Gene Order
Cross-References
SwissProt Q96QS3
TrEMBL
UniProt Splice Variant
Entrez Gene 170302
UniGene Hs.300304 Hs.614435
RefSeq NM_139058
HUGO HGNC:18060
OMIM 300382
CCDS CCDS14215
HPRD
IMGT
EMBL AY038071
GenPept AAK93901
RNA Seq Atlas 170302

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca