InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARX

Summary

InnateDB Protein

IDBP-53310.6

Last Modified

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

Gene Symbol

ARX

Protein Name

aristaless related homeobox

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000368332

InnateDB Gene

IDBG-53308 (ARX)

Protein Structure

UniProt Annotation

Function

Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00138}.

Disease Associations

Lissencephaly, X-linked 2 (LISX2) [MIM:300215]: A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. {ECO:0000269PubMed:12379852, ECO:0000269PubMed:14722918}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 1 (EIEE1) [MIM:308350]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269PubMed:11889467, ECO:0000269PubMed:12376946}. Note=The disease is caused by mutations affecting the gene represented in this entry.Partington syndrome (PRTS) [MIM:309510]: Characterized by mental retardation, episodic dystonic hand movements, and dysarthria. {ECO:0000269PubMed:11889467}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, X-linked, ARX-related (MRXARX) [MIM:300419]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269PubMed:11971879}. Note=The disease is caused by mutations affecting the gene represented in this entry.Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004]: A X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, mental retardation and seizures. Manifestations in surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. {ECO:0000269PubMed:14722918}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult. {ECO:0000269PubMed:11889467, ECO:0000269PubMed:11971879, ECO:0000269PubMed:12359145}.

Comments

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