ARX - aristaless related homeobox Gene

Also Known as ISSX; PRTS; CT121; EIEE1; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 170302

About ARX

Cytogenetic location: Xp21.3 Genomic coordinates (GRCh38): X:25,003,694-25,015,965 (from NCBI)

This gene has 5 transcripts (splice variants), 209 orthologues, 50 paralogues and is associated with 15 phenotypes. Biased expression in ovary (RPKM 16.9), brain (RPKM 2.3) and 2 other tissues.

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. Expansion of a polyalanine tract and Other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]

ARX Products (1)

mRNA	Protein	Name
NM_139058.3	NP_620689.1	homeobox protein ARX

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	31691806	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	16301625	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	22194193	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22194193	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21653829	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22194193	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	31691806	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	31691806	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	22194193	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARX Protein Structure

Homeobox

OAR

0
100
200
300
400
500
562 a.a.

Protein Preferred Names	Protein Names
homeobox protein ARX	aristaless-related homeobox, X-linked

Related Diseases

Diseases	Alias
Lissencephaly, X-Linked, 2	X-Linked Lissencephaly With Abnormal Genitalia Hydranencephaly With Abnormal Genitalia Xlag Xlisg X-Linked Lissencephaly With Ambiguous Genitalia LISX2 Lissencephaly, X-Linked 2 X-Linked Lissencephaly 2 X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly, X-Linked, With Ambiguous Genitalia Xlis2 X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly X-Linked With Ambiguous Genitalia Lissencephaly, X-Linked, Type 2 Chromosome Xq26.3 Duplication Syndrome
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Intellectual Developmental Disorder, X-Linked 29	XLID29 Mental Retardation, X-Linked 29 Mrx29 Mrx32 Mrx33 Mrx38 Mrx43 Mrx52 Mrx54 Mrx76 Mrx87 Mental Retardation, X-Linked 32 Mental Retardation, X-Linked 33 Mental Retardation, X-Linked 38 Mental Retardation, X-Linked 43 Mental Retardation, X-Linked 76 Mental Retardation, X-Linked 87
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Hydrocephalus, Congenital, 1	Hydrocephaly Ventriculomegaly Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 HYC1 Congenital Non-Communicating Hydrocephalus Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly Congenital Obstructive Hydrocephalus Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 Hydrocephalus
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Arachnoid Cysts, Intracranial	Arachnoid Cyst Arachnoid Cysts Intracranial Arachnoid Cysts Arachnoid Brain Cyst Arachnoid Cerebral Cyst Intracranium Cyst Nos
Corpus Callosum, Agenesis Of	Corpus Callosum Agenesis Agenesis Of The Corpus Callosum Isolated Corpus Callosum Agenesis Acc Non Rare In Europe: Isolated Corpus Callosum Agenesis Congenital Malformation Of Corpus Callosum Deformity Of Corpus Callosum Absence Of Corpus Callosum Absent Corpus Callosum Acc - [Agenesis Of Corpus Callosum] Aplasia Of Corpus Callosum Congenital Absence Of Corpus Callosum Hypoplastic Corpus Callosum Hypoplasia Of Corpus Callosum
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Lissencephaly, X-Linked, 1	Lissencephaly Type 1 Due To Doublecortin Gene Mutation Xlis Lissencephaly, X-Linked LISX1 Lissencephaly And Agenesis Of Corpus Callosum Subcortical Laminal Heterotopia, X-Linked X-Linked Lissencephaly 1 X-Linked Lissencephaly Double Cortex Xlis1 Lissencephaly X-Linked Lisx X-Linked Lissencephaly Type 1 Lissencephaly, X-Linked 1 Subcortical Band Heterotopia X-Linked SBHX Sclh Subcortical Laminar Heterotopia Lissencephaly, X-Linked, Type 1 Subcortical Band Heterotopia
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	Da Silva Syndrome Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Non-Syndromic X-Linked Intellectual Disability Arx-Related	Arx-Related Intellectual Disability Mrxarx X-Linked Mental Retardation 29 X-Linked Mental Retardation 29 And Others X-Linked Mental Retardation 32 X-Linked Mental Retardation 33 X-Linked Mental Retardation 38 X-Linked Mental Retardation 43 X-Linked Mental Retardation 76 X-Linked Mental Retardation 87 X-Linked Mental Retardation With Or Without Seizures Arx-Related Mental Retardation, X-Linked, Type 29 And Others
Syndromic Intellectual Disability
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Developmental And Epileptic Encephalopathy 17	DEE17 Epileptic Encephalopathy, Early Infantile, 17 Eiee17 Developmental And Epileptic Encephalopathy, 17 Early Infantile Epileptic Encephalopathy 17 Developmental And Epileptic Encephalopathy, Type 17
Non-Syndromic X-Linked Intellectual Disability 93	Mrx93 X-Linked Mental Retardation With Macrocephaly
Developmental And Epileptic Encephalopathy 8	DEE8 Epileptic Encephalopathy, Early Infantile, 8 Eiee8 Hyperekplexia And Epilepsy Developmental And Epileptic Encephalopathy, 8 Early Infantile Epileptic Encephalopathy 8 Hyperekplexia-Epilepsy Syndrome Hyperekplexia With Epilepsy Startle Disease With Epilepsy Encephalopathy, Epileptic, Early Infantile, Type 8
Spasticity
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2
Verbal Auditory Agnosia
Infancy Electroclinical Syndrome
Aicardi Syndrome	AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Agenesis Of Corpus Callosum With Chorioretinal Abnormality Aicardi'S Syndrome Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities Callosal Agenesis And Ocular Abnormalities Chorioretinal Anomalies With Acc
Cerebellar Hypoplasia
Hydranencephaly	Hydroanencephaly
Holoprosencephaly 5	HPE5 Holoprosencephaly-5 Holoprosencephaly, Type 5
Neonatal Period Electroclinical Syndrome
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Intellectual Developmental Disorder, X-Linked 109	Fraxe Syndrome Fragile Xe Syndrome Mental Retardation, X-Linked, Fraxe Type XLID109 Mrx109 Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Fraxe Mental Retardation Syndrome X-Linked Intellectual Developmental Disorder 109 Fraxe Intellectual Disability Fraxe Mental Retardation, X-Linked 109 Fragile Site On Chromosome Xq28 Fragile Site, Folic Acid Type X-Linked Intellectual Disability Associated With Fragile Site Fraxe Fraxe Intellectual Deficit Intellectual Disability Associated With Fragile Site Fraxe
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-132987	Avibactam tomilopil	Inhibitor	98.57%	Phase 1

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P990697	Anvatabart	Inhibitor	98.15%	Phase 3

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01051	ARX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15320	UBA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19646	Uba2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991204	Anti-PSMA Antibody	Inhibitor	98.91%	Unkown
HY-P991930	ARX305 Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ARX	MGD	MGI:1097716
Rattus norvegicus	ARX	RGD	RGD:1562672
Bos taurus	ARX	VGNC	VGNC:106643
Canis familiaris	ARX	VGNC	VGNC:38151
Others	ARX	NCBI