ARX aristaless related homeobox [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARXprovided by HGNC
Official Full Name: aristaless related homeoboxprovided by HGNC
Primary source: HGNC:HGNC:18060
See related: Ensembl:ENSG00000004848 MIM:300382; AllianceGenome:HGNC:18060
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ISSX; PRTS; CT121; EIEE1; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1
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]
Expression: Biased expression in ovary (RPKM 16.9), brain (RPKM 2.3) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp21.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (25003694..25015965, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (24587932..24600202, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (25021811..25034082, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Title: Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Predicting recurrence in pancreatic neuroendocrine tumours: role of ARX and alternative lengthening of telomeres (ALT).
Title: Predicting recurrence in pancreatic neuroendocrine tumours: role of ARX and alternative lengthening of telomeres (ALT).
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
Title: Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Title: Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects.
Title: Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects.
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Title: Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.
Title: Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.
Generation of a homozygous ARX nuclear CFP (ARX(nCFP/nCFP)) reporter human iPSC line (HMGUi001-A-4).
Title: Generation of a homozygous ARX nuclear CFP (ARX(nCFP/nCFP)) reporter human iPSC line (HMGUi001-A-4).
Alternative Lengthening of Telomeres and Differential Expression of Endocrine Transcription Factors Distinguish Metastatic and Non-metastatic Insulinomas.
Title: Alternative Lengthening of Telomeres and Differential Expression of Endocrine Transcription Factors Distinguish Metastatic and Non-metastatic Insulinomas.
Assessment of ARX expression, a novel biomarker for metastatic risk in pancreatic neuroendocrine tumors, in endoscopic ultrasound fine-needle aspiration.
Title: Assessment of ARX expression, a novel biomarker for metastatic risk in pancreatic neuroendocrine tumors, in endoscopic ultrasound fine-needle aspiration.

Submit: New GeneRIF Correction See all GeneRIFs (84)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Corpus callosum agenesis-abnormal genitalia syndrome MedGen: C0796124 OMIM: 300004 GeneReviews: Not available	Compare labs
Developmental and epileptic encephalopathy, 1 MedGen: C3463992 OMIM: 308350 GeneReviews: Not available	Compare labs
Intellectual disability, X-linked, with or without seizures, arx-related MedGen: C0796244 OMIM: 300419 GeneReviews: Not available	Compare labs
Partington syndrome MedGen: C0796250 OMIM: 309510 GeneReviews: Not available	Compare labs
X-linked lissencephaly with abnormal genitalia MedGen: C1846171 OMIM: 300215 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-12-05) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-05) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH128932 (e-PCR)
- UniSTS:212240

NoName (e-PCR)
- UniSTS:532310

Arx (e-PCR), detects polymorphism
- UniSTS:532310

DXS1202 (e-PCR), detects polymorphism
- UniSTS:31334

DXS989 (e-PCR), detects polymorphism
- UniSTS:11372

Arx (e-PCR), detects polymorphism
- UniSTS:506739

DXS1432 (e-PCR)
- UniSTS:98997

RH18271 (e-PCR)
- UniSTS:17854

DXS1218 (e-PCR), detects polymorphism
- UniSTS:88010

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in cell proliferation in forebrain	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex GABAergic interneuron migration	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex tangential migration	IEA Inferred from Electronic Annotation more info
involved_in embryonic olfactory bulb interneuron precursor migration	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in globus pallidus development	IEA Inferred from Electronic Annotation more info
involved_in lipid digestion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in organ growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of organ growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: homeobox protein ARX

Names: aristaless-related homeobox, X-linked; cancer/testis antigen 121

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.