• Gene id: 170302

Gene Summary

• Gene Symbol: ARX   Gene   UCSC   Ensembl
• Aliases: CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
• Gene name: aristaless related homeobox
• Alternate names: homeobox protein ARX, aristaless-related homeobox, X-linked, cancer/testis antigen 121,
• Gene location: Xp21.3 (25015964: 25003693)     Exons: 5     NC_000023.11
• Gene summary(Entrez): 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 protei

Protein Summary

• Protein general information: Q96QS3  
  • Name: Homeobox protein ARX (Aristaless related homeobox)
  • Length: 562  
  • Mass: 58160
  • 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
• Sequence:

  MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPF
  EAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAA
  AAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTED
  DEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPE
  DAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVW
  FQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGS
  ASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAA
  DRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • STRING: ENSP00000368332
• Other Databases: GeneCards:  ARX  Malacards:  ARX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0072148	epithelial cell fate commitment	IEA	biological process
GO:0044241	lipid digestion	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0021846	cell proliferation in forebrain	IEA	biological process
GO:0021800	cerebral cortex tangential migration	IEA	biological process
GO:0021772	olfactory bulb development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0046622	positive regulation of organ growth	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0021853	cerebral cortex GABAergic interneuron migration	IEA	biological process
GO:0021831	embryonic olfactory bulb interneuron precursor migration	IEA	biological process
GO:0021759	globus pallidus development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
X-linked mental retardation	KEGG:H00480
Lissencephaly	KEGG:H00268
West syndrome	KEGG:H01460
Proud syndrome	KEGG:H01919
Partington syndrome	KEGG:H01920
Early infantile epileptic encephalopathy	KEGG:H00606
X-linked mental retardation	KEGG:H00480
Lissencephaly	KEGG:H00268
West syndrome	KEGG:H01460
Proud syndrome	KEGG:H01919
Partington syndrome	KEGG:H01920
Lissencephaly	PMID:12379852
Early infantile epileptic encephalopathy 1	PMID:17664401
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Abnormal genitalia	MIK: 12874405

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
12874405	Abnormal genitalia				Male infertility