The ARX gene homepage

General information
Gene symbol ARX
Gene name aristaless related homeobox
Chromosome X
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_008281.1
Transcript reference NM_139058.2
Exon/intron information NM_139058.2 exon/intron table
Associated with diseases EIEE1, ID, LISX2, MRX, MRXARX, PRTS, Proud syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Cheryl Shoubridge
Total number of public variants reported 104
Unique public DNA variants reported 82
Individuals with public variants 106
Hidden variants 19
Date created September 13, 2012
Date last updated May 09, 2022
Version ARX:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_139058.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 18060
Entrez Gene 170302
PubMed articles ARX
OMIM - Gene 300382
OMIM - Diseases EIEE1 (encephalopathy, epileptic, early infantile, type 1 (EIEE-1))
MRXARX (mental retardation, X-linked, type 29 and others (MRX29))
PRTS (mental retardation, Partington syndrome (PRTS))
Proud syndrome
GeneCards ARX
GeneTests ARX
Orphanet ARX

Active transcripts




NCBI ID     

NCBI Protein ID     

00000729 X aristaless related homeobox NM_139058.2 NP_620689.1 104

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