Gene

arxa

ID
ZDB-GENE-990415-15
Name
aristaless related homeobox a
Symbol
arxa Nomenclature History
Previous Names
  • arx
  • etID309855.24 (1)
  • phox2a
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in forebrain development; neuron development; and pancreatic A cell development. Predicted to localize to nuclear chromatin. Is expressed in several structures, including endocrine system; floor plate; forebrain; forebrain neural keel; and neural plate. Human ortholog(s) of this gene implicated in Partington syndrome; early infantile epileptic encephalopathy 1; lissencephaly; non-syndromic X-linked intellectual disability; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ARX (aristaless related homeobox).
Genome Resources
Note
None
Expression
All Expression Data
46 figures from 23 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With arxa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
corpus callosum agenesis-abnormal genitalia syndrome Alliance Proud syndrome 300004
early infantile epileptic encephalopathy 1 Alliance Epileptic encephalopathy, early infantile, 1 308350
lissencephaly Alliance Hydranencephaly with abnormal genitalia 300215
lissencephaly Alliance Lissencephaly, X-linked 2 300215
non-syndromic X-linked intellectual disability ARX-related Alliance Mental retardation, X-linked 29 and others 300419
Partington syndrome Alliance Partington syndrome 309510
Associated With arxa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeobox domain
Domain IPR003654 OAR domain
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Domain Details Per Protein
Protein Length Homeobox, conserved site Homeobox domain Homeobox-like domain superfamily OAR domain
UniProtKB:A4FVH8 382
UniProtKB:O42115 453
UniProtKB:B3DKI9 453
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations