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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 enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within forebrain development; neuron development; and pancreatic A cell development. Predicted to be located in nucleus. 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 X-linked lissencephaly 2; corpus callosum agenesis-abnormal genitalia syndrome; developmental and epileptic encephalopathy 1; and intellectual disability (multiple). Orthologous to human ARX (aristaless related homeobox).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
46 figures from 23 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
developmental and epileptic encephalopathy 1 Alliance Developmental and epileptic encephalopathy 1 308350
non-syndromic X-linked intellectual disability ARX-related Alliance Intellectual developmental disorder, X-linked 29 300419
Partington syndrome Alliance Partington syndrome 309510
X-linked lissencephaly 2 Alliance Hydranencephaly with abnormal genitalia 300215
X-linked lissencephaly 2 Alliance Lissencephaly, X-linked 2 300215
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:O42115 453
UniProtKB:B3DKI9 453
UniProtKB:A4FVH8 382
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations