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 regulatory region sequence-specific DNA binding activity. Involved in forebrain development; neuron development; and pancreatic A cell development. Predicted to localize to nucleus. 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. Is expressed in several structures, including endocrine system; floor plate; forebrain; forebrain neural keel; and neural plate. Orthologous to human ARX (aristaless related homeobox).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 52 figures from 28 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu265 (22 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
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 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
epilepsy | arxas3005/s3005 | standard conditions | Griffin et al., 2021 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Paired Homeobox Transcription Factors |
---|---|---|---|---|---|---|
UniProtKB:B3DKI9
|
453 | |||||
UniProtKB:O42115
|
453 |
Interactions and Pathways
No data available
Plasmids
No data available