Gene
arxb
- ID
- ZDB-GENE-121109-2
- Name
- aristaless related homeobox b
- Symbol
- arxb Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 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. Predicted to be involved in neuron development and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in X-linked lissencephaly 2; X-linked recessive disease (multiple); corpus callosum agenesis-abnormal genitalia syndrome; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ARX (aristaless related homeobox).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Paired Homeobox Transcription Factors |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A0G2KXF6 | InterPro |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available