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 have sequence-specific DNA binding activity. Predicted to be involved in multicellular organism development and regulation of transcription, DNA-templated. 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. Orthologous to human ARX (aristaless related homeobox).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With arxb 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 arxb 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:A0A0G2KXF6 InterPro

Transcripts

Genome Browsers: No data available

No data available

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