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

Genome Assembly

GRCz12tu

Annotation Status

Current

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. Used to study epilepsy. 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

Expression

All Expression Data

52 figures from 28 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu265 (22 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from 4 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

Human Disease	Fish	Conditions	Citations
epilepsy	arxa^s3005/s3005	standard conditions	Griffin et al., 2021

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017970	Homeobox, conserved site
Domain	IPR001356	Homeodomain
Domain	IPR003654	OAR domain
Family	IPR050649	Paired Homeobox Transcription Factors
Homologous_superfamily	IPR009057	Homedomain-like superfamily