Gene

dmxl2

ID

ZDB-GENE-031007-6

Name

Dmx-like 2

Symbol

dmxl2 Nomenclature History

Previous Names

cb952 (1)
rabconnectin3alpha
rbc3a
rbc3alpha
rc3
si:ch211-165a16.2
si:ch211-165a16.3 (1)
stardust (1)

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Involved in neural crest cell migration; positive regulation of canonical Wnt signaling pathway; and regulation of vesicle-mediated transport. Predicted to localize to RAVE complex. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 71 and early infantile epileptic encephalopathy. Is expressed in several structures, including nervous system; neural crest; neural tube; shield; and solid lens vesicle. Orthologous to human DMXL2 (Dmx like 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb952 (11 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 12 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dmxl2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 71	Alliance	?Deafness, autosomal dominant 71	617605
developmental and epileptic encephalopathy 81	Alliance	Developmental and epileptic encephalopathy 81	618663
		?Polyendocrine-polyneuropathy syndrome	616113

Associated With dmxl2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR022033	RAVE complex protein Rav1 C-terminal
Family	IPR052208	DmX-like/RAVE complex component
Homologous_superfamily	IPR011044	Quinoprotein amine dehydrogenase, beta chain-like
Homologous_superfamily	IPR015943	WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily	IPR036322	WD40-repeat-containing domain superfamily
Repeat	IPR001680	WD40 repeat

Domain Details Per Protein

Protein	Length	DmX-like/RAVE complex component	Quinoprotein amine dehydrogenase, beta chain-like	RAVE complex protein Rav1 C-terminal	WD40 repeat	WD40-repeat-containing domain superfamily	WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:U5U756 InterPro	3050

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	dmxl2-201 (1) Ensembl	Ensembl	276 nt	Select Tool ZFIN BLAST
mRNA	dmxl2-202 (1) Ensembl	Ensembl	3,321 nt	Select Tool ZFIN BLAST
mRNA	dmxl2-204 (1) Ensembl	Ensembl	9,147 nt	Select Tool ZFIN BLAST
ncRNA	dmxl2-003 (1) Ensembl	Ensembl	754 nt	Select Tool ZFIN BLAST

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