Gene

diaph3

ID

ZDB-GENE-040801-144

Name

diaphanous-related formin 3

Symbol

diaph3 Nomenclature History

Previous Names

zgc:100947 (1)

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in autosomal dominant auditory neuropathy 1. Orthologous to human DIAPH3 (diaphanous related formin 3).

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

Daniocell

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 diaph3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant auditory neuropathy 1	Alliance	Auditory neuropathy, autosomal dominant 1	609129

Associated With diaph3 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR010473	Formin, GTPase-binding domain
Domain	IPR014768	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain
Family	IPR051412	Formin Homology Diaphanous subfamily
Homologous_superfamily	IPR011989	Armadillo-like helical
Homologous_superfamily	IPR016024	Armadillo-type fold
Homologous_superfamily	IPR044933	Diaphanous, GTPase-binding domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length	Armadillo-like helical	Armadillo-type fold	Diaphanous, GTPase-binding domain superfamily	Formin, GTPase-binding domain	Formin Homology Diaphanous subfamily	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain
UniProtKB:Q6DBX8	InterPro	267

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	diaph3-201 (1) Ensembl	Ensembl	1,419 nt	Select Tool ZFIN BLAST
mRNA	diaph3-202 (1) Ensembl	Ensembl	4,345 nt	Select Tool ZFIN BLAST
mRNA	diaph3-203 (1) Ensembl	Ensembl	750 nt	Select Tool ZFIN BLAST
mRNA	diaph3-204 (1) Ensembl	Ensembl	2,085 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