Gene

diaph2

ID

ZDB-GENE-090115-1

Name

diaphanous-related formin 2

Symbol

diaph2 Nomenclature History

Previous Names

zdia2 (1)
diaphanous 2 (1)
sb:eu1025 (1)
si:dkeyp-11a1.1

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Description

Predicted to enable actin binding activity. Acts upstream of or within cytoskeleton organization; gastrulation; and regulation of small GTPase mediated signal transduction. Predicted to be active in actin filament. Is expressed in head. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and primary ovarian insufficiency 2A. Orthologous to human DIAPH2 (diaphanous related formin 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu1025 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 10 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With diaph2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
primary ovarian insufficiency 2A	Alliance	?Premature ovarian failure 2A	300511

Associated With diaph2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR010472	Formin, FH3 domain
Domain	IPR010473	Formin, GTPase-binding domain
Domain	IPR014767	Diaphanous autoregulatory (DAD) domain
Domain	IPR014768	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain
Domain	IPR015425	Formin, FH2 domain
Family	IPR051412	Formin Homology Diaphanous subfamily
Homologous_superfamily	IPR011989	Armadillo-like helical
Homologous_superfamily	IPR016024	Armadillo-type fold
Homologous_superfamily	IPR042201	Formin, FH2 domain superfamily
Homologous_superfamily	IPR044933	Diaphanous, GTPase-binding domain superfamily

Domain Details Per Protein

Protein	Length	Armadillo-like helical	Armadillo-type fold	Diaphanous autoregulatory (DAD) domain	Diaphanous, GTPase-binding domain superfamily	Formin, FH2 domain	Formin, FH2 domain superfamily	Formin, FH3 domain	Formin, GTPase-binding domain	Formin Homology Diaphanous subfamily	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain
UniProtKB:A0A8M9QL38 InterPro	1118
UniProtKB:A0A8M9QGW2 InterPro	1145
UniProtKB:A0A8M9QPK7 InterPro	1135
UniProtKB:A0A8M9PZW8 InterPro	1166
UniProtKB:A0A8M9QBN3 InterPro	1155
UniProtKB:A0A8M9PNG4 InterPro	205

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	diaph2-201 (1) Ensembl	Ensembl		2,912 nt	Select Tool ZFIN BLAST
mRNA	diaph2-202 (1) Ensembl	Ensembl		7,546 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