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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable actin binding activity and small GTPase 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 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	Additional Resources	Length
UniProtKB:A0A8M9QL38	InterPro	1118
UniProtKB:A0A8M9QGW2	InterPro	1145
UniProtKB:A0A8M9QPK7	InterPro	1135
UniProtKB:A0A8M9PZW8	InterPro	1166
UniProtKB:A0A8M9QBN3	InterPro	1155
UniProtKB:A0A8M9PNG4	InterPro	205
UniProtKB:A0AB32T0X3	InterPro	1134
UniProtKB:A0AB32T0X4	InterPro	1042
UniProtKB:A0AB32T3N4	InterPro	934
UniProtKB:A0AB32T7W0	InterPro	1148
UniProtKB:A0AC58H8A2	InterPro	1159
UniProtKB:A0AC58H8A6	InterPro	1159
UniProtKB:A0AC58H8A7	InterPro	1148
UniProtKB:A0AC58H8B3	InterPro	1145
UniProtKB:A0AC58H8B4	InterPro	1117
UniProtKB:A0AC58H8B5	InterPro	1124
UniProtKB:A0AC58H8B6	InterPro	1124
UniProtKB:A0AC58H8B7	InterPro	1155
UniProtKB:A0AC58H8B8	InterPro	1127
UniProtKB:A0AC58H8B9	InterPro	1114
UniProtKB:A0AC58H8C0	InterPro	1135
UniProtKB:A0AC58H8C1	InterPro	1127
UniProtKB:A0AC58H8C2	InterPro	1107
UniProtKB:A0AC58H8C4	InterPro	1118
UniProtKB:A0AC58H8C6	InterPro	1134
UniProtKB:A0AC58H8C7	InterPro	1107
UniProtKB:A0AC58H8C8	InterPro	1114
UniProtKB:A0AC58H8C9	InterPro	1090
UniProtKB:A0AC58H8D0	InterPro	1128
UniProtKB:A0AC58H8D1	InterPro	1086
UniProtKB:A0AC58H8D2	InterPro	1090
UniProtKB:A0AC58H8D3	InterPro	1096
UniProtKB:A0AC58H8D4	InterPro	1079
UniProtKB:A0AC58H8D5	InterPro	1096
UniProtKB:A0AC58H8D6	InterPro	1103
UniProtKB:A0AC58H8D7	InterPro	1079
UniProtKB:A0AC58H8D8	InterPro	1138
UniProtKB:A0AC58H8D9	InterPro	1138
UniProtKB:A0AC58H8E0	InterPro	1086
UniProtKB:A0AC58H8E1	InterPro	721
UniProtKB:A0AC58H8E2	InterPro	721
UniProtKB:A0AC58H8E3	InterPro	1097
UniProtKB:A0AC58H8E4	InterPro	1097
UniProtKB:A0AC58H8F0	InterPro	685
UniProtKB:A0AC58H8F1	InterPro	1107
UniProtKB:A0AC58H8F5	InterPro	1103
UniProtKB:A0AC58H8F8	InterPro	678
UniProtKB:A0AC58H8H1	InterPro	685
UniProtKB:A0AC58H8H8	InterPro	714