InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DIAPH2

Summary

InnateDB Protein

IDBP-78969.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DIAPH2

Protein Name

diaphanous homolog 2 (Drosophila)

Synonyms

DIA; DIA2; DRF2; POF; POF2;

Species

Homo sapiens

Ensembl Protein

ENSP00000362140

InnateDB Gene

IDBG-78961 (DIAPH2)

Protein Structure

UniProt Annotation

Function

Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton. {ECO:0000269PubMed:12577064}.

Subcellular Localization

Isoform 3: Cytoplasm, cytosol. Early endosome. Note=Isoform 3 is cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes.

Disease Associations

Premature ovarian failure 2A (POF2A) [MIM:300511]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269PubMed:9497258}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005102	receptor binding
GO:0005488	binding
GO:0017048	Rho GTPase binding

Biological Process

GO:0000910	cytokinesis
GO:0007275	multicellular organismal development
GO:0007292	female gamete generation
GO:0016043	cellular component organization
GO:0030036	actin cytoskeleton organization
GO:0048477	oogenesis

Cellular Component

GO:0005769	early endosome
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR010465 DRF autoregulatory
IPR010472 Formin, FH3 domain
IPR010473 Formin, GTPase-binding domain
IPR015425 Formin, FH2 domain
IPR016024 Armadillo-type fold

PFAM

PF06345
PF06367
PF06371
PF02181

PRINTS

PIRSF

SMART

SM00498

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O60879