• Gene id: 81624

Gene Summary

• Gene Symbol: DIAPH3   Gene   UCSC   Ensembl
• Aliases: AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
• Gene name: diaphanous related formin 3
• Alternate names: protein diaphanous homolog 3, diaphanous homolog 3,
• Gene location: 13q21.2 (60163984: 59665582)     Exons: 38     NC_000013.11
• Gene summary(Entrez): This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy
• OMIM: 600947

Protein Summary

• Protein general information: Q9NSV4  
  • Name: Protein diaphanous homolog 3 (Diaphanous related formin 3) (DRF3) (MDia2)
  • Length: 1193  
  • Mass: 136926
• Sequence:

  MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKFHLNIRTLTDDMLDKF
  ASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSI
  KKEMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDI
  LEKLISGKIQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGE
  ESILEEVLEALTSAGEEKKIDRFFCIVEGLRHNSVQLQVACMQLINALVTSPDDLDFRLHIRNEFMRCGLKEILP
  NLKCIKNDGLDIQLKVFDEHKEEDLFELSHRLEDIRAELDEAYDVYNMVWSTVKETRAEGYFISILQHLLLIRND
  YFIRQQYFKLIDECVSQIVLHRDGMDPDFTYRKRLDLDLTQFVDICIDQAKLEEFEEKASELYKKFEKEFTDHQE
  TQAELQKKEAKINELQAELQAFKSQFGALPADCNIPLPPSKEGGTGHSALPPPPPLPSGGGVPPPPPPPPPPPLP
  GMRMPFSGPVPPPPPLGFLGGQNSPPLPILPFGLKPKKEFKPEISMRRLNWLKIRPHEMTENCFWIKVNENKYEN
  VDLLCKLENTFCCQQKERREEEDIEEKKSIKKKIKELKFLDSKIAQNLSIFLSSFRVPYEEIRMMILEVDETRLA
  ESMIQNLIKHLPDQEQLNSLSQFKSEYSNLCEPEQFVVVMSNVKRLRPRLSAILFKLQFEEQVNNIKPDIMAVST
  ACEEIKKSKSFSKLLELVLLMGNYMNAGSRNAQTFGFNLSSLCKLKDTKSADQKTTLLHFLVEICEEKYPDILNF
  VDDLEPLDKASKVSVETLEKNLRQMGRQLQQLEKELETFPPPEDLHDKFVTKMSRFVISAKEQYETLSKLHENME
  KLYQSIIGYYAIDVKKVSVEDFLTDLNNFRTTFMQAIKENIKKREAEEKEKRVRIAKELAERERLERQQKKKRLL
  EMKTEGDETGVMDNLLEALQSGAAFRDRRKRTPMPKDVRQSLSPMSQRPVLKVCNHENQKVQLTEGSRSHYNINC
  NSTRTPVAKELNYNLDTHTSTGRIKAAEKKEACNVESNRKKETELLGSFSKNESVPEVEALLARLRAL

• Structural information:
  • Protein Domains: (114..47-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (561..63-)
    (/note="FH1-)
    (636..103-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (1057..108-)
    (/note="DAD-)
    (/evidence="ECO:000025-)
  • Interpro: IPR011989  IPR016024  IPR014767  IPR010465  IPR015425   IPR042201  IPR010472  IPR027654  IPR014768  IPR010473  
  • Prosite: PS51231 PS51444 PS51232
  • PDB: 5UWP
  • PDBsum: 5UWP
  • STRING: ENSP00000383178
• Other Databases: GeneCards:  DIAPH3  Malacards:  DIAPH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030041	actin filament polymerization	ISS	biological process
GO:0007010	cytoskeleton organization	ISS	biological process
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0016043	cellular component organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030041	actin filament polymerization	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton

Diseases

Associated diseases	References
Auditory neuropathy	KEGG:H02339
Auditory neuropathy	KEGG:H02339
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R