DIAPH3 (diaphanous related formin 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 81624
Gene name Diaphanous related formin 3
Gene symbol DIAPH3
Synonyms (NCBI Gene)
ANAUNA1DIA2DRF3NSDANdiap3mDia2
Chromosome 13
Chromosome location 13q21.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
19
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
miRTarBase ID miRNA Experiments Reference
MIRT020756 hsa-miR-155-5p Proteomics 18668040
MIRT935975 hsa-miR-4330 CLIP-seq
MIRT935976 hsa-miR-4643 CLIP-seq
MIRT935977 hsa-miR-4701-5p CLIP-seq
MIRT935978 hsa-miR-4717-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (51)
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0000813 Component ESCRT I complex IEA
GO:0000922 Component Spindle pole IEA
GO:0001701 Process In utero embryonic development IEA
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614567 15480 ENSG00000139734
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NSV4
Protein name Protein diaphanous homolog 3 (Diaphanous-related formin-3) (DRF3) (MDia2)
Protein function Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds t
PDB 5UWP , 6X2Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06371 Drf_GBD 113 → 297 Diaphanous GTPase-binding Domain Family
PF06367 Drf_FH3 302 → 492 Diaphanous FH3 Domain Family
PF02181 FH2 636 → 1009 Formin Homology 2 Domain Family
PF06345 Drf_DAD 1060 → 1074 DRF Autoregulatory Domain Motif
Sequence 
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKF
HLNIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSEN
ELLELFEKMMEDMNLNEDKKAPLREKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFI
HELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVK
KNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGE
ESILEEVLEALTSAGEEKKIDRFFCIVEGLRHNSVQLQVACMQLINALVTSPDDLDFRLH
IRNEFMRCGLKEILPNLKCIKNDGLDIQLKVFDEHKEEDLFELSHRLEDIRAELDEAYDV
YNMVWSTVKETRAEGYFISILQHLLLIRNDYFIRQQYFKLIDECVSQIVLHRDGMDPDFT
YRKRLDLDLTQFVDICIDQAKLEEFEEKASELYKKFEKEFTDHQETQAELQKKEAKINEL
QAELQAFKSQFGALPADCNIPLPPSKEGGTGHSALPPPPPLPSGGGVPPPPPPPPPPPLP
GMRMPFSGPVPPPPPLGFLGGQNSPPLPILPFGLKPKKEFKPEISMRRLNWLKIRPHEMT
ENCFWIKVNENKYENVDLLCKLENTFCCQQKERREEEDIEEKKSIKKKIKELKFLDSKIA
QNLSIFLSSFRVPYEEIRMMILEVDETRLAESMIQNLIKHLPDQEQLNSLSQFKSEYSNL
CEPEQFVVVMSNVKRLRPRLSAILFKLQFEEQVNNIKPDIMAVSTACEEIKKSKSFSKLL
ELVLLMGNYMNAGSRNAQTFGFNLSSLCKLKDTKSADQKTTLLHFLVEICEEKYPDILNF
VDDLEPLDKASKVSVETLEKNLRQMGRQLQQLEKELETFPPPEDLHDKFVTKMSRFVISA
KEQYETLSKLHENMEKLYQSIIGYYAIDVKKVSVEDFLTDLNNFRTTFMQAIKENIKKRE
AEEKEKRVRIAKELAERERLERQQKKKRLLEMKTEGDETGVMDNLLEALQSGAAFRDRRK
RTPMPKDVRQSLSPMSQRPVLKVCNHENQKVQLTEGSRSHYNINCNSTRTPVAKELNYNL
DTHTSTGRIKAAEKKEACNVESNRKKETELLGSFSKNESVPEVEALLARLRAL
Sequence length 1193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Regulation of actin cytoskeleton
Cytoskeleton in muscle cells 		  RHO GTPases Activate Formins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
62
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant auditory neuropathy 1 Pathogenic rs2050261564 RCV001264612
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs36084898 RCV005900065
Auditory neuropathy Uncertain significance rs145827856 RCV005361683
Cervical cancer Uncertain significance rs534979056 RCV005923940
Clear cell carcinoma of kidney Uncertain significance rs534979056 RCV005923941
Show/Hide Text Mining Associations (22)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35238419
Apraxias Associate 22738016
Autistic Disorder Associate 22738016
Breast Neoplasms Associate 26179371
Carcinoma Ovarian Epithelial Associate 24587343
Carcinoma Pancreatic Ductal Associate 33297976
Carcinoma Renal Cell Associate 39376176
Colorectal Neoplasms Associate 34308980, 34911835
Colorectal Neoplasms Inhibit 35538918
Epilepsy Rolandic Associate 22738016