DIAPH3 (diaphanous related formin 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81624
Gene name Gene Name - the full gene name approved by the HGNC.
Diaphanous related formin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DIAPH3
Synonyms (NCBI Gene) Gene synonyms aliases
AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614567 15480 ENSG00000139734
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Auditory Neuropathy autosomal dominant auditory neuropathy 1, auditory neuropathy N/A N/A GenCC
Biliary Atresia Biliary atresia N/A N/A GWAS
Deafness autosomal dominant nonsyndromic hearing loss N/A N/A GenCC
Dementia Dementia N/A N/A GWAS
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease 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