DIAPH3 (diaphanous related formin 3)

Gene

• Entrez ID: 81624
• Gene name: Diaphanous related formin 3
• Gene symbol: DIAPH3
• Synonyms: AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
• 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

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
MIRT935979	hsa-miR-588	CLIP-seq
MIRT935980	hsa-miR-624	CLIP-seq
MIRT935981	hsa-miR-759	CLIP-seq
MIRT1977012	hsa-miR-142-5p	CLIP-seq
MIRT1977013	hsa-miR-224	CLIP-seq
MIRT1977014	hsa-miR-340	CLIP-seq
MIRT1977015	hsa-miR-4422	CLIP-seq
MIRT935976	hsa-miR-4643	CLIP-seq
MIRT935978	hsa-miR-4717-3p	CLIP-seq
MIRT2212449	hsa-miR-4263	CLIP-seq
MIRT2212450	hsa-miR-4509	CLIP-seq
MIRT2212451	hsa-miR-4744	CLIP-seq
MIRT2212452	hsa-miR-576-5p	CLIP-seq
MIRT1977015	hsa-miR-4422	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030041	Process	Actin filament polymerization	ISS
GO:0045296	Function	Cadherin binding	HDA	25468996

Other IDs

• MIM: 614567
• HGNC: 15480
• e!Ensembl: ENSG00000139734

Protein

• 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

Pathways

KEGG:

Regulation of actin cytoskeleton
Cytoskeleton in muscle cells

Reactome:

RHO GTPases Activate Formins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Auditory neuropathy	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, Auditory neuropathy, Auditory neuropathy spectrum disorder	rs80356605, rs80356602, rs121908598, rs80356596, rs80356586, rs80356587, rs199766465, rs397515605, rs397515608, rs886039470, rs1131690806, rs201326023	27658576, 20624953, 23441200, 23441200, 20624953
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959

Unknown
Disease name	Disease term	dbSNP ID	References
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	22319020
Non-syndromic sensorineural deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA