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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DIAPH3 Gene

protein-coding GIFtS: 59
GCID: GC13M060239

diaphanous homolog 3 (Drosophila)

(Previous names: diaphanous (Drosophila, homolog) 3, auditory neuropathy,...)
(Previous symbol: AUNA1)

Explore 5 diseases affiliated with
DIAPH3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Diaphanous Homolog 3 (Drosophila)¹ ²		Diaphanous (Drosophila, Homolog) 3¹
DRF3¹ ² ³		DIA2²
AN¹ ²		Diap3¹
AUNA1¹ ²		MDia2³
NSDAN¹ ²		Protein Diaphanous Homolog 3²
Diaphanous-Related Formin-3² ³		DIAP3³
FLJ34705¹		MDia2³
Auditory Neuropathy, Autosomal Dominant 1¹

External Ids:	HGNC: 15480¹	Entrez Gene: 81624²	Ensembl: ENSG00000139734⁷	OMIM: 614567⁵	UniProtKB: Q9NSV4³

Export aliases for DIAPH3 gene to outside databases

Previous GC identifers: GC13M058315 GC13M054343 GC13M059179 GC13M058146 GC13M059246 GC13M040931

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DIAPH3:

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 1. Multiple transcript variants encoding different isoforms have been found for this

gene. (provided by RefSeq, Apr 2012)

UniProtKB/Swiss-Prot: DIAP3_HUMAN, Q9NSV4

Function: Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the

membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and

transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during

signaling and the regulation of actin dynamics (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DIAPH3 gene promoter:
Nkx3-1 Nkx3-1 v4 POU3F1 Nkx3-1 v1 Nkx2-5 Nkx3-1 v2 FAC1 POU2F1 POU2F1a Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DIAPH3 promoter sequence

Search SABiosciences Chromatin IP Primers for DIAPH3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIAPH3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q21.2 Ensembl cytogenetic band: 13q21.2 HGNC cytogenetic band: 13q21.2

DIAPH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIAPH3 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M060239: view genomic region (about GC identifiers)

Start:	60,239,717 bp from pter	End:	60,738,119 bp from pter
Size:	498,403 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DIAP3_HUMAN, Q9NSV4 (See protein sequence)

Recommended Name: Protein diaphanous homolog 3

Size: 1193 amino acids; 136926 Da

Subcellular location: Cytoplasm, cytosol. Note=During mitosis, co-localizes with the actin-rich cleavage furrow and

with the microtubule-rich central spindle during cytokinesis

Developmental stage: Increased expression in S phase and mitotic cells; levels decrease as cells enter in G0/G1 phase

due to proteasomal degradation (at protein level)

Sequence caution: Sequence=AAW73254.1; Type=Frameshift; Positions=1147;

Secondary accessions: A2A3B8 A2A3B9 A2A3C0 Q18P99 Q18PA0 Q18PA1 Q2KPB6 Q3ZK23 Q5JTP8 Q5T2S7 Q5XKF6

Q6MZF0 Q6NUP0 Q86VS4 Q8NAV4

Alternative splicing: 7 isoforms: Q9NSV4-3 Q9NSV4-1 Q9NSV4-2 Q9NSV4-4 Q9NSV4-5 Q9NSV4-6 Q9NSV4-7

Explore the universe of human proteins at neXtProt for DIAPH3: NX_Q9NSV4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NSV4

DIAPH3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_001035982.1 NP_001245295.1 NP_001245296.1 NP_001245297.1 NP_001245298.1 NP_001245299.1 NP_112194.2

ENSEMBL proteins:

ENSP00000383178 ENSP00000367141 ENSP00000383173 ENSP00000383174 ENSP00000267215

ENSP00000383184

Human Recombinant Protein Products:

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	Novus Biologicals DIAPH3 Proteins Novus Biologicals DIAPH3 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DIAPH3

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	IEA	--

DIAPH3 for ontologies About GeneDecksing

DIAPH3 Antibody Products:

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	Uscn Antibodies for DIAPH3
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Assay Products for DIAPH3:

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	Uscn ELISAs and CLIAs for DIAPH3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DIAPH3 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR014767 Diaphanous_autoregulatory

IPR010473 Drf_GTPase-bd

IPR010472 Drf_FH3

IPR003104 Actin-bd_FH2/DRF_autoreg

IPR014768 GTPase-bd/formin_homology_3

Graphical View of Domain Structure for InterPro Entry Q9NSV4

ProtoNet protein and cluster: Q9NSV4

4 Blocks protein families:

IPB001427 Pancreatic ribonuclease

IPB003104 Actin-binding FH2

IPB010465 DRF autoregulatory

IPB010472 Diaphanous FH3

UniProtKB/Swiss-Prot: DIAP3_HUMAN, Q9NSV4

Domain: The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This

autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain

to then nucleate and elongate nonbranched actin filaments (By similarity)

Similarity: Belongs to the formin homology family. Diaphanous subfamily

Similarity: Contains 1 DAD (diaphanous autoregulatory) domain

Similarity: Contains 1 FH1 (formin homology 1) domain

Similarity: Contains 1 FH2 (formin homology 2) domain

Similarity: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DIAP3_HUMAN, Q9NSV4

Function: Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the

membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and

transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during

signaling and the regulation of actin dynamics (By similarity)

Genatlas biochemistry entry for DIAPH3:

Drosophila diaphanous gene 3,with four alternatively spliced isoforms,involved in ovarian follicle formation and in

spermatogenesis

miRNA Products:		OriGene 3'-UTR Clone: DIAPH3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIAPH3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate DIAPH3:
		hsa-miR-219-5p
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIAPH3 (see all 4) OriGene shRNA RFP: DIAPH3 OriGene siRNA: DIAPH3
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DIAPH3

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		GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH3 (NM_001042517)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DIAPH3
		Search LifeMap BioReagents cell lines for DIAPH3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH3

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0017048	Rho GTPase binding	IEA	--

DIAPH3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for DIAPH3:

Increased homologous recombina

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G-protein signaling_RhoA regulation pathway

G-protein signaling RhoB regulation pathway

0.16

G-protein signaling_RhoB regulation pathway

0.16

ErbB1 downstream signaling

ErbB1 downstream signaling

1.00

Rho Family GTPases

Rho Family GTPases

1.00

Regulation of Actin Cytoskeleton

Regulation of actin cytoskeleton

0.58

Actin Nucleation by ARP-WASP Complex

CDC42 Pathway

0.34

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for DIAPH3

G-protein signaling RhoB regulation pathway

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DIAPH3

	CDC42 Pathway
	Rho Family GTPases

1 GeneGo (Thomson Reuters) Pathway for DIAPH3

G-protein signaling RhoB regulation pathway

2 BioSystems Pathways for DIAPH3

	CDC42 signaling events
	ErbB1 downstream signaling

1 Kegg Pathway (Kegg details for DIAPH3):

Regulation of actin cytoskeleton

DIAPH3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DIAPH3

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/575 Interacting proteins for DIAPH3 (Q9NSV4^{2, 3} ENSP00000383178⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 575)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD9	O15198²^,³	MINT-62141 I2D: score=3
HDAC6	Q9UBN7³, ENSP00000334061⁴	I2D: score=1 STRING: ENSP00000334061
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
NCKIPSD	Q9NZQ3³, ENSP00000294129⁴	I2D: score=1 STRING: ENSP00000294129
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030036	actin cytoskeleton organization	IEA	--

DIAPH3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DIAPH3

1 HMDB Compound for DIAPH3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Search CenterWatch for drugs/clinical trials and news about DIAPH3 / DIAP3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DIAPH3 gene (7 alternative transcripts):

NM_001042517.1 NM_001258366.1 NM_001258367.1 NM_001258368.1 NM_001258369.1 NM_001258370.1 NM_030932.3

Unigene Cluster for DIAPH3:

Diaphanous homolog 3 (Drosophila)

Hs.283127 [show with all ESTs]

Unigene Representative Sequence: NM_001042517

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000400324(uc001vhs.3) ENST00000377908 ENST00000400319 ENST00000400320

ENST00000470420 ENST00000267215 ENST00000465066(uc001vhu.3) ENST00000498416(uc001vhv.3)

ENST00000400330(uc001vht.3 uc001vhw.1 uc010aed.1 uc010aee.1)

miRNA Products:		OriGene 3'-UTR Clone: DIAPH3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIAPH3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate DIAPH3:
		hsa-miR-219-5p
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIAPH3 (see all 4) OriGene shRNA RFP: DIAPH3 OriGene siRNA: DIAPH3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIAPH3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH3 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH3 (NM_001042517)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIAPH3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIAPH3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIAPH3

Additional cDNA sequence:

AB244756.1 AB244757.1 AB244758.1 AK092024.1 AK298509.1 AK307652.1 AK316474.1 AL137718.1

AY750055.1 AY818645.1 BC034952.1 BC041395.1 BC048963.1 BC068504.1 BX649186.1

5 DOTS entries:

DT.95349985 DT.99938768 DT.120780173 DT.206993 DT.95227056

24/30 AceView cDNA sequences (see all 30):

BC048963 NM_030932 BX111909 BX475796 AK092024 BG576056 AA780384 BM543198

AL137718 BC068504 BX649186 AX747319 BQ892842 AA992378 BG722024 BG772015

BF979672 BC034952 BV192444 CD557130 BX283170 BG944182 BF980314 BP371061

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DIAPH3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCTTTTGTG

About this image

DIAPH3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (Generation of mesend...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DIAPH3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DIAPH3

SOURCE GeneReport for Unigene cluster: Hs.283127

SABiosciences Custom PCR Arrays for DIAPH3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIAPH3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIAPH3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DIAPH3 gene from 7/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DIAPH3¹	diaphanous homolog 3 (Drosophila)	75.54(n) 74.42(a)		418824 XM_417020.3 XP_417020.2
lizard (Anolis carolinensis)	Reptilia	DIAPH3⁶	--	61(a)	1 ↔ 1	3(75602478-75660587)
African clawed frog (Xenopus laevis)	Amphibia	Xl.30055²	Xenopus laevis transcribed sequence with weak similarity more	73.5(n)		BG408251.1
zebrafish (Danio rerio)	Actinopterygii	CABZ01084040.1⁶ diaph3⁶	diaphanous homolog 3 (Drosophila)	8(a) 66(a)	possible ortholog 1 ↔ 1	17(881701-925832) 11(32587203-32906122)
fruit fly (Drosophila melanogaster)	Insecta	dia⁶	diaphanous	35(a)	1 → many	2L(20758147-20767536)
worm (Caenorhabditis elegans)	Secernentea	cyk-1⁶	CYtoKinesis defect family member (cyk-1)	14(a)	1 → many	III(7023585-7029139)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	formin-like protein 13, putative, expressed (see all 3)	8(a) 7(a) (see all 3)	possible ortholog possible ortholog (see all 3)	7(24273183-24275962) 6(4223296-4227007)

ENSEMBL Gene Tree for DIAPH3 (if available)
TreeFam Gene Tree for DIAPH3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DIAPH3 gene

DIAPH1² DAAM1² FMNL3² FHDC1² FMNL1² FMNL2² DAAM2² INF2²

GRID2IP² FMN1² DIAPH2² FMN2²

4 SIMAP similar genes for DIAPH3 using alignment to 2 protein entries: DIAP3_HUMAN (see all proteins):

DIAPH2 DIAPH1 DAAM1 DAAM2

DIAPH3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188455655^1,2		--	60239306(+)	`TATGTA/GAATGT`	4	--	ds500¹		0	--	--	--	--
rs9563753^1,2	C,F,A,H,	--	60239428(+)	`GGCTAT/CAGAGA`	4	--	ds500¹		25		EA NA NS WA CSA	1435
rs114483199^1,2		--	60239644(+)	`TTAGAC/TAGACT`	4	--	ds500¹		1		WA	118
rs141572271^1,2		--	60239745(+)	`GCAAGA/TTTATT`	4	--	ut3¹		0	--	--	--	--
rs191144007^1,2		--	60239821(+)	`AACTTG/TCCTTG`	4	--	ut3¹		0	--	--	--	--
rs147042472^1,2		--	60239878(+)	`AGAAAC/TTGCAA`	4	--	ut3¹		0	--	--	--	--
rs75878997^1,2	F,	--	60239957(+)	`GAGTCA/TTAATT`	4	--	ut3¹		1		EA	120
rs138262183^1,2		--	60240070(+)	`AGTGCA/GTACAT`	4	--	ut3¹		0	--	--	--	--
rs182530464^1,2		--	60240164(+)	`ATAATC/GGGGTC`	4	--	ut3¹		0	--	--	--	--
rs200390524^1,2	C	--	60240491(+)	`GGAGAA/CAAAAA`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DIAPH3 (60239717 - 60489717 bp, first 250kb of DIAPH3)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DIAPH3
2 CNVs: 4806 5713
1 Indel: 11678
Human Gene Mutation Database (HGMD): DIAPH3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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DIAPH3 for disorders About GeneDecksing

OMIM gene information: 614567 OMIM disorders: --

UniProtKB/Swiss-Prot: DIAP3_HUMAN, Q9NSV4

Defects in DIAPH3 are the cause of auditory neuropathy, autosomal dominant, type 1 (AUNA1) [MIM:609129]. A

form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of

normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion

in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the

auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Note=A disease-causing mutation in

the conserved 5'-UTR leads to increased protein expression (PubMed:20624953)

5 diseases for DIAPH3: About MalaCards

auditory neuropathy neuropathy prostate cancer prostatitis

pancreatitis

1 disease from the University of Copenhagen DISEASES database for DIAPH3:

Benign epilepsy with centrotemporal spikes

Export disorders for DIAPH3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DIAPH3 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with DIAPH3)

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Increased activity of Diaphanous homolog 3 (DIAPH3)/d iaphanous causes hearing defects in humans with auditory neuropathy and in Dros ophila. (PubMed id 20624953)^{1, 2, 3} Schoen C.J....Lesperance M.M. (2010)
Identification and characterization of human DIAPH3 gene in silico. (PubMed id 14767582)^{1, 3, 9} Katoh M. and Katoh M. (2004)
Filopodia formation induced by active mDia2/Drf3. (PubMed id 18755006)^{1, 2, 9} Block J....Faix J. (2008)
Ubiquitin-mediated degradation of the formin mDia2 up on completion of cell division. (PubMed id 19457867)^{1, 2} DeWard A.D. and Alberts A.S. (2009)
The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)^{1, 2} Dunham A.... Ross M.T. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)¹ Aichem A....Groettrup M. (2012)
DIAPH3 governs the cellular transition to the amoeboid tumour phenotype. (PubMed id 22593025)¹ Hager M.H....Freeman M.R. (2012)
Differing and isoform-specific roles for the formin DI APH3 in plasma membrane blebbing and filopodia formation. (PubMed id 22184005)¹ Stastna J....Fackler O.T. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 81624	HGNC: 15480	AceView: DIAPH3	Ensembl:ENSG00000139734	euGenes: HUgn81624
ECgene: DIAPH3	Kegg: 81624	H-InvDB: DIAPH3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DIAPH3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DIAPH3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DIAPH3 gene:
Search GeneIP for patents involving DIAPH3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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diaphanous homolog 3 (Drosophila)

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diaphanous homolog 3 (Drosophila)

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