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DIAPH3 Gene

protein-coding   GIFtS: 61
GCID: GC13M060239

Diaphanous-Related Formin 3

(Previous names: diaphanous (Drosophila, homolog) 3, auditory neuropathy,...)
(Previous symbol: AUNA1)
  See DIAPH3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Diaphanous-Related Formin 31 2     Diaphanous Homolog 3 (Drosophila)1
AUNA11 2 5     AN2
DRF32 3 5     diap32
Diaphanous-Related Formin-32 3     Diaphanous Homolog 32
DIA22 5     mDia22
NSDAN2 5     Protein Diaphanous Homolog 32
Auditory Neuropathy, Autosomal Dominant 11     DIAP33
Diaphanous (Drosophila, Homolog) 31     MDia23

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DIAPH3 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 1. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for DIAPH3 Gene:
DIAPH3 (diaphanous-related formin 3) is a protein-coding gene. Diseases associated with DIAPH3 include auditory neuropathy, autosomal dominant, 1, and auditory neuropathy. GO annotations related to this gene include Rho GTPase binding and actin binding. An important paralog of this gene is DAAM1.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   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 Chromatin IP Primers for DIAPH3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
60,738,121 bp from pter
Size:
498,405 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DIAP3_HUMAN, Q9NSV4 (See protein sequence)
Recommended Name: Protein diaphanous homolog 3  
Size: 1193 amino acids; 136926 Da
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

Explore proteomics data for DIAPH3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys139
  • Modification sites at PhosphoSitePlus

  • See DIAPH3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    DIAPH3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for DIAPH3
    OriGene Custom MassSpec
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    Novus Biologicals DIAPH3 Proteins
    Novus Biologicals DIAPH3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DIAPH3

     
    Search eBioscience for Proteins for DIAPH3 

    DIAPH3 Antibody Products:

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    Abcam antibodies for DIAPH3
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    LSBio Antibodies in human, mouse, rat for DIAPH3

    DIAPH3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DIAPH3
    Cloud-Clone Corp. CLIAs for DIAPH3
    Search eBioscience for ELISAs for DIAPH3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR010473 GTPase-bd
     IPR010472 FH3_dom
     IPR027654 Formin_DIAPH3
     IPR015425 FH2_Formin
     IPR014767 Diaphanous_autoregulatory

    Graphical View of Domain Structure for InterPro Entry Q9NSV4

    ProtoNet protein and cluster: Q9NSV4

    4 Blocks protein domains:
    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


    Find genes that share domains with DIAPH3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005488binding ----
    GO:0017048Rho GTPase binding IEA--
         
    Find genes that share ontologies with DIAPH3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DIAPH3:
     Increased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIAPH3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DIAPH3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIAPH3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DIAPH3

    miRNA
    Products:
        
    miRTarBase miRNAs that target DIAPH3:
    hsa-mir-155-5p (MIRT020756)

    Block miRNA regulation of human, mouse, rat DIAPH3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DIAPH3:
    hsa-miR-219-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DIAPH3
    Predesigned siRNA for gene silencing in human, mouse, rat DIAPH3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for DIAPH3

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    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIAPH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DIAPH3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DIAP3_HUMAN, Q9NSV4: Cytoplasm, cytosol. Note=During mitosis, co-localizes with the actin-rich cleavage furrow
    and with the microtubule-rich central spindle during cytokinesis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    cytoskeleton2
    mitochondrion2
    nucleus2
    endosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--

    Find genes that share ontologies with DIAPH3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DIAPH3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    Rho Family GTPases0.61
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    3Actin Nucleation by ARP-WASP Complex
    CDC42 Pathway0.41
    4CDC42 signaling events
    CDC42 signaling events0.34
    5G protein signaling RhoB regulation pathway
    G protein signaling RhoB regulation pathway


    Find genes that share SuperPaths with DIAPH3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DIAPH3
    Interactions:

        Search GeneGlobe Interaction Network for DIAPH3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for DIAPH3 (Q9NSV42, 3 ENSP000003831784) via UniProtKB, MINT, STRING, and/or I2D (see all 611)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62141 I2D: score=3 
    HDAC6Q9UBN73, ENSP000003340614I2D: score=1 STRING: ENSP00000334061
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    NCKIPSDQ9NZQ33, ENSP000002941294I2D: score=1 STRING: ENSP00000294129
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis IEA--
    GO:0016043cellular component organization ----
    GO:0030036actin cytoskeleton organization IEA--

    Find genes that share ontologies with DIAPH3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DIAPH3 (DIAP3)

    1 HMDB Compound for DIAPH3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Block miRNA regulation of human, mouse, rat DIAPH3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DIAPH3:
    hsa-miR-219-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DIAPH3
    Predesigned siRNA for gene silencing in human, mouse, rat DIAPH3
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    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIAPH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH3
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIAPH3
      QuantiTect SYBR Green Assays in human, mouse, rat DIAPH3
      QuantiFast Probe-based Assays in human, mouse, rat DIAPH3

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 30):

    BQ892842 BX111909 AA780384 BM543198 BC068504 BX649186 BC048963 NM_030932 
    AL137718 BG576056 AK092024 AX747319 BX475796 BC034952 BF979672 BP371061 
    BG772015 BF980314 BX283170 CD557130 BG944182 AA992378 BV192444 BG722024 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DIAPH3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTTTGTG
    DIAPH3 Expression
    About this image


    DIAPH3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Testis (Reproductive System)
    DIAPH3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIAPH3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.283127
        Custom PCR Arrays for DIAPH3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DIAPH3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIAPH3
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for DIAPH3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Diap31 , 5 diaphanous homolog 3 (Drosophila)1, 5 86.34(n)1
    84.51(a)1
      14 (43.95 cM)5
    564191  NM_019670.11  NP_062644.11 
     866563235 
    chicken
    (Gallus gallus)
    Aves DIAPH36
    diaphanous-related formin 3
    74(a)
    1 ↔ 1
    1(161696600-161932705)
    lizard
    (Anolis carolinensis)
    Reptilia DIAPH36
    diaphanous-related formin 3
    62(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 diaph36
    diaphanous homolog 3 (Drosophila)
    66(a)
    1 ↔ 1
    11(32587203-32906122) ENSDARG00000090785
    fruit fly
    (Drosophila melanogaster)
    Insecta dia6
    diaphanous
    36(a)
    1 → many
    2L(20758147-20767536)
    worm
    (Caenorhabditis elegans)
    Secernentea cyk-16
    Protein CYK-1, isoform a (cyk-1) mRNA, complete cd...
    22(a)
    1 → many
    III(7023642-7029196) WBGene00000872


    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)
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    Paralogs for DIAPH3 gene
    DAAM12  DIAPH12  FMNL32  FHDC12  FMNL12  DAAM22  INF22  FMNL22  
    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

    Find genes that share paralogs with DIAPH3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DIAPH3 (see all 8503)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1884556551,2
    --41146869(+) TATGTA/GAATGT 4 -- ds50010--------
    rs95637531,2
    C,F,A,H--41146991(+) GGCTAT/CAGAGA 4 -- ds500125Minor allele frequency- C:0.28EA NA NS WA CSA 1435
    rs1144831991,2
    F--41147207(+) TTAGAC/TAGACT 4 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1415722711,2
    C--41147308(+) GCAAGA/TTTATT 4 -- ut310--------
    rs1911440071,2
    --41147384(+) AACTTG/TCCTTG 4 -- ut310--------
    rs1470424721,2
    C--41147441(+) AGAAAC/TTGCAA 4 -- ut310--------
    rs758789971,2
    F--41147520(+) GAGTCA/TTAATT 4 -- ut311Minor allele frequency- T:0.03EA 120
    rs1382621831,2
    --41147633(+) AGTGCA/GTACAT 4 -- ut310--------
    rs1825304641,2
    --41147727(+) ATAATC/GGGGTC 4 -- ut310--------
    rs2003905241,2
    C--41148054(+) GGAGAA/CAAAAA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for DIAPH3 (60239717 - 60489717 bp, first 250kb of DIAPH3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DIAPH3 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747485CNV Deletion23290073
    esv2664013CNV Deletion23128226
    esv268908CNV Insertion20981092
    nsv507704CNV Insertion20534489
    esv1720162CNV Insertion17803354
    esv268647CNV Insertion20981092
    nsv64931CNV Loss16902084
    nsv64137CNV Loss16902084
    nsv519334CNV Loss19592680
    nsv900237CNV Loss21882294

    Human Gene Mutation Database (HGMD): DIAPH3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DIAPH3
    DNA2.0 Custom Variant and Variant Library Synthesis for DIAPH3

    (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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    OMIM gene information: 614567   
    OMIM disorders: 609129  
    UniProtKB/Swiss-Prot: DIAP3_HUMAN, Q9NSV4
  • Auditory neuropathy, autosomal dominant, 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=The disease is caused by mutations affecting
    the gene represented in this entry. A disease-causing mutation in the conserved 5'-UTR leads to increased protein
    expression (PubMed:20624953)

  • 5 diseases for DIAPH3:    
    About MalaCards
    auditory neuropathy, autosomal dominant, 1    auditory neuropathy    benign epilepsy with centrotemporal spikes    neuropathy
    deafness, autosomal dominant 4b

    1 disease from the University of Copenhagen DISEASES database for DIAPH3:
    Benign epilepsy with centrotemporal spikes

    Find genes that share disorders with DIAPH3           About GenesLikeMe

    Genetic Association Database (GAD): DIAPH3

    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 10 sources (see all 40):
    (articles sorted by number of sources associating them with DIAPH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. (PubMed id 20624953)1, 2, 3 Schoen C.J.... Lesperance M.M. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    2. Identification and characterization of human DIAPH3 gene in silico. (PubMed id 14767582)1, 3, 9 Katoh M. and Katoh M. (Int. J. Mol. Med. 2004)
    3. Filopodia formation induced by active mDia2/Drf3. (PubMed id 18755006)1, 2, 9 Block J.... Faix J. (J. Microsc. 2008)
    4. Ubiquitin-mediated degradation of the formin mDia2 upon completion of cell division. (PubMed id 19457867)1, 2 DeWard A.D. and Alberts A.S. (J. Biol. Chem. 2009)
    5. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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. (Genome Res. 2004)
    9. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    10. Control of myofibroblast differentiation by microtubule dynamics through a regulated localization of mDia2. (PubMed id 23580645)1 Sandbo N....Dulin N. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DIAPH3 Pharmacogenomics, SNPs, Pathways

    (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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