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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIAPH3 Gene

protein-coding   GIFtS: 60
GCID: GC13M060239

Diaphanous-Related Formin 3

(Previous names: diaphanous (Drosophila, homolog) 3, auditory neuropathy,...)
(Previous symbol: AUNA1)
  See 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)
About This Section

Aliases
Diaphanous-Related Formin 31 2     DIA22
AUNA11 2     NSDAN2
Diaphanous-Related Formin-32 3     diap32
DRF32 3     Diaphanous Homolog 32
Auditory Neuropathy, Autosomal Dominant 11     mDia22
Diaphanous (Drosophila, Homolog) 31     Protein Diaphanous Homolog 32
Diaphanous Homolog 3 (Drosophila)1     DIAP33
AN2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and benign epilepsy with centrotemporal spikes, and among its related super-pathways are ERK Signaling and Regulation of Actin Cytoskeleton. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  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:
60,738,121 bp from pter
Size:
498,405 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for DIAPH3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NSV4

  • DIAPH3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DIAPH3 Protein Expression
    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 for DIAPH3: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for DIAPH3
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for DIAPH3
    GenScript Custom Purified and Recombinant Proteins Services for DIAPH3
    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 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--

    DIAPH3 for ontologies           About GeneDecksing



    DIAPH3 Antibody Products: 
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    Novus Biologicals DIAPH3 Antibodies
    Abcam antibodies for DIAPH3
    Cloud-Clone Corp. Antibodies for DIAPH3 
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    LSBio Antibodies in human, mouse, rat for DIAPH3 

    Assay Products for DIAPH3: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DIAPH3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DIAPH3 
    Cloud-Clone Corp. CLIAs for DIAPH3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR010473 Drf_GTPase-bd
     IPR010472 Drf_FH3
     IPR015425 FH2_actin-bd
     IPR014767 Diaphanous_autoregulatory
     IPR003104 Actin-bd_FH2/DRF_autoreg

    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


    DIAPH3 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005488binding ----
    GO:0017048Rho GTPase binding IEA--
         
    DIAPH3 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DIAPH3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate DIAPH3:
    hsa-miR-219-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DIAPH3

    Clone
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    OriGene clones in human, mouse for DIAPH3 (see all 13)
    OriGene ORF clones in mouse, rat for DIAPH3
    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
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                         Customized lentivirus expression plasmids for stable overexpression of DIAPH3 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH3


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DIAPH3 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Rho Family GTPases
    Rho Family GTPases0.61
    2Regulation of Actin Cytoskeleton
    Regulation of actin cytoskeleton0.57
    3G-protein signaling RhoB regulation pathway
    G-protein signaling RhoB regulation pathway1.00
    4Actin Nucleation by ARP-WASP Complex
    CDC42 Pathway0.41
    5CDC42 signaling events
    CDC42 signaling events0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    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 CentralTM Interacting Genes and Proteins Networks for DIAPH3

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

    5/603 Interacting proteins for DIAPH3 (Q9NSV42, 3 ENSP000003831784) via UniProtKB, MINT, STRING, and/or I2D (see all 603)
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016043cellular component organization ----
    GO:0030036actin 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, Ligands according to IUPHAR, 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 (DIAP3)

    1 HMDB Compound for DIAPH3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-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 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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate DIAPH3:
    hsa-miR-219-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for DIAPH3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIAPH3
    Clone
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    OriGene clones in human, mouse for DIAPH3 (see all 13)
    OriGene ORF clones in mouse, rat for DIAPH3
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of DIAPH3 
                         Customized lentivirus expression plasmids for stable overexpression of DIAPH3 
    Primer
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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 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 

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

    BM543198 NM_030932 BG576056 AK092024 BQ892842 BX649186 AA780384 BC048963 
    BX111909 AL137718 BC068504 AX747319 BX475796 BF979672 BV192444 BC034952 
    BF980314 BG722024 CD557130 BG772015 BX283170 AA992378 BG944182 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)      DIAPH3 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells
     
     Peripheral Nervous System (Nervous System)
             Human Schwann Cells (HSC)   
     
     Uncategorized (Uncategorized)
             PureStem Progenitor ES-198
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical cord blood-derived mesenchymal stem cells
     
     Endothelium (Cardiovascular System)
             blood vessel   

    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
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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 animals.

    Orthologs for DIAPH3 gene from 7/15 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 86.81(n)1
    85.26(a)1
      14 (43.95 cM)5
    564191  NM_019670.11  NP_062644.11 
     866563235 
    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
    Uncharacterized protein
    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)
    fruit fly
    (Drosophila melanogaster)
    Insecta form36
    dia6
    diaphanous
    9(a)
    35(a)
    possible ortholog
    1 ↔ many
    3L(7087918-7116397)
    2L(20758147-20767536)
    worm
    (Caenorhabditis elegans)
    Secernentea cyk-16
    inft-16
    Protein INFT-1
    19(a)
    15(a)
    1 ↔ many
    possible ortholog
    III(7023642-7029196)
    III(1103224-1112298)


    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
    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

    DIAPH3 for paralogs           About GeneDecksing



    (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) 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

    10/8503 SNPs in DIAPH3 are shown (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) 10/12 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614567    OMIM disorders: --

    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)

  • 7 diseases for DIAPH3:    About MalaCards
    auditory neuropathy    benign epilepsy with centrotemporal spikes    neuropathy    sensorineural hearing loss
    prostate cancer    prostatitis    pancreatitis

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

    DIAPH3 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for DIAPH3 gene, integrated from 9 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)/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)
    2. Identification and characterization of human DIAPH3 gene in silico. (PubMed id 14767582)1, 3, 9 Katoh M. and Katoh M. (2004)
    3. Filopodia formation induced by active mDia2/Drf3. (PubMed id 18755006)1, 2, 9 Block J....Faix J. (2008)
    4. 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)
    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. (2007)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    9. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    10. Control of myofibroblast differentiation by microtubul e dynamics through a regulated localization of mDia2. (PubMed id 23580645)1 Sandbo N....Dulin N. (2013)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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