Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DIAPH2 Gene

protein-coding   GIFtS: 66
GCID: GC0XP095939

Diaphanous-Related Formin 2

(Previous names: diaphanous (Drosophila, homolog) 2, diaphanous homolog 2...)
  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

TryGeneCards Plus

Aliases
Diaphanous-Related Formin 21 2     Diaphanous Homolog 2 (Drosophila)1
DIA2 3 5     DIA22
Diaphanous-Related Formin-22 3     POF2
DRF22 3     Diaphanous Homolog 22
POF22 5     diaphorase-22
Diaphanous (Drosophila, Homolog) 21     Protein Diaphanous Homolog 22

External Ids:    HGNC: 28771   Entrez Gene: 17302   Ensembl: ENSG000001472027   OMIM: 3001085   UniProtKB: O608793   

Export aliases for DIAPH2 gene to outside databases

Previous GC identifers: GC0XU990041 GC0XP093083 GC0XP093975 GC0XP094711 GC0XP095745 GC0XP095826 GC0XP085739


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

TryGeneCards Plus

Entrez Gene summary for DIAPH2 Gene:
The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene
may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to
premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been
identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for DIAPH2 Gene:
DIAPH2 (diaphanous-related formin 2) is a protein-coding gene. Diseases associated with DIAPH2 include premature ovarian failure 2a, and premature ovarian failure. GO annotations related to this gene include Rho GTPase binding and actin binding. An important paralog of this gene is DAAM1.

UniProtKB/Swiss-Prot: DIAP2_HUMAN, O60879
Function: Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel
signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the
motility of early endosomes through interactions with the actin cytoskeleton

Gene Wiki entry for DIAPH2 Gene


(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DIAPH2 gene promoter:
         C/EBPbeta   S8   NF-kappaB   NF-kappaB1   C/EBPalpha   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIAPH2 promoter sequence
   Search Chromatin IP Primers for DIAPH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIAPH2


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

Entrez Gene cytogenetic band: Xq21.33   Ensembl cytogenetic band:  Xq21.33   HGNC cytogenetic band: Xq22

DIAPH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIAPH2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP095939:  view genomic region     (about GC identifiers)

Start:
95,939,662 bp from pter      End:
96,859,996 bp from pter
Size:
920,335 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: DIAP2_HUMAN, O60879 (See protein sequence)
Recommended Name: Protein diaphanous homolog 2  
Size: 1101 amino acids; 125569 Da
Subunit: Isoform 3 interacts with RHOD in the GTP-bound form
Developmental stage: Expressed from E16 in ovary and testis and during P6-P16 during differentiation of ovarian
follicles
Secondary accessions: A6NG19 O60878 Q8WX06 Q8WX48 Q9UJL2
Alternative splicing: 3 isoforms:  O60879-1   O60879-2   O60879-3   

Explore the universe of human proteins at neXtProt for DIAPH2: NX_O60879

Explore proteomics data for DIAPH2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DIAPH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_006720.1  NP_009293.1  

    ENSEMBL proteins: 
     ENSP00000362140   ENSP00000321348   ENSP00000362152   ENSP00000362145   ENSP00000348082  

    DIAPH2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DIAPH2
    GenScript Custom Purified and Recombinant Proteins Services for DIAPH2
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DIAPH2

    DIAPH2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for DIAPH2 (DIAPH-2)
    Cell Signaling Technology (CST) Antibodies for DIAPH2  (diaphanous 2)
    OriGene Antibodies for DIAPH2
    OriGene Custom Antibody Services for DIAPH2
    Novus Biologicals DIAPH2 Antibodies
    Abcam antibodies for DIAPH2
    Cloud-Clone Corp. Antibodies for DIAPH2
    ThermoFisher Antibody for DIAPH2
    LSBio Antibodies in human, mouse, rat for DIAPH2

    DIAPH2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DIAPH2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DIAPH2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DIAPH2
    Cloud-Clone Corp. CLIAs for DIAPH2


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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 7):
     IPR010473 GTPase-bd
     IPR010472 FH3_dom
     IPR015425 FH2_Formin
     IPR014767 Diaphanous_autoregulatory
     IPR014768 GTPase-bd/formin_homology_3

    Graphical View of Domain Structure for InterPro Entry O60879

    ProtoNet protein and cluster: O60879

    3 Blocks protein domains:
    IPB003104 Actin-binding FH2
    IPB010465 DRF autoregulatory
    IPB010472 Diaphanous FH3


    UniProtKB/Swiss-Prot: DIAP2_HUMAN, O60879
    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


    DIAPH2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DIAP2_HUMAN, O60879
    Function: Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel
    signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the
    motility of early endosomes through interactions with the actin cytoskeleton

         Genatlas biochemistry entry for DIAPH2:
    Drosophila diaphanous homolog 2,in the DFN2 region

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005102receptor binding TAS9497258
    GO:0005488binding ----
    GO:0017048Rho GTPase binding IEA--
         
    DIAPH2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DIAPH2:
     Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Diap2):
     cardiovascular system  nervous system  normal 

    DIAPH2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIAPH2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DIAPH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIAPH2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DIAPH2

    miRNA
    Products:
        
    miRTarBase miRNAs that target DIAPH2:
    hsa-mir-17-3p (MIRT050782), hsa-mir-10b-5p (MIRT047452)

    Block miRNA regulation of human, mouse, rat DIAPH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIAPH2 (see all 40):
    hsa-miR-124* hsa-miR-548j hsa-miR-142-5p hsa-miR-26a-2* hsa-miR-3938 hsa-miR-19b-2* hsa-miR-548k hsa-miR-548l
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DIAPH2
    Predesigned siRNA for gene silencing in human, mouse, rat DIAPH2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DIAPH2

    Clone
    Products:
         
    OriGene clones in human, mouse for DIAPH2 (see all 12)
    OriGene ORF clones in mouse, rat for DIAPH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH2 (NM_007309)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIAPH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DIAPH2
    Browse ESI BIO Cell Lines and PureStem Progenitors for DIAPH2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    DIAP2_HUMAN, O60879: Isoform 3: Cytoplasm, cytosol. Early endosome. Note=Isoform 3 is cytosolic but when
    coexpressed with RHOD, the 2 proteins colocalize to early endosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    golgi apparatus4
    mitochondrion4
    nucleus4
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus ----
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----
    GO:0005769early endosome IEA--
    GO:0005794Golgi apparatus ----

    DIAPH2 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for DIAPH2 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    2Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DIAPH2
        Cytoskeletal Signaling


    1 Kegg Pathway  (Kegg details for DIAPH2):
        Regulation of actin cytoskeleton


    DIAPH2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including DIAPH2: 
              Embryonic Stem Cells in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DIAPH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for DIAPH2 (O608792, 3 ENSP000003213484) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APBB1O002133, ENSP000002994024I2D: score=2 STRING: ENSP00000299402
    CENPAP494503, ENSP000003368684I2D: score=3 STRING: ENSP00000336868
    NCKIPSDQ9NZQ33, ENSP000002941294I2D: score=2 STRING: ENSP00000294129
    RHODO002123, ENSP000003085764I2D: score=3 STRING: ENSP00000308576
    TCERG1O147763, ENSP000002967024I2D: score=2 STRING: ENSP00000296702
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis TAS9497258
    GO:0007275multicellular organismal development IEA--
    GO:0007292female gamete generation TAS9497258
    GO:0016043cellular component organization ----
    GO:0030036actin cytoskeleton organization ----

    DIAPH2 for ontologies           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DIAPH2 (DIAP2)

    1 HMDB Compound for DIAPH2    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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for DIAPH2 gene (2 alternative transcripts): 
    NM_006729.4  NM_007309.3  

    Unigene Cluster for DIAPH2:

    Diaphanous homolog 2 (Drosophila)
    Hs.226483  [show with all ESTs]
    Unigene Representative Sequence: Y15909
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373049 ENST00000324765 ENST00000373061(uc004efu.4) ENST00000373054
    ENST00000355827(uc004efs.2 uc004eft.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DIAPH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIAPH2 (see all 40):
    hsa-miR-124* hsa-miR-548j hsa-miR-142-5p hsa-miR-26a-2* hsa-miR-3938 hsa-miR-19b-2* hsa-miR-548k hsa-miR-548l
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DIAPH2
    Predesigned siRNA for gene silencing in human, mouse, rat DIAPH2
    Clone
    Products:
         
    OriGene clones in human, mouse for DIAPH2 (see all 12)
    OriGene ORF clones in mouse, rat for DIAPH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH2 (NM_007309)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIAPH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DIAPH2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIAPH2
      QuantiTect SYBR Green Assays in human, mouse, rat DIAPH2
      QuantiFast Probe-based Assays in human, mouse, rat DIAPH2

    Additional mRNA sequence: 

    AK002029.1 AK291272.1 BC117414.1 BC143838.1 Y15908.1 Y15909.1 

    9 DOTS entries:

    DT.100774067  DT.453575  DT.121287966  DT.95160529  DT.86846514  DT.121287921  DT.121287922  DT.40132210 
    DT.75116853 

    Selected AceView cDNA sequences (see all 57):

    AI953693 AI655528 CF541166 BI966136 BM543336 AI990078 BQ068606 AW276516 
    AU137794 BF591114 AI635349 BU501638 AI651404 BE089360 AW511519 U69179 
    AA368393 AK002029 BG035430 AI651902 CK904033 AI341133 BG678748 BE463745 

    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)
    About This Section

    TryGeneCards Plus

    DIAPH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DIAPH2 Expression
    About this image


    DIAPH2 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
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Larynx (Respiratory System)
    DIAPH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIAPH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.226483

    UniProtKB/Swiss-Prot: DIAP2_HUMAN, O60879
    Tissue specificity: Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including DIAPH2: 
              Embryonic Stem Cells in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DIAPH2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIAPH2
    QuantiTect SYBR Green Assays in human, mouse, rat DIAPH2
    QuantiFast Probe-based Assays in human, mouse, rat DIAPH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for DIAPH2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Diap25 diaphanous homolog 2 (Drosophila)   --   X (52.36 cM) 129749742 
    chicken
    (Gallus gallus)
    Aves DIAPH11 diaphanous homolog 1 (Drosophila) 75.77(n)
    78.07(a)
      374040  NM_204210.1  NP_989541.1 
    lizard
    (Anolis carolinensis)
    Reptilia DIAPH26
    diaphanous-related formin 2
    72(a)
    1 ↔ 1
    GL343387.1(264740-298125)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL959924.22   -- 76.41(n)    AL959924.2 
    zebrafish
    (Danio rerio)
    Actinopterygii diaph21 diaphanous homolog 2 (Drosophila) 65.36(n)
    69.77(a)
      556029  XM_678721.6  XP_683813.6 
    fruit fly
    (Drosophila melanogaster)
    Insecta dia3 actin filament-based process actin
    binding
    41(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea cyk-16
    Protein CYK-1, isoform a (cyk-1) mRNA, complete cd...
    20(a)
    1 → many
    III(7023642-7029196) WBGene00000872


    ENSEMBL Gene Tree for DIAPH2 (if available)
    TreeFam Gene Tree for DIAPH2 (if available)

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

    TryGeneCards Plus
    Paralogs for DIAPH2 gene
    DAAM12  DIAPH12  FMNL32  FHDC12  FMNL12  DAAM22  INF22  FMNL22  
    GRID2IP2  FMN12  FMN22  DIAPH32  
    4 SIMAP similar genes for DIAPH2 using alignment to 6 protein entries:     DIAP2_HUMAN (see all proteins):
    DIAPH3    DIAPH1    DAAM1    DAAM2

    DIAPH2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DIAPH2
    PGOHUM00000243718


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for DIAPH2 (see all 11867)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1882337501,2
    --95902352(+) GTGCAA/GTGCAG 2 -- us2k10--------
    rs1932621221,2
    --95902477(+) CTGAAA/GAAATG 2 -- us2k10--------
    rs1845267201,2
    --95902538(+) ATGGAA/CCACAC 2 -- us2k10--------
    rs1398424901,2
    --95902697(+) CTAAAC/GTTTAA 2 -- us2k10--------
    rs1877376801,2
    --95902755(+) TTGAGA/CACCCT 2 -- us2k10--------
    rs1914317881,2
    --95902840(+) TCCATA/GATTAA 2 -- us2k10--------
    rs1498265041,2
    --95902865(+) GGGCAC/TGGTGG 2 -- us2k10--------
    rs1835712331,2
    --95903062(+) AACCCA/GGGAGG 2 -- us2k10--------
    rs1886481731,2
    --95903069(+) GAGGTA/GGAGAT 2 -- us2k10--------
    rs59499731,2
    C,F,A--95903097(+) gcaccA/Tttgca 2 -- us2k11Minor allele frequency- T:0.00CSA 1

    HapMap Linkage Disequilibrium report for DIAPH2 (95939662 - 96189662 bp, first 250kb of DIAPH2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DIAPH2 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740344CNV Deletion23290073
    esv2740345CNV Deletion23290073
    esv2740343CNV Deletion23290073
    esv2740346CNV Deletion23290073
    esv2675434CNV Deletion23128226
    nsv7000CNV Insertion18451855
    nsv507985CNV Insertion20534489
    nsv507986CNV Insertion20534489
    dgv64n50CNV Loss21212237
    nsv512691CNV Loss21212237

    Human Gene Mutation Database (HGMD): DIAPH2
    Locus Specific Mutation Databases (LSDB): DIAPH2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DIAPH2
    DNA2.0 Custom Variant and Variant Library Synthesis for DIAPH2

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 300108   
    OMIM disorders: 300511  
    UniProtKB/Swiss-Prot: DIAP2_HUMAN, O60879
  • Premature ovarian failure 2A (POF2A) [MIM:300511]: An ovarian disorder defined as the cessation of
    ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence
    of elevated levels of serum gonadotropins and low estradiol. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 10 diseases for DIAPH2:    
    About MalaCards
    premature ovarian failure 2a    premature ovarian failure    amenorrhea    nonsyndromic deafness
    age related macular degeneration    chondrosarcoma    multiple myeloma    prostatitis
    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for DIAPH2:
    Premature ovarian failure     Chondrosarcoma

    DIAPH2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DIAPH2
    Human Genome Epidemiology (HuGE) Navigator: DIAPH2 (2 documents)

    Export disorders for DIAPH2 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

    TryGeneCards Plus

    PubMed articles for DIAPH2 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with DIAPH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. (PubMed id 9497258)1, 2, 9 Bione S....Toniolo D. (Am. J. Hum. Genet. 1998)
    2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. RhoD regulates endosome dynamics through diaphanous-related formin and Src tyrosine kinase. (PubMed id 12577064)1, 2 Gasman S.... Zerial M. (Nat. Cell Biol. 2003)
    5. Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling. (PubMed id 23620398)1 Sun H....Pollak M.R. (J. Am. Soc. Nephrol. 2013)
    6. Hect E3 ubiquitin ligase Tom1 controls Dia2 degradation during the cell cycle. (PubMed id 22933573)1 Kim D.H. and Koepp D.M. (Mol. Biol. Cell 2012)
    7. Mobilization of HIV spread by diaphanous 2 dependent filopodia in infected dendritic cells. (PubMed id 22685410)1 Aggarwal A....Turville S.G. (PLoS Pathog. 2012)
    8. Dia-interacting protein (DIP) imposes migratory plasticity in mDia2-dependent tumor cells in three-dimensional matrices. (PubMed id 23024796)1 Wyse M.M....Eisenmann K.M. (PLoS ONE 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 1730 HGNC: 2877 AceView: DIAPH2.1 Ensembl:ENSG00000147202 euGenes: HUgn1730
    ECgene: DIAPH2 Kegg: 1730 H-InvDB: DIAPH2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DIAPH2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DIAPH2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for DIAPH2 gene:
    Search GeneIP for patents involving DIAPH2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for DIAPH2 (DIAPH-2)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for DIAPH2   OriGene RNAi products in human, mouse, rat for DIAPH2  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for DIAPH2  
     OriGene qSTAR qPCR primer pairs in human, mouse for DIAPH2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for DIAPH2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DIAPH2   OriGene Custom Protein Services for DIAPH2  

     
     
     Block miRNA regulation of human, mouse, rat DIAPH2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DIAPH2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIAPH2 Predesigned siRNA for gene silencing in human, mouse, rat DIAPH2
     QuantiFast Probe-based Assays in human, mouse, rat DIAPH2 QuantiTect SYBR Green Assays in human, mouse, rat DIAPH2
     PCR Arrays including human, mouse, rat DIAPH2 Search Chromatin IP Primers for DIAPH2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIAPH2  Search GeneGlobe Interaction Network for DIAPH2
     Regulatory tfbs in DIAPH2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DIAPH2 GenScript cDNA clones with any tag delivered in your preferred vector for DIAPH2
     GenScript Custom Assay Services for DIAPH2 GenScript Custom overexpressing Cell Line Services for DIAPH2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for DIAPH2 
    (diaphanous 2)

     Search Tocris compounds for DIAPH2 (DIAP2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DIAPH2 antibodies
     Antibodies for DIAPH2
     See all of Abcam's Antibodies, Kits and Proteins for DIAPH2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DIAPH2
     Antibodies for DIAPH2
     ELISAs for DIAPH2
     CLIAs for DIAPH2



     Browse ESI BIO Cell Lines and PureStem Progenitors for DIAPH2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for DIAPH2
     SwitchGear Promoter luciferase reporter plasmids for DIAPH2
     ThermoFisher Antibody for DIAPH2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIAPH2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DIAPH2
     LSBio Antibodies in human, mouse, rat for DIAPH2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DIAPH2 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4