Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

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

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

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, and amenorrhea, and among its related super-pathways are 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: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DIAPH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Isoform 3: Cytoplasm, cytosol. Early endosome. Note=Isoform 3 is cytosolic but when
coexpressed with RHOD, the 2 proteins colocalize to early endosomes
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60879

  • DIAPH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DIAPH2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_006720.1  NP_009293.1  

    ENSEMBL proteins: 
     ENSP00000362140   ENSP00000321348   ENSP00000362152   ENSP00000362145   ENSP00000348082  

    Human Recombinant Protein Products for DIAPH2: 
    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 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

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

    DIAPH2 for ontologies           About GeneDecksing



    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)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DIAPH2
    GenScript Custom Superior Antibodies 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 

    Assay Products for DIAPH2: 
    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
    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 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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for DIAPH2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIAPH2
    8/40 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DIAPH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIAPH2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DIAPH2
    Sirion Biotech Customized adenovirus for overexpression of DIAPH2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for DIAPH2 (see all 9)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of DIAPH2 
                         Customized lentivirus expression plasmids for stable overexpression of DIAPH2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DIAPH2
    Search LifeMap BioReagents cell lines for DIAPH2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH2


    (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 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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIAPH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for DIAPH2 (O608792, 3 ENSP000003213484) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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): 5/8 biological process terms (GO ID links to tree view) (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 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 DIAPH2 (DIAP2)

    1 HMDB Compound for DIAPH2    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 DIAPH2 / DIAP2

    (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 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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIAPH2
    8/40 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DIAPH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIAPH2
    Clone
    Products:
         
    OriGene clones in human, mouse for DIAPH2 (see all 9)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of DIAPH2 
                         Customized lentivirus expression plasmids for stable overexpression of DIAPH2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DIAPH2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIAPH2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIAPH2
      QIAGEN 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 

    24/57 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™, 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

    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


    See DIAPH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIAPH2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including DIAPH2: 
              Embryonic Stem Cells in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DIAPH2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIAPH2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIAPH2
    QIAGEN 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

    This gene was present in the common ancestor of animals.

    Orthologs for DIAPH2 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 Diap21 , 5 diaphanous homolog 2 (Drosophila)1, 5 85.53(n)1
    85.37(a)1
      X (52.36 cM)5
    540041  NM_172493.21  NP_766081.11 
     1297497425 
    chicken
    (Gallus gallus)
    Aves DIAPH16
    protein diaphanous homolog 1
    62(a)
    1 ↔ 1
    4(5889627-5934997)
    lizard
    (Anolis carolinensis)
    Reptilia DIAPH26
    Uncharacterized protein
    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) 68.66(n)
    75.72(a)
      556029  XM_678721.5  XP_683813.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta dia1 , 3 actin filament-based process actin
    binding3
    diaphanous1
    41(a)3
    49.95(n)1
    42.54(a)1
      353401  NM_165341.21  NP_724285.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cyk-11 Protein CYK-1 45.03(n)
    30.52(a)
      175983  NM_171180.2  NP_741210.2 


    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
    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) 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

    10/11867 SNPs in DIAPH2 are shown (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) 10/17 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 7 diseases for DIAPH2:    About MalaCards
    premature ovarian failure    amenorrhea    nonsyndromic deafness    age related macular degeneration
    macular degeneration    chondrosarcoma    prostatitis

    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

    PubMed articles for DIAPH2 gene, integrated from 9 sources (see all 37):
    (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. (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. (2010)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    4. RhoD regulates endosome dynamics through diaphanous-related formin and Src tyrosine kinase. (PubMed id 12577064)1, 2 Gasman S.... Zerial M. (2003)
    5. Inverted formin 2 regulates actin dynamics by antagoni zing Rho/diaphanous-related formin signaling. (PubMed id 23620398)1 Sun H....Pollak M.R. (2013)
    6. Hect E3 ubiquitin ligase Tom1 controls Dia2 degradatio n during the cell cycle. (PubMed id 22933573)1 Kim D.H. and Koepp D.M. (2012)
    7. Mobilization of HIV spread by diaphanous 2 dependent f ilopodia in infected dendritic cells. (PubMed id 22685410)1 Aggarwal A....Turville S.G. (2012)
    8. Dia-interacting protein (DIP) imposes migratory plasti city in mDia2-dependent tumor cells in three-dimensional matrices. (PubMed id 23024796)1 Wyse M.M....Eisenmann K.M. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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

    (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 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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for DIAPH2 (DIAPH-2)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   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  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DIAPH2
     QIAGEN SeqTarget long-range PCR primers for resequencing DIAPH2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIAPH2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIAPH2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIAPH2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIAPH2
     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 Superior Antibodies 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)

     Regulatory tfbs in DIAPH2 promoter
     Search Chromatin IP Primers for DIAPH2
     RT2 qPCR Primer Assay in human, mouse, rat DIAPH2
     Search GNC Networks for DIAPH2
     SABiosciences PCR Arrays including human, mouse, rat DIAPH2
     Search Tocris compounds for DIAPH2 (DIAP2)
     Browse Sino Biological Proteins and Antibodies
     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
     Search LifeMap BioReagents cell lines 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 - Custom generated mouse model solutions for DIAPH2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DIAPH2
    Customized:
     lentivirus for stable overexpression of DIAPH2
     lentivirus expression plasmids for stable overexpression of DIAPH2
     adenovirus for overexpression of 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
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4