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    DIAPH2 diaphanous related formin 2 [ Homo sapiens (human) ]

    Gene ID: 1730, updated on 5-Aug-2018

    Summary

    Official Symbol
    DIAPH2provided by HGNC
    Official Full Name
    diaphanous related formin 2provided by HGNC
    Primary source
    HGNC:HGNC:2877
    See related
    Ensembl:ENSG00000147202 MIM:300108; Vega:OTTHUMG00000022689
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIA; POF; DIA2; DRF2; POF2; POF2A
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 5.5), fat (RPKM 5.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See DIAPH2 in Genome Data Viewer
    Location:
    Xq21.33
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (96684663..97600598)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (95939650..96855597)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985714 Neighboring gene uncharacterized LOC105373296 Neighboring gene S-phase kinase associated protein 2 pseudogene Neighboring gene NADH:ubiquinone oxidoreductase subunit B5 pseudogene 2 Neighboring gene replication protein A4 Neighboring gene RNA, 7SL, cytoplasmic 74, pseudogene Neighboring gene DIAPH2 antisense RNA 1 Neighboring gene endogenous retrovirus group FC1 Env polyprotein Neighboring gene NCK associated protein 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: RPA4

    Homology

    Clone Names

    • FLJ11167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament organization IEA
    Inferred from Electronic Annotation
    more info
     
    female gamete generation TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    oogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein diaphanous homolog 2
    Names
    diaphanous homolog 2
    diaphorase-2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008433.1 RefSeqGene

      Range
      5001..920936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006729.4NP_006720.1  protein diaphanous homolog 2 isoform 156

      See identical proteins and their annotated locations for NP_006720.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (156) represents the longer transcript, and encodes the longer isoform (isoform 156).
      Source sequence(s)
      BX363708, DB062196, U69179, Y15909
      Consensus CDS
      CCDS14467.1
      UniProtKB/Swiss-Prot
      O60879
      Related
      ENSP00000321348.8, OTTHUMP00000024271, ENST00000324765.12, OTTHUMT00000058871
      Conserved Domains (3) summary
      pfam02181
      Location:6281002
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:292480
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:101284
      Drf_GBD; Diaphanous GTPase-binding Domain
    2. NM_007309.3NP_009293.1  protein diaphanous homolog 2 isoform 12C

      See identical proteins and their annotated locations for NP_009293.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12C) differs in the 3' UTR and the 3' coding region, compared to variant 156. The resulting isoform (isoform 12C) contains a distinct C-terminus, compared to isoform 156.
      Source sequence(s)
      AW276516, BX363708, Y15909
      Consensus CDS
      CCDS14468.1
      UniProtKB/Swiss-Prot
      O60879
      Related
      ENSP00000362140.4, OTTHUMP00000024270, ENST00000373049.8, OTTHUMT00000058870
      Conserved Domains (3) summary
      pfam02181
      Location:6281002
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:292480
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:101284
      Drf_GBD; Diaphanous GTPase-binding Domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      96684663..97600598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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