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

    Gene ID: 1730, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:2877
    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
    mouse all
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    Genomic context

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    See DIAPH2 in Genome Data Viewer
    Location:
    Xq21.33
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (96684842..97604997)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (95124162..96044467)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (95939841..96859996)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985714 Neighboring gene uncharacterized LOC105373296 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:95939629-95940344 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:95940345-95941058 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:95985965-95986513 Neighboring gene SKP2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29796 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:96070683-96071183 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:96070182-96070682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29798 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:96282448-96283050 Neighboring gene NADH:ubiquinone oxidoreductase subunit B5 pseudogene 2 Neighboring gene replication protein A4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:96374110-96375309 Neighboring gene uncharacterized LOC124905287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96455541-96456245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96454836-96455540 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:96506917-96507740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96544328-96544889 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96544890-96545450 Neighboring gene NANOG hESC enhancer GRCh37_chrX:96596543-96597044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29799 Neighboring gene RNA, 7SL, cytoplasmic 74, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:96737386-96738055 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:96759203-96760072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29800 Neighboring gene DIAPH2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96838258-96838906 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96838907-96839554 Neighboring gene NANOG hESC enhancer GRCh37_chrX:96852041-96852542 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:96871608-96872807 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96894224-96894852 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:96894853-96895479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:97058194-97058694 Neighboring gene NCKAP1 pseudogene 1 Neighboring gene endogenous retrovirus group FC1 Env polyprotein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. Philippe C, et al. Genomics, 1993 Jul. PMID 8406446
    2. Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration. Jiang R, et al. Eur J Hum Genet, 2011 Jul. PMID 21386871, Free PMC Article
    3. Mobilization of HIV spread by diaphanous 2 dependent filopodia in infected dendritic cells. Aggarwal A, et al. PLoS Pathog, 2012. PMID 22685410, Free PMC Article
    4. DIAPH2 gene polymorphisms and laryngeal cancer risk in men. Cichocka E, et al. J Cancer Res Clin Oncol, 2024 Jun 7. PMID 38844723, Free PMC Article
    5. Carcinoma associated fibroblasts (CAFs) promote breast cancer motility by suppressing mammalian Diaphanous-related formin-2 (mDia2). Dvorak KM, et al. PLoS One, 2018. PMID 29596520, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DIAPH2 gene polymorphisms and laryngeal cancer risk in men.
      Title: DIAPH2 gene polymorphisms and laryngeal cancer risk in men.
    2. DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
      Title: DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
    3. Low DIAPH2 expression is associated with metastasis of laryngeal squamous cell carcinoma.
      Title: DIAPH2 alterations increase cellular motility and may contribute to the metastatic potential of laryngeal squamous cell carcinoma.
    4. DIAPH2 gene expression was an independent prognostic factors of clinical pregnancy rate and live birth in ICSI pregnancies.
      Title: Association between early embryo morphokinetics plus cumulus cell gene expression and assisted reproduction outcomes in polycystic ovary syndrome women.
    5. Low DIA2 expression is associated with breast cancer.
      Title: Carcinoma associated fibroblasts (CAFs) promote breast cancer motility by suppressing mammalian Diaphanous-related formin-2 (mDia2).
    6. Data show that diaphanous related formin 1 protein (Dia1) and diaphanous related formin 2 protein (Dia2) facilitated HIV-1-induced microtubule (MT) stabilization and the intracellular motility of virus particles.
      Title: Distinct functions of diaphanous-related formins regulate HIV-1 uncoating and transport.
    7. Dia1, Dia2, and Dia3 are involved in ErbB2-dependent capture of microtubules at the cell leading edge and ErbB2-driven guided migration.
      Title: Essential and nonredundant roles for Diaphanous formins in cortical microtubule capture and directed cell migration.
    8. DIAPH2 has been associated with premature ovarian insufficiency, an aging phenotype in humans.
      Title: Identification of genes promoting skin youthfulness by genome-wide association study.
    9. In podocytes, INF2 appears to be an important modulator of actin-dependent behaviors that are under the control of Rho/mDia signaling.
      Title: Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.
    10. Dia2 and DIP co-tether to nascent blebs and this linkage is required for bleb formation.
      Title: Dia-interacting protein (DIP) imposes migratory plasticity in mDia2-dependent tumor cells in three-dimensional matrices.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Premature ovarian failure 2A
    MedGen: C1845293 OMIM: 300511 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: RPA4

    Homology

    Clone Names

    • FLJ11167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in female gamete generation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in oogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein diaphanous homolog 2
    Names
    Premature ovarian failure 2A
    diaphanous homolog 2
    diaphorase-2

    NCBI Reference Sequences (RefSeq)

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    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_008433.3 RefSeqGene

      Range
      5002..925157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006729.5 → NP_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)
      AL391821, DB062196, U69179, Y15909
      Consensus CDS
      CCDS14467.1
      UniProtKB/Swiss-Prot
      A6NG19, O60878, O60879, Q8WX06, Q8WX48, Q9UJL2
      UniProtKB/TrEMBL
      A8K5F7
      Related
      ENSP00000321348.8, ENST00000324765.13
      Conserved Domains (3) summary
      pfam02181
      Location:628 → 1002
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:292 → 480
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:101 → 284
      Drf_GBD; Diaphanous GTPase-binding Domain

    2. NM_007309.4 → NP_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, Y15909
      Consensus CDS
      CCDS14468.1
      UniProtKB/TrEMBL
      A8K5F7
      Related
      ENSP00000362140.4, ENST00000373049.8
      Conserved Domains (3) summary
      pfam02181
      Location:628 → 1002
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:292 → 480
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:101 → 284
      Drf_GBD; Diaphanous GTPase-binding Domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      96684842..97604997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      95124162..96044467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60879.1 GenPept UniProtKB/Swiss-Prot:O60879

    Gene LinkOut

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