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

Gene ID: 1730, updated on 7-Apr-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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Location:
Xq21.33
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (96684842..97604997)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (95124162..96044467)
105.20220307 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
  • 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. DIAPH2 alterations increase cellular motility and may contribute to the metastatic potential of laryngeal squamous cell carcinoma. Kostrzewska-Poczekaj M, et al. Carcinogenesis, 2019 Oct 16. PMID 30793164
  2. Association between early embryo morphokinetics plus cumulus cell gene expression and assisted reproduction outcomes in polycystic ovary syndrome women. Tabibnejad N, et al. Reprod Biomed Online, 2019 Feb. PMID 30593440
  3. 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
  4. 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
  5. 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

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
    Title: DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
  2. 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.
  3. 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.
  4. 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).
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Long HIV filopodial formation in infected dendritic cells was dependent on the formin diaphanous 2 (Diaph2)
    Title: Mobilization of HIV spread by diaphanous 2 dependent filopodia in infected dendritic cells.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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
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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_2023_10

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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