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Aliases for DIAPH2 Gene

Aliases for DIAPH2 Gene

  • Diaphanous Related Formin 2 2 3 5
  • Diaphanous-Related Formin-2 3 4
  • DRF2 3 4
  • DIA 3 4
  • Diaphanous (Drosophila, Homolog) 2 2
  • Diaphanous Homolog 2 (Drosophila) 2
  • Diaphanous-Related Formin 2 3
  • Diaphanous Homolog 2 3
  • Diaphorase-2 3
  • DIA2 3
  • POF2 3
  • POF 3

External Ids for DIAPH2 Gene

Previous GeneCards Identifiers for DIAPH2 Gene

  • GC0XU990041
  • GC0XP093083
  • GC0XP093975
  • GC0XP094711
  • GC0XP095745
  • GC0XP095826
  • GC0XP095939
  • GC0XP085739

Summaries for DIAPH2 Gene

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 auditory neuropathy, autosomal dominant, 1. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include binding and actin binding. An important paralog of this gene is FMNL2.

UniProtKB/Swiss-Prot for DIAPH2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIAPH2 Gene

Genomics for DIAPH2 Gene

Regulatory Elements for DIAPH2 Gene

Promoters for DIAPH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DIAPH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DIAPH2 Gene

Chromosome:
X
Start:
96,684,663 bp from pter
End:
97,604,997 bp from pter
Size:
920,335 bases
Orientation:
Plus strand

Genomic View for DIAPH2 Gene

Genes around DIAPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIAPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIAPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIAPH2 Gene

Proteins for DIAPH2 Gene

  • Protein details for DIAPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60879-DIAP2_HUMAN
    Recommended name:
    Protein diaphanous homolog 2
    Protein Accession:
    O60879
    Secondary Accessions:
    • A6NG19
    • O60878
    • Q8WX06
    • Q8WX48
    • Q9UJL2

    Protein attributes for DIAPH2 Gene

    Size:
    1101 amino acids
    Molecular mass:
    125569 Da
    Quaternary structure:
    • Isoform 3 interacts with RHOD in the GTP-bound form.

    Alternative splice isoforms for DIAPH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIAPH2 Gene

Proteomics data for DIAPH2 Gene at MOPED

Post-translational modifications for DIAPH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DIAPH2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DIAPH2 (Diaphanous-2)

No data available for DME Specific Peptides for DIAPH2 Gene

Domains & Families for DIAPH2 Gene

Suggested Antigen Peptide Sequences for DIAPH2 Gene

Graphical View of Domain Structure for InterPro Entry

O60879

UniProtKB/Swiss-Prot:

DIAP2_HUMAN :
  • 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).
  • Belongs to the formin homology family. Diaphanous subfamily.
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).
  • Contains 1 DAD (diaphanous autoregulatory) domain.
  • Contains 1 FH1 (formin homology 1) domain.
  • Contains 1 FH2 (formin homology 2) domain.
  • Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
Family:
  • Belongs to the formin homology family. Diaphanous subfamily.
genes like me logo Genes that share domains with DIAPH2: view

No data available for Gene Families for DIAPH2 Gene

Function for DIAPH2 Gene

Molecular function for DIAPH2 Gene

GENATLAS Biochemistry:
Drosophila diaphanous homolog 2,in the DFN2 region
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with DIAPH2: view

Human Phenotype Ontology for DIAPH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DIAPH2 Gene

Localization for DIAPH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIAPH2 Gene

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
Jensen Localization Image for DIAPH2 Gene COMPARTMENTS Subcellular localization image for DIAPH2 gene
Compartment Confidence
cytosol 5
endosome 5
golgi apparatus 5
mitochondrion 5
nucleus 5
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DIAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
genes like me logo Genes that share ontologies with DIAPH2: view

Pathways & Interactions for DIAPH2 Gene

genes like me logo Genes that share pathways with DIAPH2: view

Pathways by source for DIAPH2 Gene

Gene Ontology (GO) - Biological Process for DIAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis TAS 9497258
GO:0007292 female gamete generation IEA,TAS 9497258
GO:0016043 cellular component organization IEA --
genes like me logo Genes that share ontologies with DIAPH2: view

No data available for SIGNOR curated interactions for DIAPH2 Gene

Drugs & Compounds for DIAPH2 Gene

(1) Drugs for DIAPH2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DIAPH2: view

Transcripts for DIAPH2 Gene

Unigene Clusters for DIAPH2 Gene

Diaphanous homolog 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DIAPH2 Gene

No ASD Table

Relevant External Links for DIAPH2 Gene

GeneLoc Exon Structure for
DIAPH2
ECgene alternative splicing isoforms for
DIAPH2

Expression for DIAPH2 Gene

mRNA expression in normal human tissues for DIAPH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DIAPH2 Gene

This gene is overexpressed in Monocytes (11.3) and Peripheral blood mononuclear cells (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DIAPH2 Gene



SOURCE GeneReport for Unigene cluster for DIAPH2 Gene Hs.226483

mRNA Expression by UniProt/SwissProt for DIAPH2 Gene

O60879-DIAP2_HUMAN
Tissue specificity: Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.
genes like me logo Genes that share expression patterns with DIAPH2: view

Protein tissue co-expression partners for DIAPH2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DIAPH2 Gene

Orthologs for DIAPH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIAPH2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia DIAPH2 35
  • 90.95 (n)
  • 92.37 (a)
DIAPH2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DIAPH2 35
  • 99.75 (n)
  • 99.63 (a)
DIAPH2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIAPH2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diap2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH2 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIAPH1 35
  • 75.77 (n)
  • 78.07 (a)
DIAPH1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIAPH2 36
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii diaph2 35
  • 65.36 (n)
  • 69.77 (a)
diaph2 36
  • 75 (a)
OneToMany
DIAPH2 (2 of 2) 36
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dia 37
  • 41 (a)
dia 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cyk-1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for DIAPH2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DIAPH2 Gene

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

Paralogs for DIAPH2 Gene

Paralogs for DIAPH2 Gene

(4) SIMAP similar genes for DIAPH2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for DIAPH2 Gene

genes like me logo Genes that share paralogs with DIAPH2: view

Variants for DIAPH2 Gene

Sequence variations from dbSNP and Humsavar for DIAPH2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs20361 -, - 96,939,332(+) TACTT(A/C/G)TTATC reference, missense
rs232360 -- 97,001,518(-) CAGGC(A/G)CTTGC intron-variant
rs232361 -- 97,002,137(-) ATACA(C/T)GGATT intron-variant
rs232362 -- 97,004,608(+) ttttt(C/T)gccat intron-variant
rs232363 -- 97,004,712(+) attag(A/G)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIAPH2 Gene

Variant ID Type Subtype PubMed ID
nsv507985 CNV Insertion 20534489
dgv520n21 CNV Gain 19592680
nsv510549 CNV Loss 20534489
esv1383687 OTHER Inversion 17803354
esv2740343 CNV Deletion 23290073
nsv507986 CNV Insertion 20534489
esv32603 CNV Loss 17666407
esv2675434 CNV Deletion 23128226
nsv511658 CNV Loss 21212237
nsv512691 CNV Loss 21212237
esv27347 CNV Loss 19812545
nsv7000 CNV Insertion 18451855
esv2740344 CNV Deletion 23290073
esv2740345 CNV Deletion 23290073
esv2740346 CNV Deletion 23290073
nsv818033 CNV Gain 17921354
dgv64n50 CNV Loss 21212237

Variation tolerance for DIAPH2 Gene

Residual Variation Intolerance Score: 5.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIAPH2 Gene

HapMap Linkage Disequilibrium report
DIAPH2
Human Gene Mutation Database (HGMD)
DIAPH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIAPH2 Gene

Disorders for DIAPH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DIAPH2 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure
  • premature menopause
auditory neuropathy, autosomal dominant, 1
  • auditory neuropathy, nonsyndromic dominant
blepharophimosis, epicanthus inversus, and ptosis, type 1
  • blepharophimosis, epicanthus inversus, and ptosis, type 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DIAP2_HUMAN
  • 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. {ECO:0000269 PubMed:9497258}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DIAPH2

Genetic Association Database (GAD)
DIAPH2
Human Genome Epidemiology (HuGE) Navigator
DIAPH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIAPH2
genes like me logo Genes that share disorders with DIAPH2: view

No data available for Genatlas for DIAPH2 Gene

Publications for DIAPH2 Gene

  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. (PMID: 9497258) Bione S. … Toniolo D. (Am. J. Hum. Genet. 1998) 3 4 23 67
  2. Identification of genes promoting skin youthfulness by genome-wide association study. (PMID: 24037343) Chang A.L. … Barzilai N. (J. Invest. Dermatol. 2014) 3
  3. Essential and nonredundant roles for Diaphanous formins in cortical microtubule capture and directed cell migration. (PMID: 24403606) Daou P. … Badache A. (Mol. Biol. Cell 2014) 3
  4. Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling. (PMID: 23620398) Sun H. … Pollak M.R. (J. Am. Soc. Nephrol. 2013) 3
  5. Mobilization of HIV spread by diaphanous 2 dependent filopodia in infected dendritic cells. (PMID: 22685410) Aggarwal A. … Turville S.G. (PLoS Pathog. 2012) 3

Products for DIAPH2 Gene

Sources for DIAPH2 Gene

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