Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DIAPH2 Gene

Aliases for DIAPH2 Gene

  • Diaphanous-Related Formin 2 2 3
  • DIA 3 4 6
  • Diaphanous-Related Formin-2 3 4
  • POF2 3 6
  • DRF2 3 4
  • Diaphanous (Drosophila, Homolog) 2 2
  • Diaphanous Homolog 2 (Drosophila) 2
  • Protein Diaphanous Homolog 2 3
  • Diaphanous Homolog 2 3
  • Diaphorase-2 3
  • DIA2 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. Among its related pathways are Regulation of actin cytoskeleton and Cytoskeletal Signaling. GO annotations related to this gene include actin binding and Rho GTPase binding. An important paralog of this gene is FMN2.

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

Genomic Location for DIAPH2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

No data available for DME Specific Peptides for DIAPH2 Gene

Domains for DIAPH2 Gene

Suggested Antigen Peptide Sequences for DIAPH2 Gene

Graphical View of Domain Structure for InterPro Entry

O60879

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).
  • 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.

Gene Ontology (GO) - Molecular Function for DIAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005102 receptor binding TAS 9497258
GO:0005488 binding --
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with DIAPH2: view

Phenotypes for DIAPH2 Gene

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

miRNA for DIAPH2 Gene

miRTarBase miRNAs that target DIAPH2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
mitochondrion 4
nucleus 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for DIAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0005768 endosome --
GO:0005769 early endosome IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with DIAPH2: view

Pathways for DIAPH2 Gene

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

Pathways by source for DIAPH2 Gene

1 Cell Signaling Technology pathway for DIAPH2 Gene
1 KEGG pathway 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:0007015 actin filament organization --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007275 multicellular organismal development IEA --
GO:0007292 female gamete generation TAS 9497258
genes like me logo Genes that share ontologies with DIAPH2: view

Compounds for DIAPH2 Gene

(1) HMDB Compounds for DIAPH2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
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

Integrated Proteomics: protein expression 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 expressions with DIAPH2: view

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
chimpanzee
(Pan troglodytes)
Mammalia DIAPH2 35
  • 99.75 (n)
  • 99.63 (a)
DIAPH2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIAPH2 35
  • 90.95 (n)
  • 92.37 (a)
DIAPH2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diap2 16
Diap2 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIAPH2 36
  • 86 (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 36
  • 37 (a)
OneToMany
dia 37
  • 41 (a)
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

Selected 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 MAF
rs20360 -- 96,912,328(+) CTCAG(C/T)TGGGT reference, synonymous-codon
rs20361 -, - 96,939,332(+) TACTT(C/G)TTATC reference, missense
rs20362 -- 96,939,424(+) TGAAT(C/T)GGATA intron-variant
rs20363 -- 96,758,130(+) ATGCC(C/T)ACAGT intron-variant
rs20364 -- 96,758,130(+) TGCCY(C/T)CAGTA 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

Relevant External Links for DIAPH2 Gene

HapMap Linkage Disequilibrium report
DIAPH2
Human Gene Mutation Database (HGMD)
DIAPH2
Locus Specific Mutation Databases (LSDB)
DIAPH2

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

Disorders for DIAPH2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DIAPH2 Gene including...

Search for DIAPH2 Gene in MalaCards »

(1) OMIM Diseases for DIAPH2 Gene (300108)

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.

(2) University of Copenhagen DISEASES for DIAPH2 Gene

Relevant External Links for DIAPH2

Genetic Association Database (GAD)
DIAPH2
Human Genome Epidemiology (HuGE) Navigator
DIAPH2
genes like me logo Genes that share disorders with DIAPH2: view

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
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 48
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  4. RhoD regulates endosome dynamics through diaphanous-related formin and Src tyrosine kinase. (PMID: 12577064) Gasman S. … Zerial M. (Nat. Cell Biol. 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for DIAPH2 Gene

  • antibodies-online peptides for DIAPH2
  • antibodies-online antibodies for DIAPH2
  • antibodies-online kits for DIAPH2

Sources for DIAPH2 Gene

Back to Top

Content