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Aliases for DIAPH2 Gene

Aliases for DIAPH2 Gene

  • Diaphanous Related Formin 2 2 3 5
  • DRF2 3 4
  • DIA 3 4
  • Diaphanous (Drosophila, Homolog) 2 2
  • Diaphanous Homolog 2 (Drosophila) 2
  • Protein Diaphanous Homolog 2 3
  • Diaphanous-Related Formin-2 4
  • Diaphanous Homolog 2 3
  • Diaphorase-2 3
  • POF2A 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 2A and Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1. Among its related pathways are Cytoskeletal Signaling and Signaling by Rho GTPases. GO annotations related to this gene include binding and actin binding. An important paralog of this gene is DIAPH3.

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

Additional gene information for DIAPH2 Gene

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

Genomics for DIAPH2 Gene

Regulatory Elements for DIAPH2 Gene

Enhancers for DIAPH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH096683 1.3 FANTOM5 ENCODE 10.7 +0.8 820 3 TBP PKNOX1 ARID4B SIN3A RAD21 YY1 SCRT2 RCOR1 RUNX3 IKZF2 DIAPH2 GC0XM096702 ENSG00000207426
GH0XH096538 0.5 ENCODE 6.6 -146.0 -145980 1 SMARCE1 FOS DPF2 DIAPH2 GC0XP096576 LOC105373296
GH0XH096564 0.5 FANTOM5 4.4 -119.9 -119878 0 JUN DIAPH2 GC0XP096576 LOC105373296
GH0XH096539 0.2 ENCODE 9.2 -145.1 -145130 0 DIAPH2 GC0XP096576 LOC105373296
GH0XH096841 0.2 ENCODE 5.1 +157.8 157788 2 DIAPH2 GC0XP096858 GC0XP096776
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DIAPH2 on UCSC Golden Path with GeneCards custom track

Promoters for DIAPH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247520 938 3200 TBP PKNOX1 ARID4B SIN3A RAD21 YY1 SCRT2 RCOR1 RUNX3 IKZF2

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

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 & Families for DIAPH2 Gene

Gene Families for DIAPH2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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).
Family:
  • Belongs to the formin homology family. Diaphanous subfamily.
genes like me logo Genes that share domains with DIAPH2: view

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:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with DIAPH2: view
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIAPH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIAPH2 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 5
endoplasmic reticulum 4
mitochondrion 3
cytoskeleton 2
golgi apparatus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Endoplasmic reticulum (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DIAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005783 endoplasmic reticulum IDA --
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

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 IEA --
GO:0007275 multicellular organism development IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIAPH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DIAPH2 Gene



Protein tissue co-expression partners for DIAPH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DIAPH2 Gene:

DIAPH2

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIAPH2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
Organs:
Head and neck:
  • brain
  • head
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • uterus
  • vagina
  • vulva
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with DIAPH2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Evidence on tissue expression from 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 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia DIAPH2 33 34
  • 90.95 (n)
oppossum
(Monodelphis domestica)
Mammalia DIAPH2 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diap2 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIAPH1 33 34
  • 75.77 (n)
lizard
(Anolis carolinensis)
Reptilia DIAPH2 34
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii DIAPH2 (2 of 2) 34
  • 74 (a)
OneToMany
diaph2 33 34
  • 65.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta dia 35 34
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea cyk-1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for DIAPH2 was found in the sources mined by GeneCards:
  • 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
rs1000001912 -- 97,465,302(+) TTATG(C/T)GTTTA intron-variant
rs1000005402 -- 97,418,009(+) ACTGA(C/T)TCCTG intron-variant
rs1000009095 -- 97,344,399(+) AGCAA(G/T)ATCCT intron-variant
rs1000010293 -- 97,014,226(+) GATGG(C/T)GATCA intron-variant
rs1000012523 -- 97,277,372(+) AAGAC(A/G)CTGCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2346e212 CNV loss 25503493
dgv520n21 CNV gain 19592680
dgv64n50 CNV loss 21212237
esv1383687 OTHER inversion 17803354
esv2675434 CNV deletion 23128226
esv27347 CNV loss 19812545
esv2740343 CNV deletion 23290073
esv2740344 CNV deletion 23290073
esv2740345 CNV deletion 23290073
esv2740346 CNV deletion 23290073
esv32603 CNV loss 17666407
esv3559131 CNV deletion 23714750
esv3559132 CNV deletion 23714750
esv3559136 CNV deletion 23714750
esv3574241 CNV loss 25503493
esv3574244 CNV loss 25503493
esv3574246 CNV loss 25503493
esv3574247 CNV loss 25503493
esv3576984 CNV gain 25503493
esv3576985 CNV gain 25503493
esv3576986 CNV gain 25503493
nsv1132246 CNV deletion 24896259
nsv1139412 CNV deletion 24896259
nsv1141693 CNV duplication 24896259
nsv1149829 CNV duplication 26484159
nsv1152500 CNV duplication 26484159
nsv477879 CNV novel sequence insertion 20440878
nsv507985 OTHER sequence alteration 20534489
nsv507986 OTHER sequence alteration 20534489
nsv510549 OTHER sequence alteration 20534489
nsv511658 CNV loss 21212237
nsv512691 CNV loss 21212237
nsv7000 CNV insertion 18451855
nsv818033 CNV gain 17921354
nsv957787 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
DIAPH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIAPH2

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

Disorders for DIAPH2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
premature ovarian failure 2a
  • pof2a
blepharophimosis, epicanthus inversus, and ptosis, type 1
  • blepharophimosis, epicanthus inversus, and ptosis, type 2
premature ovarian failure 1
  • premature ovarian failure
nonsyndromic deafness
  • nonsyndromic hearing loss
- 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 (American journal of human genetics 1998) 3 4 22 60
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 45 60
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60
  4. RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase. (PMID: 12577064) Gasman S … Zerial M (Nature cell biology 2003) 3 4 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for DIAPH2 Gene

Sources for DIAPH2 Gene

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