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Aliases for DIAPH3 Gene

Aliases for DIAPH3 Gene

  • Diaphanous-Related Formin 3 2 3
  • DRF3 3 4 6
  • Diaphanous-Related Formin-3 3 4
  • Diap3 3 4
  • MDia2 3 4
  • NSDAN 3 6
  • AUNA1 3 6
  • DIA2 3 6
  • Auditory Neuropathy, Autosomal Dominant 1 2
  • Diaphanous (Drosophila, Homolog) 3 2
  • Diaphanous Homolog 3 (Drosophila) 2
  • Protein Diaphanous Homolog 3 3
  • Diaphanous Homolog 3 3
  • AN 3

External Ids for DIAPH3 Gene

Previous HGNC Symbols for DIAPH3 Gene

  • AUNA1

Previous GeneCards Identifiers for DIAPH3 Gene

  • GC13M058315
  • GC13M054343
  • GC13M059179
  • GC13M058146
  • GC13M059246
  • GC13M060239
  • GC13M040931

Summaries for DIAPH3 Gene

Entrez Gene Summary for DIAPH3 Gene

  • This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for DIAPH3 Gene

DIAPH3 (Diaphanous-Related Formin 3) is a Protein Coding gene. Diseases associated with DIAPH3 include auditory neuropathy, autosomal dominant, 1 and auditory neuropathy. Among its related pathways are Regulation of actin cytoskeleton and ERK 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 DIAPH3 Gene

  • Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIAPH3 Gene

Genomics for DIAPH3 Gene

Regulatory Elements for DIAPH3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DIAPH3 Gene

Start:
59,665,583 bp from pter
End:
60,163,987 bp from pter
Size:
498,405 bases
Orientation:
Minus strand

Genomic View for DIAPH3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DIAPH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIAPH3 Gene

Proteins for DIAPH3 Gene

  • Protein details for DIAPH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSV4-DIAP3_HUMAN
    Recommended name:
    Protein diaphanous homolog 3
    Protein Accession:
    Q9NSV4
    Secondary Accessions:
    • A2A3B8
    • A2A3B9
    • A2A3C0
    • Q18P99
    • Q18PA0
    • Q18PA1
    • Q2KPB6
    • Q3ZK23
    • Q5JTP8
    • Q5T2S7
    • Q5XKF6
    • Q6MZF0
    • Q6NUP0
    • Q86VS4
    • Q8NAV4

    Protein attributes for DIAPH3 Gene

    Size:
    1193 amino acids
    Molecular mass:
    136926 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAW73254.1; Type=Frameshift; Positions=1147; Evidence={ECO:0000305};

    Alternative splice isoforms for DIAPH3 Gene

neXtProt entry for DIAPH3 Gene

Proteomics data for DIAPH3 Gene at MOPED

Post-translational modifications for DIAPH3 Gene

  • Ubiquitination at Lys139
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DIAPH3 Gene

Domains for DIAPH3 Gene

Suggested Antigen Peptide Sequences for DIAPH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NSV4

UniProtKB/Swiss-Prot:

DIAP3_HUMAN :
  • Q9NSV4
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 DIAPH3: view

No data available for Gene Families for DIAPH3 Gene

Function for DIAPH3 Gene

Molecular function for DIAPH3 Gene

GENATLAS Biochemistry: Drosophila diaphanous gene 3,with four alternatively spliced isoforms,involved in ovarian follicle formation and in spermatogenesis
UniProtKB/Swiss-Prot Function: Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity).

Gene Ontology (GO) - Molecular Function for DIAPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005488 binding --
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with DIAPH3: view

Phenotypes for DIAPH3 Gene

GenomeRNAi human phenotypes for DIAPH3:
genes like me logo Genes that share phenotypes with DIAPH3: view

Animal Model Products

CRISPR Products

miRNA for DIAPH3 Gene

miRTarBase miRNAs that target DIAPH3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DIAPH3 Gene

Localization for DIAPH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIAPH3 Gene

Cytoplasm, cytosol. Note=During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIAPH3 Gene COMPARTMENTS Subcellular localization image for DIAPH3 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for DIAPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DIAPH3: view

Pathways for DIAPH3 Gene

genes like me logo Genes that share pathways with DIAPH3: view

Pathways by source for DIAPH3 Gene

2 Qiagen pathways for DIAPH3 Gene
2 BioSystems pathways for DIAPH3 Gene
1 KEGG pathway for DIAPH3 Gene
1 GeneGo (Thomson Reuters) pathway for DIAPH3 Gene

Gene Ontology (GO) - Biological Process for DIAPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007283 spermatogenesis IEA --
GO:0016043 cellular component organization --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with DIAPH3: view

Compounds for DIAPH3 Gene

(1) HMDB Compounds for DIAPH3 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with DIAPH3: view

Transcripts for DIAPH3 Gene

Unigene Clusters for DIAPH3 Gene

Diaphanous homolog 3 (Drosophila):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DIAPH3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DIAPH3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DIAPH3 Gene

No ASD Table

Relevant External Links for DIAPH3 Gene

GeneLoc Exon Structure for
DIAPH3
ECgene alternative splicing isoforms for
DIAPH3

Expression for DIAPH3 Gene

mRNA expression in normal human tissues for DIAPH3 Gene

mRNA differential expression in normal tissues according to GTEx for DIAPH3 Gene

This gene is overexpressed in Testis (10.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DIAPH3 Gene

SOURCE GeneReport for Unigene cluster for DIAPH3 Gene Hs.283127

genes like me logo Genes that share expressions with DIAPH3: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DIAPH3 Gene

Orthologs for DIAPH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIAPH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIAPH3 35
  • 99.01 (n)
  • 98.55 (a)
DIAPH3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DIAPH3 35
  • 88.13 (n)
  • 85.78 (a)
DIAPH3 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIAPH3 35
  • 91.22 (n)
  • 90.98 (a)
DIAPH3 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diap3 35
  • 86.34 (n)
  • 84.51 (a)
Diap3 16
Diap3 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIAPH3 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH3 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Diaph3 35
  • 86.31 (n)
  • 84.07 (a)
chicken
(Gallus gallus)
Aves DIAPH3 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIAPH3 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.30055 35
tropical clawed frog
(Silurana tropicalis)
Amphibia diaph3 35
  • 73.16 (n)
  • 71.99 (a)
Str.14824 35
zebrafish
(Danio rerio)
Actinopterygii diaph3 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dia 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cyk-1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for DIAPH3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DIAPH3 Gene

ENSEMBL:
Gene Tree for DIAPH3 (if available)
TreeFam:
Gene Tree for DIAPH3 (if available)

Paralogs for DIAPH3 Gene

Paralogs for DIAPH3 Gene

Selected SIMAP similar genes for DIAPH3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DIAPH3: view

Variants for DIAPH3 Gene

Sequence variations from dbSNP and Humsavar for DIAPH3 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs3106 -- 60,102,078(+) CATTT(C/T)CTGCT intron-variant
rs147067 -- 59,860,067(-) GTTTC(C/T)TTGAA intron-variant
rs170988 -- 59,892,611(-) AGGAC(A/T)TGGAG intron-variant
rs180396 -- 59,863,363(+) TACTA(C/T)TTACT intron-variant
rs182890 -- 59,990,996(+) ACCAT(C/T)GTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIAPH3 Gene

Variant ID Type Subtype PubMed ID
nsv900237 CNV Loss 21882294
esv268647 CNV Insertion 20981092
nsv507704 CNV Insertion 20534489
nsv900238 CNV Loss 21882294
nsv519334 CNV Loss 19592680
esv2664013 CNV Deletion 23128226
esv268908 CNV Insertion 20981092
nsv832622 CNV Gain+Loss 17160897
esv1720162 CNV Insertion 17803354
esv2747485 CNV Deletion 23290073
nsv64137 CNV Loss 16902084
nsv64931 CNV Loss 16902084

Relevant External Links for DIAPH3 Gene

HapMap Linkage Disequilibrium report
DIAPH3
Human Gene Mutation Database (HGMD)
DIAPH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIAPH3 Gene

Disorders for DIAPH3 Gene

(1) OMIM Diseases for DIAPH3 Gene (614567)

UniProtKB/Swiss-Prot

DIAP3_HUMAN
  • Auditory neuropathy, autosomal dominant, 1 (AUNA1) [MIM:609129]: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. {ECO:0000269 PubMed:20624953}. Note=The disease is caused by mutations affecting the gene represented in this entry. A disease-causing mutation in the conserved 5-UTR leads to increased protein expression (PubMed:20624953). {ECO:0000269 PubMed:20624953}.

(1) University of Copenhagen DISEASES for DIAPH3 Gene

Relevant External Links for DIAPH3

Genetic Association Database (GAD)
DIAPH3
genes like me logo Genes that share disorders with DIAPH3: view

Publications for DIAPH3 Gene

  1. Identification and characterization of human DIAPH3 gene in silico. (PMID: 14767582) Katoh M. … Katoh M. (Int. J. Mol. Med. 2004) 2 3 23
  2. Filopodia formation induced by active mDia2/Drf3. (PMID: 18755006) Block J. … Faix J. (J. Microsc. 2008) 3 4 23
  3. Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. (PMID: 20624953) Schoen C.J. … Lesperance M.M. (Proc. Natl. Acad. Sci. U.S.A. 2010) 2 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4

Products for DIAPH3 Gene

Sources for DIAPH3 Gene

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