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Aliases for DIAPH3 Gene

Aliases for DIAPH3 Gene

  • Diaphanous Related Formin 3 2 3 5
  • Diap3 3 4
  • MDia2 3 4
  • DRF3 3 4
  • Auditory Neuropathy, Autosomal Dominant 1 2
  • Diaphanous (Drosophila, Homolog) 3 2
  • Diaphanous Homolog 3 (Drosophila) 2
  • Protein Diaphanous Homolog 3 3
  • Diaphanous-Related Formin-3 4
  • Diaphanous Homolog 3 3
  • NSDAN 3
  • AUNA1 3
  • DIA2 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 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Regulation of actin cytoskeleton and G-protein signaling_RhoB regulation pathway. GO annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is DIAPH2.

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).

Additional gene information for DIAPH3 Gene

No data available for CIViC summary , 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

Enhancers for DIAPH3 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
GH13H060230 0.8 ENCODE 16.4 -66.6 -66560 1 LEF1 ZBTB21 TAL1 FEZF1 TCF12 NCOR1 RCOR1 NFE2 ATF7 RUNX3 DIAPH3 LINC00434 GC13M060188 RNY4P28
GH13H060395 1.1 ENCODE 10.3 -233.7 -233716 4 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 FOS TDRD3 DIAPH3 GC13M060411
GH13H060161 1.3 Ensembl ENCODE 6.9 +0.1 114 5 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS SP3 CEBPZ TDRD3 DIAPH3 DIAPH3-AS2
GH13H060019 0.8 Ensembl ENCODE 10.5 +144.3 144252 1 ZNF766 FOXA2 CEBPG HNF4A DIAPH3 DIAPH3-AS1 RN7SL375P GC13M060035
GH13H060229 0.7 ENCODE 10.5 -65.8 -65835 0 ZBTB21 TAL1 ZNF398 ZEB2 ATF2 OSR2 GLIS1 IKZF1 BCL6B ZNF629 DIAPH3 LINC00434 GC13M060188 RNY4P28
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DIAPH3 on UCSC Golden Path with GeneCards custom track

Promoters for DIAPH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000063285 187 2001 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS SP3 CEBPZ

Genomic Location for DIAPH3 Gene

Chromosome:
13
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

Genes around DIAPH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIAPH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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};

    Three dimensional structures from OCA and Proteopedia for DIAPH3 Gene

    Alternative splice isoforms for DIAPH3 Gene

neXtProt entry for DIAPH3 Gene

Post-translational modifications for DIAPH3 Gene

No data available for DME Specific Peptides for DIAPH3 Gene

Domains & Families for DIAPH3 Gene

Gene Families for DIAPH3 Gene

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

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 :
  • 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 DIAPH3: view

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).

Phenotypes From GWAS Catalog for DIAPH3 Gene

Gene Ontology (GO) - Molecular Function for DIAPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0017048 Rho GTPase binding IEA --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with DIAPH3: view
genes like me logo Genes that share phenotypes with DIAPH3: view

Human Phenotype Ontology for DIAPH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DIAPH3 Gene

MGI Knock Outs for DIAPH3:

Animal Model Products

CRISPR Products

miRNA for DIAPH3 Gene

miRTarBase miRNAs that target DIAPH3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIAPH3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 DIAPH3 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 3
cytoskeleton 3
mitochondrion 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DIAPH3 Gene

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

Pathways & Interactions for DIAPH3 Gene

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

Pathways by source for DIAPH3 Gene

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

Gene Ontology (GO) - Biological Process for DIAPH3 Gene

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

No data available for SIGNOR curated interactions for DIAPH3 Gene

Drugs & Compounds for DIAPH3 Gene

(2) Drugs for DIAPH3 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor 421
Guanosine triphosphate Experimental Pharma 0
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIAPH3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DIAPH3 Gene

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

This gene is overexpressed in Testis (x10.7).

Protein differential expression in normal tissues from HIPED for DIAPH3 Gene

This gene is overexpressed in Monocytes (46.2), Testis (9.2), and Fetal testis (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DIAPH3 Gene



Protein tissue co-expression partners for DIAPH3 Gene

NURSA nuclear receptor signaling pathways regulating expression of DIAPH3 Gene:

DIAPH3

SOURCE GeneReport for Unigene cluster for DIAPH3 Gene:

Hs.283127

Evidence on tissue expression from TISSUES for DIAPH3 Gene

  • Kidney(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIAPH3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DIAPH3: view

Primer 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 33 34
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia DIAPH3 33 34
  • 91.22 (n)
cow
(Bos Taurus)
Mammalia DIAPH3 33 34
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Diap3 33 34
  • 86.34 (n)
Diaph3 16
rat
(Rattus norvegicus)
Mammalia Diaph3 33
  • 86.31 (n)
oppossum
(Monodelphis domestica)
Mammalia DIAPH3 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH3 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIAPH3 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIAPH3 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia diaph3 33
  • 73.16 (n)
Str.14824 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.30055 33
zebrafish
(Danio rerio)
Actinopterygii diaph3 34
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dia 34
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cyk-1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for DIAPH3 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs546723182 Uncertain significance 59,666,595(+) AGCTC(A/G)TAATC downstream-variant-500B, reference, stop-gained
rs1000016943 -- 59,977,378(+) ACAAA(C/T)TGAAG intron-variant
rs1000018857 -- 60,088,138(+) TTAAA(C/T)TGTCT intron-variant
rs1000022476 -- 60,099,802(+) GTACA(A/G)TACTT intron-variant
rs1000028517 -- 59,698,426(+) AGAAA(A/C)AAAAT intron-variant, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
esv1720162 CNV insertion 17803354
esv2664013 CNV deletion 23128226
esv2747485 CNV deletion 23290073
esv3304630 CNV mobile element insertion 20981092
esv3329106 CNV insertion 20981092
esv3337009 CNV insertion 20981092
esv3379321 CNV insertion 20981092
esv3580685 CNV loss 25503493
esv3632293 CNV loss 21293372
esv3632294 CNV loss 21293372
esv3892362 CNV loss 25118596
esv3892363 CNV gain 25118596
nsv1044002 CNV gain 25217958
nsv1050415 CNV loss 25217958
nsv475446 CNV novel sequence insertion 20440878
nsv507704 OTHER sequence alteration 20534489
nsv519334 CNV loss 19592680
nsv561861 CNV loss 21841781
nsv561862 CNV loss 21841781
nsv64137 CNV deletion 16902084
nsv64931 CNV deletion 16902084
nsv832622 CNV gain+loss 17160897
nsv983742 CNV duplication 23825009

Variation tolerance for DIAPH3 Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.18; 75.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIAPH3 Gene

Human Gene Mutation Database (HGMD)
DIAPH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIAPH3

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

Disorders for DIAPH3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DIAPH3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
auditory neuropathy, autosomal dominant, 1
  • autosomal dominant auditory neuropathy 1
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
auditory neuropathy
  • auditory dys-synchrony
deafness, autosomal recessive 59
  • autosomal recessive nonsyndromic deafness 59
neuropathy
  • peripheral neuropathy
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for DIAPH3

Genetic Association Database (GAD)
DIAPH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIAPH3
genes like me logo Genes that share disorders with DIAPH3: view

No data available for Genatlas for DIAPH3 Gene

Publications for DIAPH3 Gene

  1. Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. (PMID: 20624953) Schoen CJ … Lesperance MM (Proceedings of the National Academy of Sciences of the United States of America 2010) 2 3 4 60
  2. Filopodia formation induced by active mDia2/Drf3. (PMID: 18755006) Block J … Faix J (Journal of microscopy 2008) 3 4 22 60
  3. Identification and characterization of human DIAPH3 gene in silico. (PMID: 14767582) Katoh M … Katoh M (International journal of molecular medicine 2004) 2 3 22 60
  4. Ubiquitin-mediated degradation of the formin mDia2 upon completion of cell division. (PMID: 19457867) DeWard AD … Alberts AS (The Journal of biological chemistry 2009) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for DIAPH3 Gene

Sources for DIAPH3 Gene

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