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] See more...

Aliases for DIAPH3 Gene

Aliases for DIAPH3 Gene

  • Diaphanous Related Formin 3 2 3 5
  • DRF3 2 3 4
  • Protein Diaphanous Homolog 3 3 4
  • NSDAN 2 3
  • MDia2 3 4
  • AN 2 3
  • Auditory Neuropathy, Autosomal Dominant 1 2
  • Diaphanous (Drosophila, Homolog) 3 2
  • Diaphanous Homolog 3 (Drosophila) 2
  • Diaphanous-Related Formin-3 4
  • Diaphanous Homolog 3 3
  • FLJ34705 2
  • DIAPH3 5
  • AUNA1 3
  • Diap3 3
  • DIAP3 4
  • DIA2 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 Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is DIAPH2.

UniProtKB/Swiss-Prot Summary for DIAPH3 Gene

  • Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. 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. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIAPH3 Gene

Genomics for DIAPH3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DIAPH3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J060161 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 256.9 +0.1 136 5.2 SP1 ZNF207 IKZF1 ZNF600 ZNF580 ATF2 POLR2A BRCA1 NFIC YY1 DIAPH3 HSALNG0097494-001 HSALNG0097494-002 LOC105370227 lnc-TDRD3-14 TDRD3 HSALNG0097493 lnc-DIAPH3-7
GH13J060011 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 258 +151.3 151328 1.6 JUND OSR2 FOS DIAPH3 DIAPH3-AS1 piR-37026-152
GH13J060395 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -233.7 -233673 4.8 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 JUND ZNF580 ZMYM3 TDRD3 HSALNG0097501-001 NONHSAG013650.2 lnc-DIAPH3-22 lnc-DIAPH3-23 DIAPH3
GH13J060230 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 16.4 -66.6 -66628 1.3 NCOR1 IKZF1 ATF2 FEZF1 TAL1 STAT5A HDAC2 ZEB2 TCF12 MAFK DIAPH3 lnc-TDRD3-6 RF00994-275 LINC00434 TDRD3
GH13J060227 Enhancer 0.7 Ensembl 11.1 -63.5 -63473 0.8 MAFF ZNF316 NFE2 MAFK NFE2L2 MAFG ZEB2 CTCF DPF2 ARID1B DIAPH3 lnc-TDRD3-6 RF00994-275 LINC00434 TDRD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIAPH3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIAPH3

Top Transcription factor binding sites by QIAGEN in the DIAPH3 gene promoter:
  • FAC1
  • Nkx2-5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU2F1
  • POU2F1a
  • POU3F1

Genomic Locations for DIAPH3 Gene

Latest Assembly
chr13:59,665,583-60,163,928
(GRCh38/hg38)
Size:
498,346 bases
Orientation:
Minus strand

Previous Assembly
chr13:60,239,717-60,738,062
(GRCh37/hg19 by Entrez Gene)
Size:
498,346 bases
Orientation:
Minus strand

chr13:60,239,717-60,738,121
(GRCh37/hg19 by Ensembl)
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; 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

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

Protein Domains for DIAPH3 Gene

InterPro:
Blocks:
  • Actin-binding FH2
  • Pancreatic ribonuclease
  • DRF autoregulatory
  • Diaphanous FH3

Suggested Antigen Peptide Sequences for DIAPH3 Gene

GenScript: Design optimal peptide antigens:
  • Diaphanous-related formin-3 (DIAP3_HUMAN)

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.
  • 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.
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

UniProtKB/Swiss-Prot Function:
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. 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. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity.
GENATLAS Biochemistry:
Drosophila diaphanous gene 3,with four alternatively spliced isoforms,involved in ovarian follicle formation and in spermatogenesis

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 HDA 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:

miRNA for DIAPH3 Gene

miRTarBase miRNAs that target DIAPH3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIAPH3

Clone products for research

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. Nucleus. Note=During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis (PubMed:18755006, PubMed:19457867). Shuttles between the cytoplasm and the nucleus (By similarity). {ECO:0000250 UniProtKB:Q9Z207, ECO:0000269 PubMed:18755006, ECO:0000269 PubMed:19457867}.

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
nucleus 5
cytosol 5
plasma membrane 3
cytoskeleton 3
extracellular 2
mitochondrion 2
endosome 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 ISS --
GO:0005737 cytoplasm ISS --
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 KEGG pathway for DIAPH3 Gene
1 GeneGo (Thomson Reuters) pathway for DIAPH3 Gene
  • G-protein signaling_RhoB regulation pathway
2 Qiagen pathways for DIAPH3 Gene
  • CDC42 Pathway
  • Rho Family GTPases

Gene Ontology (GO) - Biological Process for DIAPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0016043 cellular component organization IEA --
GO:0030036 actin cytoskeleton organization ISS --
GO:0030041 actin filament polymerization ISS --
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 459
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DIAPH3: view

Transcripts for DIAPH3 Gene

mRNA/cDNA for DIAPH3 Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIAPH3

Clone products for research

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

No ASD Table

Relevant External Links for DIAPH3 Gene

GeneLoc Exon Structure for
DIAPH3

Expression for DIAPH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for DIAPH3 Gene



Protein tissue co-expression partners for DIAPH3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIAPH3

SOURCE GeneReport for Unigene cluster for DIAPH3 Gene:

Hs.283127

Evidence on tissue expression from TISSUES for DIAPH3 Gene

  • Kidney(4.5)
  • Skin(2.3)
  • Nervous system(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Regions:
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 for research

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 29 30
  • 99.01 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DIAPH3 29 30
  • 91.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DIAPH3 29 30
  • 88.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Diap3 29 30
  • 86.34 (n)
OneToOne
Diaph3 16
Rat
(Rattus norvegicus)
Mammalia Diaph3 29
  • 86.31 (n)
Oppossum
(Monodelphis domestica)
Mammalia DIAPH3 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH3 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DIAPH3 30
  • 74 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DIAPH3 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia diaph3 29
  • 73.16 (n)
Str.14824 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.30055 29
Zebrafish
(Danio rerio)
Actinopterygii diaph3 30
  • 66 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta dia 30
  • 36 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cyk-1 30
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToMany
Species where no ortholog for DIAPH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DIAPH3: view image
Alliance of Genome Resources:
Additional Orthologs for DIAPH3

Paralogs for DIAPH3 Gene

(4) SIMAP similar genes for DIAPH3 Gene using alignment to 2 proteins:

  • DIAP3_HUMAN
  • C9JDG0_HUMAN
genes like me logo Genes that share paralogs with DIAPH3: view

Variants for DIAPH3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DIAPH3 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
915388 Uncertain Significance: Auditory neuropathy, autosomal dominant, 1 59,991,177(-) G/A
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)
NONSENSE
984530 Pathogenic: Auditory neuropathy, autosomal dominant, 1 59,969,958(-) CA/C
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs)
FRAMESHIFT
989303 Uncertain Significance: Auditory neuropathy, autosomal dominant, 1 60,112,043(-) C/G
NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp)
MISSENSE_VARIANT,INTRON
998193 Pathogenic: Auditory neuropathy, autosomal dominant, 1 60,042,718(-) G/A
NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs1002183897 Uncertain Significance: not provided 60,163,736(-) G/A
NM_001042517.2(DIAPH3):c.31C>T (p.Pro11Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DIAPH3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DIAPH3 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DIAPH3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DIAPH3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- 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 variants affecting the gene represented in this entry. A disease-causing mutation in the conserved 5'-UTR leads to increased protein expression. {ECO:0000269 PubMed:20624953}.

Additional Disease Information for 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 72
  2. Filopodia formation induced by active mDia2/Drf3. (PMID: 18755006) Block J … Faix J (Journal of microscopy 2008) 3 4 22
  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
  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
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DIAPH3 Gene

Sources for DIAPH3 Gene