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Aliases for DFNA5 Gene

Aliases for DFNA5 Gene

  • DFNA5, Deafness Associated Tumor Suppressor 2 3 5
  • Inversely Correlated With Estrogen Receptor Expression 1 3 4
  • Deafness, Autosomal Dominant 5 2 3
  • ICERE-1 3 4
  • Non-Syndromic Hearing Impairment Protein 5 3
  • Nonsyndromic Hearing Impairment Protein 3
  • ICERE1 4

External Ids for DFNA5 Gene

Previous GeneCards Identifiers for DFNA5 Gene

  • GC07M024380
  • GC07M024480
  • GC07M024511
  • GC07M024704
  • GC07M024737

Summaries for DFNA5 Gene

Entrez Gene Summary for DFNA5 Gene

  • Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DFNA5 Gene

DFNA5 (DFNA5, Deafness Associated Tumor Suppressor) is a Protein Coding gene. Diseases associated with DFNA5 include Deafness, Autosomal Dominant 5 and Dfna 5 Nonsyndromic Hearing Loss And Deafness. An important paralog of this gene is DFNB59.

UniProtKB/Swiss-Prot for DFNA5 Gene

  • Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53.

Gene Wiki entry for DFNA5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DFNA5 Gene

Genomics for DFNA5 Gene

Regulatory Elements for DFNA5 Gene

Enhancers for DFNA5 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around DFNA5 on UCSC Golden Path with GeneCards custom track

Promoters for DFNA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Transcription factor binding sites by QIAGEN in the DFNA5 gene promoter:

Genomic Location for DFNA5 Gene

24,698,353 bp from pter
24,758,113 bp from pter
59,761 bases
Minus strand

Genomic View for DFNA5 Gene

Genes around DFNA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DFNA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DFNA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DFNA5 Gene

Proteins for DFNA5 Gene

  • Protein details for DFNA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Non-syndromic hearing impairment protein 5
    Protein Accession:
    Secondary Accessions:
    • A4D156
    • B2RAX9
    • B3KT05
    • O14590
    • Q08AQ8
    • Q9UBV3

    Protein attributes for DFNA5 Gene

    496 amino acids
    Molecular mass:
    54555 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAB83938.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC39635.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DFNA5 Gene


neXtProt entry for DFNA5 Gene

Post-translational modifications for DFNA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DFNA5 Gene

Domains & Families for DFNA5 Gene

Protein Domains for DFNA5 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the gasdermin family.
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with DFNA5: view

No data available for Gene Families for DFNA5 Gene

Function for DFNA5 Gene

Molecular function for DFNA5 Gene

GENATLAS Biochemistry:
gene expressed in the cochlea,mutated in neurosensory dominant deafness 3,likely same as ICERE1 (inversely correlated with estrogen receptor expression gene 1)
UniProtKB/Swiss-Prot Function:
Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53.
genes like me logo Genes that share phenotypes with DFNA5: view

Human Phenotype Ontology for DFNA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DFNA5 Gene

MGI Knock Outs for DFNA5:

Animal Model Products

CRISPR Products

miRNA for DFNA5 Gene

miRTarBase miRNAs that target DFNA5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DFNA5 Gene

Localization for DFNA5 Gene

Subcellular locations from

Jensen Localization Image for DFNA5 Gene COMPARTMENTS Subcellular localization image for DFNA5 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DFNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with DFNA5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DFNA5 Gene

Pathways & Interactions for DFNA5 Gene

SuperPathways for DFNA5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DFNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007605 sensory perception of sound TAS 9771715
GO:0008285 negative regulation of cell proliferation IDA 18223688
GO:0060113 inner ear receptor cell differentiation IEA --
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway IDA 21522185
genes like me logo Genes that share ontologies with DFNA5: view

No data available for Pathways by source and SIGNOR curated interactions for DFNA5 Gene

Drugs & Compounds for DFNA5 Gene

No Compound Related Data Available

Transcripts for DFNA5 Gene

Unigene Clusters for DFNA5 Gene

Deafness, autosomal dominant 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DFNA5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - - - - -
SP2: - - -
SP3: - - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - -
SP7: - - - - - -

Relevant External Links for DFNA5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DFNA5 Gene

mRNA expression in normal human tissues for DFNA5 Gene

Protein differential expression in normal tissues from HIPED for DFNA5 Gene

This gene is overexpressed in Bone (25.6) and Testis (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DFNA5 Gene

Protein tissue co-expression partners for DFNA5 Gene

NURSA nuclear receptor signaling pathways regulating expression of DFNA5 Gene:


SOURCE GeneReport for Unigene cluster for DFNA5 Gene:


mRNA Expression by UniProt/SwissProt for DFNA5 Gene:

Tissue specificity: Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
genes like me logo Genes that share expression patterns with DFNA5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DFNA5 Gene

Orthologs for DFNA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DFNA5 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DFNA5 34
  • 82.56 (n)
  • 77.69 (a)
DFNA5 35
  • 77 (a)
(Canis familiaris)
Mammalia DFNA5 34
  • 83.54 (n)
  • 79.96 (a)
DFNA5 35
  • 78 (a)
(Mus musculus)
Mammalia Dfna5 34
  • 77.24 (n)
  • 72.32 (a)
Dfna5 16
Dfna5 35
  • 69 (a)
(Pan troglodytes)
Mammalia DFNA5 34
  • 98.92 (n)
  • 98.79 (a)
DFNA5 35
  • 99 (a)
(Rattus norvegicus)
Mammalia Dfna5 34
  • 74.81 (n)
  • 69.4 (a)
(Monodelphis domestica)
Mammalia DFNA5 35
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia DFNA5 35
  • 43 (a)
(Gallus gallus)
Aves DFNA5 34
  • 59.85 (n)
  • 52.97 (a)
DFNA5 35
  • 50 (a)
(Anolis carolinensis)
Reptilia DFNA5 35
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dfna5 34
  • 53.56 (n)
  • 44.4 (a)
(Danio rerio)
Actinopterygii dfna5 34
  • 48.21 (n)
  • 37.34 (a)
dfna5 35
  • 33 (a)
DFNA5 (2 of 2) 35
  • 24 (a)
Species where no ortholog for DFNA5 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DFNA5 Gene

Gene Tree for DFNA5 (if available)
Gene Tree for DFNA5 (if available)

Paralogs for DFNA5 Gene

Paralogs for DFNA5 Gene

genes like me logo Genes that share paralogs with DFNA5: view

Variants for DFNA5 Gene

Sequence variations from dbSNP and Humsavar for DFNA5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs754554 - 24,719,199(-) GAAAC(A/C/G)CTGTG reference, missense, utr-variant-5-prime
rs12540919 - 24,717,332(+) CACCA(C/T)GTTGG reference, missense
rs876306 - 24,719,102(-) GCACA(C/T)GCAGG reference, missense
rs2158062 -- 24,737,204(+) taatg(A/C)aacaa intron-variant
rs2158063 -- 24,738,252(+) tatta(A/G)agcca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DFNA5 Gene

Variant ID Type Subtype PubMed ID
esv3612588 CNV loss 21293372
esv3891089 CNV loss 25118596
nsv507379 OTHER sequence alteration 20534489
nsv520276 CNV gain 19592680
nsv525284 CNV loss 19592680
nsv527599 CNV gain 19592680
nsv7393 OTHER inversion 18451855

Variation tolerance for DFNA5 Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DFNA5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DFNA5 Gene

Disorders for DFNA5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DFNA5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 5
  • deafness, autosomal dominant, 5
dfna 5 nonsyndromic hearing loss and deafness
  • dfna5 nonsyndromic hearing loss and deafness
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
sensorineural hearing loss
  • central hearing loss
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
  • enlarged vestibular aqueduct, digenic
- elite association - COSMIC cancer census association via MalaCards
Search DFNA5 in MalaCards View complete list of genes associated with diseases


  • Deafness, autosomal dominant, 5 (DFNA5) [MIM:600994]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:9771715}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Is a tumor suppressor gene with an important role in colorectal cancer (CRC). {ECO:0000303 PubMed:18223688}.

Genatlas disease for DFNA5 Gene

neurosensory dominant deafness,5,non syndromic,postlingual,progressive,starting in the high tones

Relevant External Links for DFNA5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DFNA5: view

Publications for DFNA5 Gene

  1. The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways. (PMID: 26236191) Van Rossom S. … Van Camp G. (Front Cell Neurosci 2015) 2 3 65
  2. The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. (PMID: 21522185) Op de Beeck K. … Van Laer L. (Eur. J. Hum. Genet. 2011) 3 4 65
  3. Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. (PMID: 19911014) Park H.J. … Kim U.K. (J. Hum. Genet. 2010) 3 22 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  5. Single nucleotide polymorphisms in Wnt signaling and cell death pathway genes and susceptibility to colorectal cancer. (PMID: 20403915) Frank B. … Brenner H. (Carcinogenesis 2010) 3 46 65

Products for DFNA5 Gene

Sources for DFNA5 Gene

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