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Aliases for DFNA5 Gene

Aliases for DFNA5 Gene

  • DFNA5, Deafness Associated Tumor Suppressor 2 3
  • Deafness, Autosomal Dominant 5 2 3 5
  • Inversely Correlated With Estrogen Receptor Expression 1 3 4
  • ICERE-1 3 4
  • 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

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

ENSRs around DFNA5 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for DFNA5 Gene

Chromosome:
7
Start:
24,698,353 bp from pter
End:
24,758,113 bp from pter
Size:
59,761 bases
Orientation:
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:
    O60443-DFNA5_HUMAN
    Recommended name:
    Non-syndromic hearing impairment protein 5
    Protein Accession:
    O60443
    Secondary Accessions:
    • A4D156
    • B2RAX9
    • B3KT05
    • O14590
    • Q08AQ8
    • Q9UBV3

    Protein attributes for DFNA5 Gene

    Size:
    496 amino acids
    Molecular mass:
    54555 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for DFNA5 Gene

Proteomics data for DFNA5 Gene at MOPED

Post-translational modifications for DFNA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for DFNA5 Gene

Domains & Families for DFNA5 Gene

Protein Domains for DFNA5 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60443

UniProtKB/Swiss-Prot:

DFNA5_HUMAN :
  • Belongs to the gasdermin family.
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

miRNA for DFNA5 Gene

miRTarBase miRNAs that target DFNA5

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

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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: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:

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: - - - - - -
SP8:
SP9:
SP10:

Relevant External Links for DFNA5 Gene

GeneLoc Exon Structure for
DFNA5
ECgene alternative splicing isoforms for
DFNA5

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, MOPED, and MaxQB for DFNA5 Gene



SOURCE GeneReport for Unigene cluster for DFNA5 Gene Hs.520708

mRNA Expression by UniProt/SwissProt for DFNA5 Gene

O60443-DFNA5_HUMAN
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

Protein tissue co-expression partners for DFNA5 Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia DFNA5 35
  • 98.92 (n)
  • 98.79 (a)
DFNA5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DFNA5 36
  • 77 (a)
OneToOne
DFNA5 35
  • 82.56 (n)
  • 77.69 (a)
dog
(Canis familiaris)
Mammalia DFNA5 35
  • 83.54 (n)
  • 79.96 (a)
DFNA5 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dfna5 16
Dfna5 35
  • 77.24 (n)
  • 72.32 (a)
Dfna5 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DFNA5 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DFNA5 36
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dfna5 35
  • 74.81 (n)
  • 69.4 (a)
chicken
(Gallus gallus)
Aves DFNA5 35
  • 59.85 (n)
  • 52.97 (a)
DFNA5 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DFNA5 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dfna5 35
  • 53.56 (n)
  • 44.4 (a)
zebrafish
(Danio rerio)
Actinopterygii dfna5 36
  • 33 (a)
OneToMany
DFNA5 (2 of 2) 36
  • 24 (a)
OneToMany
dfna5 35
  • 48.21 (n)
  • 37.34 (a)
Species with no ortholog for DFNA5:
  • 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

ENSEMBL:
Gene Tree for DFNA5 (if available)
TreeFam:
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
rs754553 -- 24,719,233(-) CATCC(A/C/G)TTTTT intron-variant
rs876305 -- 24,719,176(-) CTGGA(A/G)GGAAG reference, synonymous-codon, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv527599 CNV Gain 19592680
nsv520276 CNV Gain 19592680
nsv525284 CNV Loss 19592680
nsv507379 CNV Insertion 20534489

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

HapMap Linkage Disequilibrium report
DFNA5
Human Gene Mutation Database (HGMD)
DFNA5

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

Disorders for DFNA5 Gene

MalaCards: The human disease database

(8) 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
deafness, autosomal recessive 76
  • deafness, autosomal recessive, 76
deafness, autosomal recessive 93
  • deafness, autosomal recessive, 93
- elite association - COSMIC cancer census association via MalaCards
Search DFNA5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DFNA5_HUMAN
  • 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)
DFNA5
Human Genome Epidemiology (HuGE) Navigator
DFNA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DFNA5
genes like me logo Genes that share disorders with DFNA5: view

Publications for DFNA5 Gene

  1. 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 23
  2. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. (PMID: 14676472) Bischoff A.M. … Kremer H. (Audiol. Neurootol. 2004) 3 23
  3. A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. (PMID: 14559215) Yu C. … Kong X. (Genomics 2003) 3 23
  4. A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. (PMID: 12853124) Gregan J. … Kearsey S.E. (Biochim. Biophys. Acta 2003) 3 23
  5. Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea. (PMID: 9450185) Van Laer L. … Willems P. (Eur. J. Hum. Genet. 1997) 2 3

Products for DFNA5 Gene

Sources for DFNA5 Gene

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