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DFNA5 Gene

protein-coding   GIFtS: 58
GCID: GC07M024737

Deafness, Autosomal Dominant 5

  See DFNA5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deafness, Autosomal Dominant 51 2
Inversely Correlated With Estrogen Receptor Expression 12 3
ICERE-12 3
Non-Syndromic Hearing Impairment Protein 52
Nonsyndromic Hearing Impairment Protein2
ICERE13

External Ids:    HGNC: 28101   Entrez Gene: 16872   Ensembl: ENSG000001059287   OMIM: 6087985   UniProtKB: O604433   

Export aliases for DFNA5 gene to outside databases

Previous GC identifers: GC07M024380 GC07M024480 GC07M024511 GC07M024704


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (deafness, autosomal dominant 5) is a protein-coding gene. Diseases associated with DFNA5 include dfna 5 nonsyndromic hearing loss and deafness, and deafness, autosomal dominant 5. An important paralog of this gene is DFNB59.

UniProtKB/Swiss-Prot: DFNA5_HUMAN, O60443
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DFNA5 gene promoter:
         S8   CP2   p53   LUN-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): DFNA5 promoter sequence
   Search Chromatin IP Primers for DFNA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DFNA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p15   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p15

DFNA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DFNA5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M024737:  view genomic region     (about GC identifiers)

Start:
24,737,972 bp from pter      End:
24,809,244 bp from pter
Size:
71,273 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 24,789,534-24,849,193     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DFNA5_HUMAN, O60443 (See protein sequence)
Recommended Name: Non-syndromic hearing impairment protein 5  
Size: 496 amino acids; 54555 Da
Sequence caution: Sequence=AAB83938.1; Type=Erroneous gene model prediction; Sequence=AAC39635.2; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: A4D156 B2RAX9 B3KT05 O14590 Q08AQ8 Q9UBV3
Alternative splicing: 3 isoforms:  O60443-1   O60443-2   O60443-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DFNA5: NX_O60443

Explore proteomics data for DFNA5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DFNA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001120925.1  NP_001120926.1  NP_004394.1  

    ENSEMBL proteins: 
     ENSP00000339587   ENSP00000387119   ENSP00000386670   ENSP00000395540   ENSP00000389874  
     ENSP00000398445   ENSP00000414090   ENSP00000413963   ENSP00000401332   ENSP00000442661  

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    Cloud-Clone Corp. Proteins for DFNA5

     
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    antibodies-online proteins for DFNA5 (5 products) 

     
    antibodies-online peptides for DFNA5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007677 Gasdermin

    Graphical View of Domain Structure for InterPro Entry O60443

    ProtoNet protein and cluster: O60443

    1 Blocks protein domain: IPB007677 DFNA5 protein

    UniProtKB/Swiss-Prot: DFNA5_HUMAN, O60443
    Similarity: Belongs to the gasdermin family


    Find genes that share domains with DFNA5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DFNA5_HUMAN, O60443
    Function: Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA
    damage probably by cooperating with TP53

         Genatlas biochemistry entry for DFNA5:
    gene expressed in the cochlea,mutated in neurosensory dominant deafness 3,likely same as ICERE1 (inversely
    correlated with estrogen receptor expression gene 1)

    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dfna5):
     hearing/vestibular/ear  nervous system 

    Find genes that share phenotypes with DFNA5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dfna5tm1Ant for DFNA5

       genOway: Develop your customized and physiologically relevant rodent model for DFNA5

    miRNA
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    miRTarBase miRNAs that target DFNA5:
    hsa-mir-26b-5p (MIRT030292), hsa-mir-1 (MIRT024093)

    Block miRNA regulation of human, mouse, rat DFNA5 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate DFNA5:
    hsa-miR-188-3p hsa-miR-539 hsa-miR-1179
    SwitchGear 3'UTR luciferase reporter plasmidDFNA5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DFNA5

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNA5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNA5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with DFNA5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DFNA5
    Interactions:

        Search GeneGlobe Interaction Network for DFNA5

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for DFNA5 (O604432, 3 ENSP000003395874) via UniProtKB, MINT, STRING, and/or I2D (see all 776)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTNP212462, 3MINT-63175 I2D: score=5 
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    ABCF1Q8NE712MINT-7945693 MINT-7947479
    ABCF3Q9NUQ82MINT-7945693 MINT-7947479
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0007605sensory perception of sound TAS9771715
    GO:0008285negative regulation of cell proliferation IDA18223688
    GO:0060113inner ear receptor cell differentiation IEA--
    GO:2001244positive regulation of intrinsic apoptotic signaling pathway IDA--

    Find genes that share ontologies with DFNA5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DFNA5



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DFNA5 gene (3 alternative transcripts): 
    NM_001127453.1  NM_001127454.1  NM_004403.2  

    Unigene Cluster for DFNA5:

    Deafness, autosomal dominant 5
    Hs.520708  [show with all ESTs]
    Unigene Representative Sequence: AK094714
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342947(uc010kus.1 uc003sxa.1) ENST00000479636 ENST00000409970
    ENST00000409775 ENST00000430096 ENST00000415480 ENST00000446822 ENST00000469133
    ENST00000411476 ENST00000559637 ENST00000493723 ENST00000414428 ENST00000473990
    ENST00000419307(uc010kut.1) ENST00000545231
    miRNA
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    Block miRNA regulation of human, mouse, rat DFNA5 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate DFNA5:
    hsa-miR-188-3p hsa-miR-539 hsa-miR-1179
    SwitchGear 3'UTR luciferase reporter plasmidDFNA5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DFNA5
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    GenScript: all cDNA clones in your preferred vector (see all 3): DFNA5 (NM_001127453)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DFNA5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNA5
    Primer
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    OriGene qPCR primer pairs and template standards for DFNA5
    OriGene qSTAR qPCR primer pairs in human, mouse for DFNA5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DFNA5
      QuantiTect SYBR Green Assays in human, mouse, rat DFNA5
      QuantiFast Probe-based Assays in human, mouse, rat DFNA5

    Additional mRNA sequence: 

    AF007790.2 AF073308.1 AF075171.1 AF131765.1 AJ270686.1 AK094714.1 AK290775.1 AK314402.1 
    BC019689.1 BC099911.1 BC125065.1 BC125066.1 

    18 DOTS entries:

    DT.100779351  DT.95078370  DT.213599  DT.101968548  DT.100779343  DT.92431635  DT.100774085  DT.95193035 
    DT.100779353  DT.121046523  DT.92431651  DT.121046516  DT.121046546  DT.75182197  DT.95078352  DT.100803962 
    DT.91762954  DT.95101917 

    Selected AceView cDNA sequences (see all 182):

    BQ953531 BM708987 CN484767 BM051295 BU902512 CR608176 BU631672 AA132168 
    BG748140 AF073308 AI745270 CA312419 AF131765 AI365522 N20315 CD107188 
    N22722 CB161015 NM_004403 BQ948367 AA256128 AF075171 CR618731 AI478454 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DFNA5 (see all 10)    About this scheme

    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:              -     -     -                                         -     -                                                         


    ECgene alternative splicing isoforms for DFNA5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DFNA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGATTTCCT
    DFNA5 Expression
    About this image


    DFNA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Cerebral Cortex
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DFNA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DFNA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520708

    UniProtKB/Swiss-Prot: DFNA5_HUMAN, O60443
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNA5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DFNA5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dfna51 , 5 deafness, autosomal dominant 5 (human)1, 5 77.24(n)1
    72.32(a)1
      6 (24.13 cM)5
    547221  NM_018769.31  NP_061239.11 
     501893695 
    chicken
    (Gallus gallus)
    Aves DFNA51 deafness, autosomal dominant 5 59.85(n)
    52.97(a)
      420623  NM_001006361.1  NP_001006361.1 
    lizard
    (Anolis carolinensis)
    Reptilia DFNA56
    deafness, autosomal dominant 5
    49(a)
    1 ↔ 1
    6(31092547-31131612)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dfna51 deafness, autosomal dominant 5 53.56(n)
    44.4(a)
      100486029  XM_002933399.2  XP_002933445.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dfna51 deafness, autosomal dominant 5 48.21(n)
    37.34(a)
      335722  NM_001001947.1  NP_001001947.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DFNA5 gene
    DFNB592  

    Find genes that share paralogs with DFNA5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DFNA5 (see all 1543)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1390687071,2
    --24711486(+) TTTTAC/TTTATT 3 -- ds5001 int10--------
    rs1175845121,2
    F--24712049(+) CAGGGG/ATGTGT 3 -- ut311Minor allele frequency- A:0.01NA 120
    rs69577821,2
    C,F,A,H--24712059(+) TTACTG/ATTAGA 3 -- ut3117Minor allele frequency- A:0.08NS EA NA WA 2028
    rs2014560601,2
    C--24712100(+) GAATA-/TACTC 
            
    TACTC
    3 -- ut310--------
    rs723115231,2
    C--24712101(+) AATAT-/TACTC 
            
    ACTCT
    3 -- ut310--------
    rs129791,2
    C,F,H--24712105(-) TCCTAG/CAGTAT 3 -- ut3119Minor allele frequency- C:0.19MN NS EA NA WA 1592
    rs1922899651,2
    --24712108(+) CTCTAG/TGAGCA 3 -- ut310--------
    rs1440612921,2
    C--24712138(+) CATCAA/GATAAC 3 -- ut310--------
    rs1181108601,2
    F--24712162(+) AAAACG/ATAGCC 3 -- ut311Minor allele frequency- A:0.01EA 120
    rs1449285301,2
    C--24712240(+) TCAGAC/GTCTTT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for DFNA5 (24737972 - 24809244 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DFNA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507379CNV Insertion20534489
    nsv525284CNV Loss19592680
    nsv520276CNV Gain19592680
    nsv527599CNV Gain19592680
    nsv7393OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): DFNA5
    Locus Specific Mutation Databases (LSDB): DFNA5

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608798   
    OMIM disorders: 600994  
    UniProtKB/Swiss-Prot: DFNA5_HUMAN, O60443
  • 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. 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 major types of tumors. Could be a valuable
    molecular marker in cancer

  • 3 diseases for DFNA5:    
    About MalaCards
    dfna 5 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 5    deafness, autosomal dominant 4b

    2 diseases from the University of Copenhagen DISEASES database for DFNA5:
    Nonsyndromic deafness     Sensorineural hearing loss

    Find genes that share disorders with DFNA5           About GenesLikeMe

    1 Novoseek inferred disease relationship for DFNA5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 21 3 11297734 (2), 16735241 (1)

    Genatlas disease: DFNA5
    neurosensory dominant deafness,5,non syndromic,postlingual,progressive,starting in the high tones

    Genetic Association Database (GAD): DFNA5
    Human Genome Epidemiology (HuGE) Navigator: DFNA5 (2 documents)

    Export disorders for DFNA5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DFNA5 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with DFNA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. (PubMed id 21522185)1, 2 Op de Beeck K....Van Laer L. (Eur. J. Hum. Genet. 2011)
    2. Single nucleotide polymorphisms in Wnt signaling and cell death pathway genes and susceptibility to colorectal cancer. (PubMed id 20403915)1, 4 Frank B....Brenner H. (Carcinogenesis 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma. (PubMed id 18223688)1, 2 Kim M.S.... Sidransky D. (Oncogene 2008)
    5. The potential role of DFNA5, a hearing impairment gene, in p53- mediated cellular response to DNA damage. (PubMed id 16897187)1, 2 Masuda Y.... Arakawa H. (J. Hum. Genet. 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. (PubMed id 9771715)1, 2 Van Laer L.... Van Camp G. (Nat. Genet. 1998)
    10. Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas. (PubMed id 9523727)1, 2 Thompson D.A. and Weigel R.J. (Eur. J. Biochem. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1687 HGNC: 2810 AceView: DFNA5 Ensembl:ENSG00000105928 euGenes: HUgn1687
    ECgene: DFNA5 H-InvDB: DFNA5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DFNA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DFNA5 gene:
    Search GeneIP for patents involving DFNA5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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