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ESPN Gene

protein-coding   GIFtS: 47
GCID: GC01P006484

Espin

(Previous names: deafness, autosomal recessive 36)
(Previous symbol: DFNB36)
  See 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
espin1 2
DFNB361 2 3
Autosomal Recessive Deafness Type 36 Protein2 3
Ectoplasmic Specialization Protein2 3
Deafness, Autosomal Recessive 361

External Ids:    HGNC: 132811   Entrez Gene: 837152   Ensembl: ENSG000001870177   OMIM: 6063515   UniProtKB: B1AK533   

Export aliases for ESPN gene to outside databases

Previous GC identifers: GC01P006061 GC01P006293 GC01P006194 GC01P006419 GC01P005632


(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 ESPN Gene:
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization,
dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that
mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are
associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without
vestibular involvement. (provided by RefSeq, Nov 2009)

GeneCards Summary for ESPN Gene:
ESPN (espin) is a protein-coding gene. Diseases associated with ESPN include dfnb36 nonsyndromic hearing loss and deafness, and deafness, autosomal recessive 36. GO annotations related to this gene include actin filament binding and SH3 domain binding. An important paralog of this gene is ESPNL.

UniProtKB/Swiss-Prot: ESPN_HUMAN, B1AK53
Function: Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimensions,
dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate
sensory transduction in variouS mechanosensory and chemosensory cells (By similarity)

Gene Wiki entry for ESPN (Espin) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the ESPN gene promoter:
         AhR   Pax-5   LCR-F1   E47   Arnt   Max   AREB6   N-Myc   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidESPN promoter sequence
   Search Chromatin IP Primers for ESPN

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


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

Entrez Gene cytogenetic band: 1p36.31   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.31

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P006484:  view genomic region     (about GC identifiers)

Start:
6,484,848 bp from pter      End:
6,521,430 bp from pter
Size:
36,583 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ESPN_HUMAN, B1AK53 (See protein sequence)
Recommended Name: Espin  
Size: 854 amino acids; 91733 Da
Subunit: Monomer (By similarity). Binds F-actin in a Ca(2+)-resistant fashion (By similarity). Interacts (via
N-terminal) with BAIAP2 (via SH3-domain) (By similarity). Interacts with PFN2 (By similarity)
Secondary accessions: Q6XYB2 Q9H0A2 Q9Y329
Alternative splicing: 2 isoforms:  B1AK53-1   B1AK53-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ESPN: NX_B1AK53

Explore proteomics data for ESPN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_113663.2  
    ENSEMBL proteins: 
     ENSP00000367059   ENSP00000401793   ENSP00000465308   ENSP00000466437   ENSP00000413621  
     ENSP00000399239  

    ESPN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for ESPN
    OriGene Protein Over-expression Lysate for ESPN
    OriGene Custom MassSpec
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    GenScript Custom Purified and Recombinant Proteins Services for ESPN
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ESPN

    ESPN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Custom Antibody Services for ESPN
    Novus Biologicals ESPN Antibody
    Abcam antibodies for ESPN
    Cloud-Clone Corp. Antibodies for ESPN
    Search ThermoFisher Antibodies for ESPN
    LSBio Antibodies in human, mouse, rat for ESPN

    ESPN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ESPN
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    GenScript Custom Assay Services for ESPN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ESPN
    Cloud-Clone Corp. CLIAs for ESPN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR003124 WH2_dom
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry B1AK53

    ProtoNet protein and cluster: B1AK53

    UniProtKB/Swiss-Prot: ESPN_HUMAN, B1AK53
    Domain: The WH2-domain binds actin monomer and mediates actin bundle assembly (By similarity)
    Similarity: Contains 9 ANK repeats
    Similarity: Contains 1 WH2 domain


    ESPN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ESPN_HUMAN, B1AK53
    Function: Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimensions,
    dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate
    sensory transduction in variouS mechanosensory and chemosensory cells (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005515protein binding ----
    GO:0017124SH3 domain binding ISS12598619
    GO:0051015actin filament binding ISS8799813
         
    ESPN for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Espn):
     behavior/neurological  digestive/alimentary  hearing/vestibular/ear  hematopoietic system  immune system 
     nervous system 

    ESPN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ESPN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ESPN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ESPN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ESPN

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ESPN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESPN (see all 18):
    hsa-miR-30c hsa-miR-185* hsa-miR-15a hsa-miR-30d hsa-miR-3125 hsa-miR-3916 hsa-miR-30a hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidESPN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ESPN
    Predesigned siRNA for gene silencing in human, mouse, rat ESPN

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ESPN

    Clone
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    OriGene clones in human, mouse for ESPN (see all 11)
    OriGene ORF clones in mouse, rat for ESPN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ESPN (NM_031475)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESPN

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ESPN
    Browse ESI BIO Cell Lines and PureStem Progenitors for ESPN 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESPN


    (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 UniProtKB/Swiss-Prot
    ESPN_HUMAN, B1AK53: Cytoplasm, cytoskeleton (By similarity). Cell projection, stereocilium (By similarity). Cell
    projection, microvillus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005902microvillus ----
    GO:0005903brush border ISS9763424
    GO:0015629actin cytoskeleton ----
    GO:0031941filamentous actin ISS8799813

    ESPN for ontologies           About GeneDecksing


    (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 ESPN
    Interactions:

        Search GeneGlobe Interaction Network for ESPN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ESPN (B1AK533 ENSP000003670594) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAIAP2Q9UQB83, ENSP000003163384I2D: score=1 STRING: ENSP00000316338
    ACOT7ENSP000003670864STRING: ENSP00000367086
    CRYZENSP000003393994STRING: ENSP00000339399
    ENSG00000228605ENSP000004012724STRING: ENSP00000401272
    ENSG00000231558ENSP000004015044STRING: ENSP00000401504
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IEA--
    GO:0007626locomotory behavior IEA--
    GO:0030046parallel actin filament bundle assembly IEA--
    GO:0051017actin filament bundle assembly ----
    GO:0051491positive regulation of filopodium assembly IEA--

    ESPN for ontologies           About GeneDecksing



    (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 ESPN



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ESPN gene: 
    NM_031475.2  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377828(uc001amy.3) ENST00000418286 ENST00000461727(uc001amz.3)
    ENST00000475228 ENST00000478323 ENST00000475479 ENST00000434576 ENST00000477679
    ENST00000468561 ENST00000416731
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ESPN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESPN (see all 18):
    hsa-miR-30c hsa-miR-185* hsa-miR-15a hsa-miR-30d hsa-miR-3125 hsa-miR-3916 hsa-miR-30a hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidESPN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ESPN
    Predesigned siRNA for gene silencing in human, mouse, rat ESPN
    Clone
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    OriGene clones in human, mouse for ESPN (see all 11)
    OriGene ORF clones in mouse, rat for ESPN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ESPN (NM_031475)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESPN
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ESPN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESPN
      QuantiTect SYBR Green Assays in human, mouse, rat ESPN
      QuantiFast Probe-based Assays in human, mouse, rat ESPN

    1 AceView cDNA sequence:

    BF751565 

    GeneLoc Exon Structure


    (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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    ESPN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ESPN Expression
    About this image

    ESPN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ESPN Protein Expression
        Custom PCR Arrays for ESPN
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ESPN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESPN
    QuantiTect SYBR Green Assays in human, mouse, rat ESPN
    QuantiFast Probe-based Assays in human, mouse, rat ESPN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESPN

    (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 animals.

    Orthologs for ESPN gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Espn1 , 5 espin1, 5 82.95(n)1
    82.95(a)1
      4 (82.90 cM)5
    562261  NM_207687.21  NP_997570.11 
     1521203315 
    chicken
    (Gallus gallus)
    Aves ESPN1 espin 72.04(n)
    69.71(a)
      395461  XM_417532.4  XP_417532.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia espn1 espin 61.26(n)
    64.86(a)
      100379704  XM_004916193.1  XP_004916250.1 
    zebrafish
    (Danio rerio)
    Actinopterygii espn1 espin 61.34(n)
    59.63(a)
      567061  NM_001123282.1  NP_001116754.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta f6
    forked
    8(a)
    1 ↔ 1
    X(17126975-17174997)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ESPN gene
    ESPNL2  
    6 SIMAP similar genes for ESPN using alignment to 4 protein entries:     ESPN_HUMAN (see all proteins):
    DKFZp434G2126    PPP1R12A    DKFZp761E1322    MTPN    CDKN2A    ESPNL

    ESPN for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ESPN
    PGOHUM00000256862


    (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 ESPN (see all 962)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0434544
    Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36)4--see VAR_0434542 D N mis40--------
    VAR_0434534
    Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36)4--see VAR_0434532 S R mis40--------
    rs775476151,2
    C,F--5630423(+) CACTTG/TGTGGG 1 -- us2k13Minor allele frequency- T:0.04CSA WA NA 240
    rs1864413841,2
    --5630521(+) AGCCCA/GGAGAG 1 -- us2k10--------
    rs1502585791,2
    --5630622(+) TGCTCA/CCATGT 1 -- us2k10--------
    rs118032461,2
    C,F,H--5630623(+) GCTCAC/TATGTG 1 -- us2k15Minor allele frequency- T:0.02NA EA 190
    rs118032731,2
    C,F,H--5630827(+) GGAGGC/TCCAGG 1 -- us2k19Minor allele frequency- T:0.02NS EA NA 854
    rs1913138441,2
    --5630854(+) CAAGCC/TATTTT 1 -- us2k10--------
    rs1835563091,2
    --5630872(+) CCTCCC/TAACAG 1 -- us2k10--------
    rs792749161,2
    C,F--5631039(+) CAAGCG/ATCCCA 1 -- us2k11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for ESPN (6484848 - 6521430 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ESPN (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508836CNV Insertion20534489
    nsv470691CNV Loss18288195
    nsv871698CNV Loss21882294
    nsv871719CNV Loss21882294
    nsv870465CNV Loss21882294
    dgv127n71CNV Loss21882294
    nsv871453CNV Loss21882294
    dgv119n71CNV Loss21882294
    dgv125n71CNV Loss21882294
    nsv831536CNV Loss17160897

    Human Gene Mutation Database (HGMD): ESPN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ESPN
    DNA2.0 Custom Variant and Variant Library Synthesis for ESPN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606351   
    OMIM disorders: 609006  
    UniProtKB/Swiss-Prot: ESPN_HUMAN, B1AK53
  • Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: 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.
    DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for ESPN:    
    About MalaCards
    dfnb36 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 36    deafness, neurosensory, without vestibular involvement, autosomal dominant    deafness, autosomal recessive 76
    nonsyndromic hearing loss and deafness, autosomal recessive    deafness and hereditary hearing loss    nonsyndromic hearing loss and deafness    nonsyndromic deafness
    sensorineural hearing loss    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for ESPN:
    Nonsyndromic deafness

    ESPN for disorders           About GeneDecksing

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

    Export disorders for ESPN 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 ESPN gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with ESPN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. (PubMed id 15930085)1, 2, 4, 9 Donaudy F.... Gasparini P. (J. Med. Genet. 2006)
    2. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. (PubMed id 15286153)1, 2, 3, 9 Naz S.... Friedman T.B. (J. Med. Genet. 2004)
    3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    6. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    7. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. (PubMed id 10975527)1, 3 Zheng L....Bartles J.R. (Cell 2000)
    8. Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells. (PubMed id 16569662)1, 9 Loomis P.A....Bartles J.R. (J. Cell. Sci. 2006)
    9. A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. (PubMed id 18973245)1 Boulouiz R....Barakat A. (Am. J. Med. Genet. A 2008)
    10. Unique transgenic animal model for hereditary hearing loss. (PubMed id 19102128)1 Cosetti M....Hannan F. (Ann. Otol. Rhinol. Laryngol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83715 HGNC: 13281 AceView: ESPN.2 Ensembl:ENSG00000187017 euGenes: HUgn83715
    ECgene: ESPN H-InvDB: ESPN

    (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 ESPN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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