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    TPRN taperin [ Homo sapiens (human) ]

    Gene ID: 286262, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TPRNprovided by HGNC
    Official Full Name
    taperinprovided by HGNC
    Primary source
    HGNC:HGNC:26894
    See related
    Ensembl:ENSG00000176058 MIM:613354; AllianceGenome:HGNC:26894
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB79; C9orf75
    Summary
    This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in colon (RPKM 6.8), small intestine (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TPRN in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137191619..137200741, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149429282..149438404, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140086071..140095193, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902315 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140069251-140070084 Neighboring gene anaphase promoting complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20588 Neighboring gene SS nuclear autoantigen 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140088338-140089216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140089217-140090094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140095653-140096181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20591 Neighboring gene transmembrane protein 203 Neighboring gene NADPH dependent diflavin oxidoreductase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140111657-140112396 Neighboring gene ring finger protein-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140112397-140113136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140113137-140113876

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. Bashir R, et al. Biochem Genet, 2013 Jun. PMID 23340767, Free PMC Article
    2. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Khan SY, et al. Eur J Hum Genet, 2010 Jan. PMID 19603065, Free PMC Article
    3. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Li Y, et al. Am J Hum Genet, 2010 Mar 12. PMID 20170898, Free PMC Article
    4. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Rehman AU, et al. Am J Hum Genet, 2010 Mar 12. PMID 20170899, Free PMC Article
    5. Critical role of TPRN rings in the stereocilia for hearing. Qi J, et al. Mol Ther, 2024 Jan 3. PMID 37952086,

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Critical role of TPRN rings in the stereocilia for hearing.
      Title: Critical role of TPRN rings in the stereocilia for hearing.
    2. A Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN.
      Title: The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
    3. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
      Title: Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
    4. genome-wide homozygosity mapping in a Moroccan family; mapped autosomal-recessive nonsyndromic hearing loss to DFNB79 locus on chromosome 9q34; identified a causative homozygous 11 bp deletion, c.42_52del, in TPRN gene in affected individuals
      Title: Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 79
    MedGen: C2750082 OMIM: 613307 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90254, MGC131933

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 1 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in auditory receptor cell stereocilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in stereocilium maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in stereocilium maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microvillus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in stereocilium base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium base ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    taperin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027801.2 RefSeqGene

      Range
      8453..17575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1360

    mRNA and Protein(s)

    1. NM_001128228.3 → NP_001121700.2  taperin

      See identical proteins and their annotated locations for NP_001121700.2

      Status: VALIDATED

      Source sequence(s)
      AL929554, BC098411
      Consensus CDS
      CCDS56594.1
      UniProtKB/Swiss-Prot
      B7ZKU5, Q4KMQ1, Q5VSG5, Q5VSG6, Q6IPP2, Q8NCH2
      Related
      ENSP00000387100.4, ENST00000409012.6
      Conserved Domains (3) summary
      pfam05934
      Location:306 → 420
      MCLC; Mid-1-related chloride channel (MCLC)
      pfam13914
      Location:467 → 592
      Phostensin; Phostensin PP1-binding and SH3-binding region
      pfam13916
      Location:8 → 87
      Phostensin_N; PP1-regulatory protein, Phostensin N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137191619..137200741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149429282..149438404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173691.3: Suppressed sequence

      Description
      NM_173691.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4KMQ1.2 GenPept UniProtKB/Swiss-Prot:Q4KMQ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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