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TPRN taperin [ Homo sapiens (human) ]

Gene ID: 286262, updated on 27-Nov-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
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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
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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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