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Aliases for TPRN Gene

Aliases for TPRN Gene

  • Taperin 2 3 5
  • C9orf75 3 4
  • Chromosome 9 Open Reading Frame 75 2
  • Deafness, Autosomal Recessive 79 2
  • DFNB79 3

External Ids for TPRN Gene

Previous HGNC Symbols for TPRN Gene

  • C9orf75
  • DFNB79

Previous GeneCards Identifiers for TPRN Gene

  • GC09M140086
  • GC09M109546

Summaries for TPRN Gene

Entrez Gene Summary for TPRN Gene

  • 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]

GeneCards Summary for TPRN Gene

TPRN (Taperin) is a Protein Coding gene. Diseases associated with TPRN include Deafness, Autosomal Recessive 79 and Dfnb79 Nonsyndromic Hearing Loss And Deafness. GO annotations related to this gene include phosphatase binding. An important paralog of this gene is PPP1R18.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPRN Gene

Genomics for TPRN Gene

Regulatory Elements for TPRN Gene

Enhancers for TPRN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TPRN on UCSC Golden Path with GeneCards custom track

Genomic Location for TPRN Gene

137,191,617 bp from pter
137,204,193 bp from pter
12,577 bases
Minus strand

Genomic View for TPRN Gene

Genes around TPRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPRN Gene

Proteins for TPRN Gene

  • Protein details for TPRN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B7ZKU5
    • Q5VSG5
    • Q5VSG6
    • Q6IPP2
    • Q8NCH2

    Protein attributes for TPRN Gene

    711 amino acids
    Molecular mass:
    75556 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAI11501.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TPRN Gene


neXtProt entry for TPRN Gene

Proteomics data for TPRN Gene at MOPED

Post-translational modifications for TPRN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TPRN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TPRN Gene

Domains & Families for TPRN Gene

Protein Domains for TPRN Gene

Suggested Antigen Peptide Sequences for TPRN Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the taperin family.
  • Belongs to the taperin family.
genes like me logo Genes that share domains with TPRN: view

No data available for Gene Families for TPRN Gene

Function for TPRN Gene

genes like me logo Genes that share phenotypes with TPRN: view

Human Phenotype Ontology for TPRN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TPRN Gene

MGI Knock Outs for TPRN:
  • Tprn tm1.1(KOMP)Vlcg

Animal Model Products

miRNA for TPRN Gene

miRTarBase miRNAs that target TPRN

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TPRN Gene

Localization for TPRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPRN Gene

Cell projection, stereocilium. Note=Localized prominently at the taper regions of hair cell stereocilia. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for TPRN Gene COMPARTMENTS Subcellular localization image for TPRN gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 2

No data available for Gene Ontology (GO) - Cellular Components for TPRN Gene

Pathways & Interactions for TPRN Gene

SuperPathways for TPRN Gene

No Data Available

Interacting Proteins for TPRN Gene

Gene Ontology (GO) - Biological Process for TPRN Gene


No data available for Pathways by source and SIGNOR curated interactions for TPRN Gene

Drugs & Compounds for TPRN Gene

No Compound Related Data Available

Transcripts for TPRN Gene

Unigene Clusters for TPRN Gene

Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPRN Gene

No ASD Table

Relevant External Links for TPRN Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TPRN Gene

mRNA expression in normal human tissues for TPRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPRN Gene

This gene is overexpressed in Pancreas (x6.5).

Protein differential expression in normal tissues from HIPED for TPRN Gene

This gene is overexpressed in Pancreatic juice (14.7), Peripheral blood mononuclear cells (12.5), Saliva (12.5), Bone marrow mesenchymal stem cell (7.9), and Heart (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TPRN Gene

SOURCE GeneReport for Unigene cluster for TPRN Gene Hs.323445

mRNA Expression by UniProt/SwissProt for TPRN Gene

Tissue specificity: Expression is detected in fetal cochlea.
genes like me logo Genes that share expression patterns with TPRN: view

Primer Products

No data available for Protein tissue co-expression partners for TPRN Gene

Orthologs for TPRN Gene

This gene was present in the common ancestor of chordates.

Orthologs for TPRN Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TPRN 35
  • 77.14 (n)
  • 67.86 (a)
  • 65 (a)
(Mus musculus)
Mammalia Tprn 35
  • 76.52 (n)
  • 73.54 (a)
Tprn 16
Tprn 36
  • 62 (a)
(Rattus norvegicus)
Mammalia Tprn 35
  • 76.77 (n)
  • 72.39 (a)
(Canis familiaris)
Mammalia TPRN 36
  • 65 (a)
(Monodelphis domestica)
Mammalia TPRN 36
  • 37 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 13 (a)
(Pan troglodytes)
Mammalia TPRN 36
  • 92 (a)
(Gallus gallus)
Aves TPRN 35
  • 63.35 (n)
  • 55.72 (a)
  • 43 (a)
(Anolis carolinensis)
Reptilia TPRN 36
  • 36 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731408 35
  • 52.58 (n)
  • 42.7 (a)
(Danio rerio)
Actinopterygii tprn 36
  • 24 (a)
Species with no ortholog for TPRN:
  • 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 TPRN Gene

Gene Tree for TPRN (if available)
Gene Tree for TPRN (if available)

Paralogs for TPRN Gene

Paralogs for TPRN Gene

(1) SIMAP similar genes for TPRN Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TPRN: view

Variants for TPRN Gene

Sequence variations from dbSNP and Humsavar for TPRN Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1128558 -- 137,191,812(-) AGATT(C/T)TGCAC utr-variant-3-prime
rs1128565 -- 137,191,680(-) GCCCT(C/T)TGTGA utr-variant-3-prime
rs113441713 -- 137,201,308(+) GCGGG(G/T)CTTGG upstream-variant-2KB
rs113946593 -- 137,202,072(+) TTTTT(C/T)TTTTG upstream-variant-2KB
rs113986852 -- 137,193,026(+) TGGGC(A/T)GAGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv894387 CNV Gain 21882294
esv2422220 CNV Deletion 17116639
dgv8412n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
dgv8423n71 CNV Loss 21882294
nsv894502 CNV Loss 21882294
nsv894506 CNV Gain 21882294
dgv8428n71 CNV Loss 21882294
nsv894521 CNV Loss 21882294
dgv8437n71 CNV Gain 21882294
dgv8439n71 CNV Loss 21882294
dgv8441n71 CNV Loss 21882294
dgv8442n71 CNV Loss 21882294
dgv8445n71 CNV Loss 21882294
dgv8446n71 CNV Loss 21882294
dgv8447n71 CNV Loss 21882294
dgv8450n71 CNV Loss 21882294
nsv894603 CNV Gain+Loss 21882294
dgv8451n71 CNV Loss 21882294
dgv8452n71 CNV Gain+Loss 21882294
dgv8453n71 CNV Gain 21882294
dgv8454n71 CNV Gain 21882294
dgv8455n71 CNV Gain+Loss 21882294
nsv894629 CNV Loss 21882294
dgv8456n71 CNV Loss 21882294
nsv894631 CNV Loss 21882294
dgv8457n71 CNV Gain 21882294
nsv894637 CNV Loss 21882294

Variation tolerance for TPRN Gene

Gene Damage Index Score: 6.15; 75.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPRN Gene

Human Gene Mutation Database (HGMD)

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

Disorders for TPRN Gene

MalaCards: The human disease database

(4) MalaCards diseases for TPRN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 79
  • deafness, autosomal recessive, 79
dfnb79 nonsyndromic hearing loss and deafness
  • dfnb 79 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search TPRN in MalaCards View complete list of genes associated with diseases


  • Deafness, autosomal recessive, 79 (DFNB79) [MIM:613307]: A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. {ECO:0000269 PubMed:20170898, ECO:0000269 PubMed:20170899}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TPRN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TPRN: view

No data available for Genatlas for TPRN Gene

Publications for TPRN Gene

  1. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (PMID: 20170899) Rehman A.U. … Friedman T.B. (Am. J. Hum. Genet. 2010) 2 3 4 67
  2. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. (PMID: 20170898) Li Y. … Wollnik B. (Am. J. Hum. Genet. 2010) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Protein phosphatase 1I^ isoforms linked interactions in the brain. (PMID: 23080069) Esteves S.L. … da Cruz e Silva E.F. (J. Mol. Neurosci. 2013) 3

Products for TPRN Gene

Sources for TPRN Gene