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Aliases for TPRN Gene

Aliases for TPRN Gene

  • Taperin 2 3
  • C9orf75 3 4 6
  • DFNB79 3 6
  • Chromosome 9 Open Reading Frame 75 2
  • Deafness, Autosomal Recessive 79 2

External Ids for TPRN Gene

Previous Symbols for TPRN Gene

  • C9orf75
  • DFNB79

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

Genomic Location for TPRN Gene

Start:
137,191,617 bp from pter
End:
137,204,193 bp from pter
Size:
12,577 bases
Orientation:
Minus strand

Genomic View for TPRN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPRN Gene

No data available for Regulatory Elements for TPRN Gene

Proteins for TPRN Gene

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

    Protein Symbol:
    Q4KMQ1-TPRN_HUMAN
    Recommended name:
    Taperin
    Protein Accession:
    Q4KMQ1
    Secondary Accessions:
    • B7ZKU5
    • Q5VSG5
    • Q5VSG6
    • Q6IPP2
    • Q8NCH2

    Protein attributes for TPRN Gene

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

    Alternative splice isoforms for TPRN Gene

    UniProtKB/Swiss-Prot:

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 for TPRN Gene

Protein Domains for TPRN Gene

Suggested Antigen Peptide Sequences for TPRN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4KMQ1

UniProtKB/Swiss-Prot:

TPRN_HUMAN
Family:
  • Belongs to the taperin family.:
    • Q4KMQ1
genes like me logo Genes that share domains with TPRN: view

No data available for Gene Families for TPRN Gene

Function for TPRN Gene

Gene Ontology (GO) - Molecular Function for TPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0019902 phosphatase binding IEA --
genes like me logo Genes that share ontologies with TPRN: view

miRNA for TPRN Gene

miRTarBase miRNAs that target TPRN

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for TPRN Gene COMPARTMENTS Subcellular localization image for TPRN gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032420 stereocilium ISS --
genes like me logo Genes that share ontologies with TPRN: view

Pathways for TPRN Gene

SuperPathways for TPRN Gene

No Data Available

Interacting Proteins for TPRN Gene

Gene Ontology (GO) - Biological Process for TPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 20170898
genes like me logo Genes that share ontologies with TPRN: view

No data available for Pathways by source for TPRN Gene

Transcripts for TPRN Gene

Unigene Clusters for TPRN Gene

Taperin:
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
TPRN
ECgene alternative splicing isoforms for
TPRN

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 (6.5).

Integrated Proteomics: protein expression 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

Q4KMQ1-TPRN_HUMAN
Tissue specificity: Expression is detected in fetal cochlea.
genes like me logo Genes that share expressions with TPRN: view

Orthologs for TPRN Gene

This gene was present in the common ancestor of chordates.

Orthologs for TPRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPRN 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPRN 35
  • 77.14 (n)
  • 67.86 (a)
TPRN 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPRN 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tprn 35
  • 76.52 (n)
  • 73.54 (a)
Tprn 16
Tprn 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TPRN 36
  • 37 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 13 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tprn 35
  • 76.77 (n)
  • 72.39 (a)
chicken
(Gallus gallus)
Aves TPRN 35
  • 63.35 (n)
  • 55.72 (a)
TPRN 36
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPRN 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731408 35
  • 52.58 (n)
  • 42.7 (a)
zebrafish
(Danio rerio)
Actinopterygii tprn 36
  • 24 (a)
OneToOne
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

ENSEMBL:
Gene Tree for TPRN (if available)
TreeFam:
Gene Tree for TPRN (if available)

Paralogs for TPRN Gene

Paralogs for TPRN Gene

Selected 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 MAF
rs1128558 -- 137,191,812(-) AGATT(C/T)TGCAC utr-variant-3-prime
rs1128565 -- 137,191,680(-) GCCCT(C/T)TGTGA utr-variant-3-prime
rs4880220 -- 137,198,736(+) CACTG(G/T)CTGCC intron-variant
rs5901120 -- 137,202,504(+) AAACA(-/G)GGGAA upstream-variant-2KB
rs9411252 -- 137,195,039(+) GGTTA(C/T)CAAAG 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

Relevant External Links for TPRN Gene

HapMap Linkage Disequilibrium report
TPRN
Human Gene Mutation Database (HGMD)
TPRN

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

Disorders for TPRN Gene

(1) OMIM Diseases for TPRN Gene (613354)

UniProtKB/Swiss-Prot

TPRN_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for TPRN Gene

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

Publications for TPRN Gene

  1. 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 4
  2. 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
  3. Deafness and Hereditary Hearing Loss Overview (PMID: 20301607) Pagon R.A. … Stephens K. ( 1993) 3
  4. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M. … da Cruz e Silva E.F. (Biochem. Pharmacol. 2011) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for TPRN Gene

Sources for TPRN Gene

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