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Aliases for TPRN Gene

Aliases for TPRN Gene

  • Taperin 2 3 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G137166 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +33.0 33049 10.1 HDGF AGO1 SIN3A ZNF2 ZBTB7B GLIS2 KLF7 ZNF263 SP3 REST TPRN DPH7 ARRDC1-AS1 NDOR1 TMEM203 GRIN1 DPP7 MAN1B1 SNAPC4 ANAPC2
GH09G136881 1.6 Ensembl ENCODE dbSUPER 10.3 +321.5 321531 2.7 HDGF PKNOX1 FOXA2 MLX AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9 PHPT1 MAMDC4 C9orf172 TMEM141 LCN12 PRR31 C8G FBXW5 RABL6 C9orf139
GH09G137149 1.1 Ensembl ENCODE 12.4 +53.3 53320 1.9 HDGF E2F7 DEAF1 BRCA1 ZEB1 PCBP1 KLF7 RELB IKZF2 SP3 TMEM210 ANAPC2 TPRN DPP7 MAN1B1 TMEM203 NDOR1 UAP1L1 LOC105376328 GRIN1
GH09G136884 1.3 ENCODE dbSUPER 10.3 +317.9 317919 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZBTB7B ZNF207 ZNF143 FOS PHPT1 SNHG7 MAMDC4 C9orf172 C8G FBXW5 LCN12 TMEM141 PRR31 RABL6
GH09G137160 1 Ensembl ENCODE 12.7 +40.8 40794 5.3 CTCF KLF1 SUZ12 RBBP5 RAD21 GLIS2 POLR2A KLF8 EZH2 PHF8 DPP7 SSNA1 ANAPC2 TPRN GRIN1 MAN1B1 NDOR1 TMEM203 NPDC1 EXD3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TPRN on UCSC Golden Path with GeneCards custom track

Promoters for TPRN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243159 -1407 1201 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3

Genomic Location for TPRN Gene

Chromosome:
9
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

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:
    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

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

Gene Families for TPRN Gene

Suggested Antigen Peptide Sequences for TPRN Gene

Graphical View of Domain Structure for InterPro Entry

Q4KMQ1

UniProtKB/Swiss-Prot:

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

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:0005515 protein binding IPI 22321011
GO:0019902 phosphatase binding IEA --
genes like me logo Genes that share ontologies with TPRN: view
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

CRISPR Products

miRNA for TPRN Gene

miRTarBase miRNAs that target TPRN

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TPRN

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPRN gene
Compartment Confidence
nucleus 3
plasma membrane 2
cytosol 2

Gene Ontology (GO) - Cellular Components for TPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032420 stereocilium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TPRN: view

Pathways & Interactions for TPRN Gene

No Data Available

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 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

Taperin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TPRN

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TPRN Gene



NURSA nuclear receptor signaling pathways regulating expression of TPRN Gene:

TPRN

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.

Evidence on tissue expression from TISSUES for TPRN Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPRN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
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
chimpanzee
(Pan troglodytes)
Mammalia TPRN 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPRN 34 35
  • 77.14 (n)
rat
(Rattus norvegicus)
Mammalia Tprn 34
  • 76.77 (n)
mouse
(Mus musculus)
Mammalia Tprn 34 16 35
  • 76.52 (n)
dog
(Canis familiaris)
Mammalia TPRN 35
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TPRN 35
  • 37 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 13 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TPRN 34 35
  • 63.35 (n)
lizard
(Anolis carolinensis)
Reptilia TPRN 35
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731408 34
  • 52.58 (n)
zebrafish
(Danio rerio)
Actinopterygii tprn 35
  • 24 (a)
OneToOne
Species where no ortholog for TPRN was found in the sources mined by GeneCards:
  • 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

(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
rs267607135 Pathogenic 137,199,473(-) AGGTG(A/G)CAGAG reference, stop-gained
rs387906219 Pathogenic 137,199,285(-) CCTCC(-/C)GCACC reference, frameshift-variant
rs387906220 Pathogenic 137,200,474(-) GGCTG(-/GGGCGCGGCTG)CTGGA reference, frameshift-variant
rs387906221 Pathogenic 137,200,477(-) GCGGC(-/GGGGGCGCGGC)TGCTG reference, frameshift-variant
rs387906222 Pathogenic 137,199,182(-) CCAGG(-/G)ACTCT reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv13009n54 CNV loss 21841781
dgv13010n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
nsv1077201 CNV deletion 25765185
nsv1126930 CNV deletion 24896259
nsv1161918 CNV duplication 26073780
nsv524322 CNV loss 19592680
nsv616007 CNV loss 21841781
nsv616010 CNV loss 21841781
nsv616012 CNV loss 21841781
nsv951207 CNV deletion 24416366

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)
TPRN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPRN

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

Disorders for TPRN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 79
  • autosomal recessive nonsyndromic deafness 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 hearing loss and deafness, autosomal recessive
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

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.

Relevant External Links for TPRN

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

No data available for Genatlas for TPRN Gene

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 64
  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 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  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 64

Products for TPRN Gene

Sources for TPRN Gene

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