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TPRN taperin [ Homo sapiens (human) ]

Gene ID: 286262, updated on 12-Aug-2018
Official Symbol
TPRNprovided by HGNC
Official Full Name
taperinprovided by HGNC
Primary source
HGNC:HGNC:26894
See related
Ensembl:ENSG00000176058 MIM:613354; Vega:OTTHUMG00000020984
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
See TPRN in Genome Data Viewer
Location:
9q34.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (137191617..137200711, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140086069..140095163, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 210 Neighboring gene anaphase promoting complex subunit 2 Neighboring gene SS nuclear autoantigen 1 Neighboring gene transmembrane protein 203 Neighboring gene NADPH dependent diflavin oxidoreductase 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Deafness, autosomal recessive 79
MedGen: C2750082 OMIM: 613307 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ90254, MGC131933

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
phosphatase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
stereocilium maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
 

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_027801.1 RefSeqGene

    Range
    5001..14095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128228.2NP_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
    Q4KMQ1
    Related
    ENSP00000387100.4, OTTHUMP00000022693, ENST00000409012.5, OTTHUMT00000055323
    Conserved Domains (3) summary
    pfam05934
    Location:306420
    MCLC; Mid-1-related chloride channel (MCLC)
    pfam13914
    Location:467592
    Phostensin; Phostensin PP1-binding and SH3-binding region
    pfam13916
    Location:887
    Phostensin_N; PP1-regulatory protein, Phostensin N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    137191617..137200711 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.
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