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    Tprn taperin [ Mus musculus (house mouse) ]

    Gene ID: 97031, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tprnprovided by MGI
    Official Full Name
    taperinprovided by MGI
    Primary source
    MGI:MGI:2139535
    See related
    Ensembl:ENSMUSG00000048707 AllianceGenome:MGI:2139535
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    C430004E15Rik
    Summary
    Enables actin binding activity and protein phosphatase binding activity. Involved in sensory perception of sound and stereocilium maintenance. Acts upstream of or within auditory receptor cell stereocilium organization. Located in microvillus and stereocilium base. Is expressed in several structures, including central nervous system; genitourinary system; immune system; respiratory system; and submandibular gland. Used to study autosomal recessive nonsyndromic deafness 79. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 79. Orthologous to human TPRN (taperin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 57.5), small intestine adult (RPKM 53.4) and 14 other tissues See more
    Orthologs
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    Genomic context

    See Tprn in Genome Data Viewer
    Location:
    2 A3; 2 17.11 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (25152610..25159898)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (25262598..25269886)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene ring finger protein 208 Neighboring gene NADPH dependent diflavin oxidoreductase 1 Neighboring gene transmembrane protein 203 Neighboring gene STARR-positive B cell enhancer ABC_E805 Neighboring gene SS nuclear autoantigen 1 Neighboring gene anaphase promoting complex subunit 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (2) 

    General gene information

    Markers

    Clone Names

    • MGC107193

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase 1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein phosphatase 1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine phosphatase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine phosphatase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in auditory receptor cell stereocilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within auditory receptor cell stereocilium organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in stereocilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in stereocilium base IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in stereocilium base IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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.

    mRNA and Protein(s)

    1. NM_175286.4NP_780495.2  taperin

      See identical proteins and their annotated locations for NP_780495.2

      Status: VALIDATED

      Source sequence(s)
      AI842038, AK082888, AL732309
      Consensus CDS
      CCDS15759.2
      UniProtKB/Swiss-Prot
      A2AI08, Q3TAJ8, Q3TMR8, Q5FWB3, Q7TNG3, Q8BNM5, Q8R1G4
      Related
      ENSMUSP00000109975.4, ENSMUST00000114336.4
      Conserved Domains (2) summary
      pfam13914
      Location:506645
      Phostensin; Phostensin PP1-binding and SH3-binding region
      pfam13916
      Location:889
      Phostensin_N; PP1-regulatory protein, Phostensin N-terminal

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      25152610..25159898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)