Tprn taperin [Mus musculus (house mouse)] - Gene

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: Predicted to enable phosphatase binding activity. Involved in sensory perception of sound and stereocilium maintenance. Acts upstream of or within auditory receptor cell stereocilium organization. Located in stereocilium base. Is expressed in several structures, including central nervous system; immune system; reproductive 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, Apr 2022]
Expression: Biased expression in testis adult (RPKM 57.5), small intestine adult (RPKM 53.4) and 14 other tissues See more
Orthologs: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Critical role of TPRN rings in the stereocilia for hearing.
Title: Critical role of TPRN rings in the stereocilia for hearing.
Reducing Taperin Expression Restores Hearing in Grxcr2 Mutant Mice.
Title: Reducing Taperin Expression Restores Hearing in Grxcr2 Mutant Mice.
Tprn is critical to the retention of the integrity of the stereociliary rootlet. Loss of Tprn in Tprn-null mice caused the disruption of the stereociliary rootlet, which resulted in damage to stereociliary bundles and hearing impairments.
Title: Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice.
Stereocilia lacking GRXCR2 are longer than normal and disorganized due to the mislocalization of taperin, which could modulate the actin cytoskeleton in stereocilia.
Title: GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing.
taperin plays an important role in maintenance of hair cell stereocilia.
Title: Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)
Endonuclease-mediated (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatase binding	IEA Inferred from Electronic Annotation more info
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 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase inhibitor activity	ISO Inferred from Sequence Orthology 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 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 cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology 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 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

General protein information

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Preferred Names: taperin

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.