TPRN taperin [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPRNprovided by HGNC
Official Full Name: taperinprovided by HGNC
Primary source: HGNC:HGNC:26894
See related: Ensembl:ENSG00000176058 MIM:613354; AllianceGenome:HGNC:26894
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: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137191619..137200741, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149429282..149438404, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (140086071..140095193, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

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.
A Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN.
Title: The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
Title: Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
genome-wide homozygosity mapping in a Moroccan family; mapped autosomal-recessive nonsyndromic hearing loss to DFNB79 locus on chromosome 9q34; identified a causative homozygous 11 bp deletion, c.42_52del, in TPRN gene in affected individuals
Title: Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 79 MedGen: C2750082 OMIM: 613307 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009V25 (e-PCR)
- UniSTS:81450

NoName (e-PCR)
- UniSTS:484425

G32880 (e-PCR)
- UniSTS:117459

WI-4096 (e-PCR)
- UniSTS:19690

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 1 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in auditory receptor cell stereocilium organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in stereocilium base	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium base	ISS Inferred from Sequence or Structural Similarity more info

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.

Genomic

NG_027801.2 RefSeqGene

Range

8453..17575

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1360

mRNA and Protein(s)

NM_001128228.3 → NP_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

B7ZKU5, Q4KMQ1, Q5VSG5, Q5VSG6, Q6IPP2, Q8NCH2

Related

ENSP00000387100.4, ENST00000409012.6

Conserved Domains (3) summary

pfam05934
Location:306 → 420

MCLC; Mid-1-related chloride channel (MCLC)

pfam13914
Location:467 → 592

Phostensin; Phostensin PP1-binding and SH3-binding region

pfam13916
Location:8 → 87

Phostensin_N; PP1-regulatory protein, Phostensin N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

137191619..137200741 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

149429282..149438404 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.