• Gene id: 286262

Gene Summary

• Gene Symbol: TPRN   Gene   UCSC   Ensembl
• Aliases: C9orf75, DFNB79
• Gene name: taperin
• Alternate names: taperin,
• Gene location: 9q34.3 (137200740: 137191618)     Exons: 4     NC_000009.12
• Gene summary(Entrez): 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. [pr
• OMIM: 612434

Protein Summary

• Protein general information: Q4KMQ1  
  • Name: Taperin
  • Length: 711  
  • Mass: 75556
  • Tissue specificity: Expression is detected in fetal cochlea. {ECO
• Sequence:

  MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENPFMLLEAERRRGGGAA
  GARLLERYRRVPGVRALRADSVLIIETVPGFPPAPPAPGAAQIRAAEVLVYGAPPGRVSRLLERFDPPAAPRRRG
  SPERARPPPPPPPPAPPRPPPAAPSPPAAPGPRGGGASPGARRSDFLQKTGSNSFTVHPRGLHRGAGARLLSNGH
  SAPEPRAGPANRLAGSPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASATPSQRQCVSAATSTNDSFEIR
  PAPKPVMETIPLGDLQARALASLRANSRNSFMVIPKSKASGAPPPEGRQSVELPKGDLGPASPSQELGSQPVPGG
  DGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPPPFLPAASEEAEPAEGLRVPGLAKNSREYVR
  PGLPVTFIDEVDSEEAPQAAKLPYLPHPARPLHPARPGCVAELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPR
  PREAEEEEASCLLGPTLKKRYPTVHEIEVIGGYLALQKSCLTKAGSSRKKMKISFNDKSLQTTFEYPSESSLEQE
  EEVDQQEEEEEEEEEEEEEEEGSGSEEKPFALFLPRATFVSSVRPESSRLPEGSSGLSSYTPKHSVAFSKWQEQA
  LEQAPREAEPPPVEAMLTPASQNDLSDFRSEPALYF

• Structural information:
  • Interpro: IPR025903  IPR025907  IPR026671  IPR033359  
  • STRING: ENSP00000387100
• Other Databases: GeneCards:  TPRN  Malacards:  TPRN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	IEA	biological process
GO:0019902	phosphatase binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032420	stereocilium	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0120045	stereocilium maintenance	IEA	biological process
GO:0120044	stereocilium base	IEA	cellular component
GO:0060088	auditory receptor cell stereocilium organization	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0032420	stereocilium	ISS	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq