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Gene Ontology Classifications
Symbol
Name
ID
Whrn
whirlin
MGI:2682003

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Whrn. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq


This gene encodes a protein required for elongation and actin polymerization in the hair cell stereocilia. The encoded protein is localized to the cytoplasm and co-localizes with the growing end of actin filaments. Mutations in this gene have been linked to deafness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Adato A et al. (2005) Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet, 14:3921-32. (PubMed:16301217)
  2. Belyantseva IA et al. (2005) Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol, 7:148-56. (PubMed:15654330)
  3. Chen Q et al. (2014) Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem, 289:36070-88. (PubMed:25406310)
  4. Delprat B et al. (2005) Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet, 14:401-10. (PubMed:15590698)
  5. Grimsley-Myers CM et al. (2009) The small GTPase Rac1 regulates auditory hair cell morphogenesis. J Neurosci, 29:15859-69. (PubMed:20016102)
  6. Holme RH et al. (2002) Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J Comp Neurol, 450:94-102. (PubMed:12124769)
  7. Kikkawa Y et al. (2005) Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum Mol Genet, 14:391-400. (PubMed:15590699)
  8. Maerker T et al. (2008) A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet, 17:71-86. (PubMed:17906286)
  9. Manor U et al. (2011) Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. Curr Biol, 21:167-72. (PubMed:21236676)
  10. Mburu P et al. (2006) Whirlin complexes with p55 at the stereocilia tip during hair cell development. Proc Natl Acad Sci U S A, 103:10973-8. (PubMed:16829577)
  11. Mburu P et al. (2003) Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet, 34:421-8. (PubMed:12833159)
  12. Michalski N et al. (2007) Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci, 27:6478-88. (PubMed:17567809)
  13. Mogensen MM et al. (2007) The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motil Cytoskeleton, 64:496-508. (PubMed:17326148)
  14. Wright RN et al. (2012) RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. Invest Ophthalmol Vis Sci, 53:1519-29. (PubMed:22323458)
  15. Zou J et al. (2011) Whirlin Replacement Restores the Formation of the USH2 Protein Complex in Whirlin Knockout Photoreceptors. Invest Ophthalmol Vis Sci, 52:2343-51. (PubMed:21212183)
  16. Zou J et al. (2014) Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet, 23:2374-90. (PubMed:24334608)



Go Annotations in Tabular Form (Text View) (GO Graph)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement

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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory