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 Wednesday, January 23, 2013.)

---

Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

---

Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Whrn
  • is located in the following cellular components:
    • actin filament ^[8]
    • cilium ^[8]
    • stereocilia ankle link complex ^[9]
    • stereocilium ^{[2, 3, 6]}
    • stereocilium bundle ^[4]
• The gene product of Whrn has been shown to bind to the gene products of Lrrc4c, Mpp1, Myo15, Myo7a, Ush2a. ^{[1, 2, 3, 7]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Whrn
  • participates in the following biological processes:
    • inner ear receptor stereocilium organization ^{[5, 10]}
    • sensory perception of sound ^[8]

---

Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Whrn:
  • performs the following molecular functions:
    • protein domain specific binding
  • is located in the following cellular components:
    • axon
    • dendrite
    • dendritic shaft
    • membrane
    • neuronal cell body
    • photoreceptor connecting cilium
    • photoreceptor inner segment
    • stereocilium
    • synapse

---

Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Whrn indicates that it:
  • is located in the following cellular components:
    • cell projection
    • collagen
    • cytoplasm

---

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. 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)
4. Grimsley-Myers CM et al. (2009) The small GTPase Rac1 regulates auditory hair cell morphogenesis. J Neurosci, 29:15859-69. (PubMed:20016102)
5. 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)
6. 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)
7. 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)
8. 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)
9. 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)
10. 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)

---

---

Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

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

---