MOUSE:WHRN

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Dfnb31 (synonyms: Kiaa1526, Whrn)
Protein Name(s)	Whirlin
External Links
UniProt	Q80VW5
EMBL	AY739114 AY739115 AY739116 AY739117 AY739118 AY739119 AY739120 AY739121 AY739122 HQ148552 HQ148553 AK157955 AL683828 AL683828 AL683828 AL683828 AL683828 AK122523
CCDS	CCDS18255.1 CCDS18256.1 CCDS18257.1 CCDS38778.1
RefSeq	NP_001008791.1 NP_001008792.1 NP_001008793.1 NP_001263300.1 NP_082916.1
UniGene	Mm.300397
ProteinModelPortal	Q80VW5
SMR	Q80VW5
IntAct	Q80VW5
MINT	MINT-1895268
PhosphoSite	Q80VW5
PaxDb	Q80VW5
PRIDE	Q80VW5
Ensembl	ENSMUST00000063650 ENSMUST00000063672 ENSMUST00000084510 ENSMUST00000095037 ENSMUST00000095038 ENSMUST00000102867 ENSMUST00000107393 ENSMUST00000119294
GeneID	73750
KEGG	mmu:73750
UCSC	uc008tgf.1 uc008tgg.1 uc008tgh.1 uc008tgi.1 uc008tgj.1 uc008tgk.1 uc008tgm.1 uc008tgn.1 uc008tgp.1
CTD	73750
MGI	MGI:2682003
eggNOG	NOG291372
GeneTree	ENSGT00530000063178
HOVERGEN	HBG056634
InParanoid	Q80VW5
OMA	APQNRSP
OrthoDB	EOG7J9VQG
PhylomeDB	Q80VW5
TreeFam	TF325033
NextBio	338987
PRO	PR:Q80VW5
Proteomes	UP000000589
Bgee	Q80VW5
CleanEx	MM_WHRN
ExpressionAtlas	Q80VW5
Genevestigator	Q80VW5
GO	GO:0005884 GO:0005929 GO:0005737 GO:0030426 GO:1990075 GO:0032391 GO:0002142 GO:0032420 GO:0032421 GO:0060122 GO:0010628 GO:0001895 GO:0050953 GO:0007605
Gene3D	2.30.42.10
InterPro	IPR001478
Pfam	PF00595
SMART	SM00228
SUPFAM	SSF50156
PROSITE	PS50106

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:1990227	paranodal junction maintenance	PMID:24011083^[1]	ECO:0000315			P		Figure 3 shows that sciatic nerves with whirlin mutants at various stages of development show abnormal paranodal formation compared to the wild type at the same stages of development.	complete CACAO 8639
	GO:0021694	cerebellar Purkinje cell layer formation	PMID:24011083^[1]	ECO:0000315			P		In Figure 5, Purkinje cells with whirlin knockout mutations show abnormal axonal growths that are not present on the wild type cells.	complete CACAO 8640
involved_in	GO:0001895	retina homeostasis	PMID:20502675^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0002141	stereocilia ankle link	PMID:20502675^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:1990075	periciliary membrane compartment	PMID:20502675^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	PMID:20502675^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:1990696	USH2 complex	PMID:20502675^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
colocalizes_with	GO:0043025	neuronal cell body	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q810W9	C		Seeded From UniProt	complete
colocalizes_with	GO:0001917	photoreceptor inner segment	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q810W9	C		Seeded From UniProt	complete
involved_in	GO:0021694	cerebellar Purkinje cell layer formation	PMID:24011083^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1990227	paranodal junction maintenance	PMID:24011083^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060122	inner ear receptor cell stereocilium organization	PMID:17326148^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060122	inner ear receptor cell stereocilium organization	PMID:12124769^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0032420	stereocilium	PMID:15590698^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0032420	stereocilium	PMID:15590699^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0032420	stereocilium	PMID:15654330^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0060088	auditory receptor cell stereocilium organization	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2682003 PANTHER:PTN000563362	P		Seeded From UniProt	complete
part_of	GO:0032426	stereocilium tip	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2682003 PANTHER:PTN000563297	C		Seeded From UniProt	complete
part_of	GO:0032420	stereocilium	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1919338 MGI:MGI:2682003 PANTHER:PTN000563297 RGD:1303329 RGD:631330	C		Seeded From UniProt	complete
colocalizes_with	GO:0032391	photoreceptor connecting cilium	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2682003 PANTHER:PTN000563297 RGD:631330	C		Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1919338 MGI:MGI:2682003 PANTHER:PTN000563297 UniProtKB:Q9P202 UniProtKB:Q9Y6N9	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1919338 PANTHER:PTN001136696 RGD:1303329	C		Seeded From UniProt	complete
part_of	GO:0002142	stereocilia ankle link complex	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2682003 PANTHER:PTN000563297	C		Seeded From UniProt	complete
part_of	GO:0002141	stereocilia ankle link	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2682003 MGI:MGI:3608325 PANTHER:PTN000563297	C		Seeded From UniProt	complete
colocalizes_with	GO:0001917	photoreceptor inner segment	PMID:21873635^[8]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1919338 MGI:MGI:2682003 PANTHER:PTN000563297 RGD:1303329 RGD:631330	C		Seeded From UniProt	complete
part_of	GO:1990696	USH2 complex	PMID:25406310^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:1990075	periciliary membrane compartment	PMID:24334608^[10]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0010009)	Seeded From UniProt	complete
part_of	GO:1990075	periciliary membrane compartment	PMID:21212183^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060088	auditory receptor cell stereocilium organization	PMID:27117407^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4432119	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0050953	sensory perception of light stimulus	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9P202	P		Seeded From UniProt	complete
enables	GO:0046982	protein heterodimerization activity	PMID:25406310^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:E9Q9W7	F		Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045184	establishment of protein localization	PMID:24334608^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857090 MGI:MGI:4462398	P	occurs_in:(EMAPA:17597) occurs_in:(CL:0000589) transports_or_maintains_localization_of:(UniProtKB:E9Q9W7)\|occurs_in(EMAPA:17597) occurs_in:(CL:0000601) transports_or_maintains_localization_of:(UniProtKB:E9Q9W7)	Seeded From UniProt	complete
part_of	GO:0043198	dendritic shaft	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
colocalizes_with	GO:0043025	neuronal cell body	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
enables	GO:0042803	protein homodimerization activity	PMID:25406310^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q80VW5	F		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:17906286^[13]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17168)\|part_of:(EMAPA:17168)	Seeded From UniProt	complete
part_of	GO:0032426	stereocilium tip	PMID:24334608^[10]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17597) part_of:(CL:0000589)\|part_of:(EMAPA:17597) part_of:(CL:0000601)	Seeded From UniProt	complete
part_of	GO:0032426	stereocilium tip	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
part_of	GO:0032421	stereocilium bundle	PMID:20016102^[14]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000589)	Seeded From UniProt	complete
part_of	GO:0032420	stereocilium	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	PMID:21212183^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	PMID:17906286^[13]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17168)\|part_of:(EMAPA:17168)	Seeded From UniProt	complete
colocalizes_with	GO:0032391	photoreceptor connecting cilium	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
part_of	GO:0030425	dendrite	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
part_of	GO:0030424	axon	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
enables	GO:0019904	protein domain specific binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0010628	positive regulation of gene expression	PMID:21212183^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007605	sensory perception of sound	PMID:27117407^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4432119	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007605	sensory perception of sound	PMID:12833159^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857090	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007605	sensory perception of sound	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9P202	P		Seeded From UniProt	complete
part_of	GO:0005929	cilium	PMID:12833159^[15]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17286) part_of:(CL:0000202)	Seeded From UniProt	complete
part_of	GO:0005884	actin filament	PMID:12833159^[15]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9P202	C		Seeded From UniProt	complete
part_of	GO:0002142	stereocilia ankle link complex	PMID:17567809^[16]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0002141	stereocilia ankle link	PMID:24334608^[10]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17597) part_of:(CL:0000589)\|part_of:(EMAPA:17597) part_of:(CL:0000601)	Seeded From UniProt	complete
part_of	GO:0002141	stereocilia ankle link	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
part_of	GO:0001917	photoreceptor inner segment	PMID:17906286^[13]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17168)\|part_of:(EMAPA:17168)	Seeded From UniProt	complete
colocalizes_with	GO:0001917	photoreceptor inner segment	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:631330	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001895	retina homeostasis	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9P202	P		Seeded From UniProt	complete
involved_in	GO:0050953	sensory perception of light stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9P202 ensembl:ENSP00000354623	P		Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9P202 ensembl:ENSP00000354623	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9P202 ensembl:ENSP00000354623	C		Seeded From UniProt	complete
involved_in	GO:0001895	retina homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9P202 ensembl:ENSP00000354623	P		Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033028	P		Seeded From UniProt	complete
involved_in	GO:0050953	sensory perception of light stimulus	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033028	P		Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1009	P		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0770 UniProtKB-SubCell:SL-0258	C		Seeded From UniProt	complete
part_of	GO:0001917	photoreceptor inner segment	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0457	C		Seeded From UniProt	complete
part_of	GO:0032420	stereocilium	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0302	C		Seeded From UniProt	complete
part_of	GO:0030426	growth cone	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0288	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 Green, JA et al. (2013) Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons. BMC Neurosci 14 96 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 Yang, J et al. (2010) Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet. 6 e1000955 PubMed GONUTS page
↑ 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 GONUTS page
↑ Holme, RH et al. (2002) Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J. Comp. Neurol. 450 94-102 PubMed GONUTS page
↑ 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 GONUTS page
↑ 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 GONUTS page
↑ 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 GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 ^8.4 ^8.5 ^8.6 ^8.7 ^8.8 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 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 GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 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 GONUTS page
↑ ^11.0 ^11.1 ^11.2 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 GONUTS page
↑ ^12.0 ^12.1 Ebrahim, S et al. (2016) Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. Cell Rep 15 935-943 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 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 GONUTS page
↑ Grimsley-Myers, CM et al. (2009) The small GTPase Rac1 regulates auditory hair cell morphogenesis. J. Neurosci. 29 15859-69 PubMed GONUTS page
↑ ^15.0 ^15.1 ^15.2 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 GONUTS page
↑ 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 GONUTS page

[PMID:24011083-1] 1.0 ^1.1 ^1.2 ^1.3 Green, JA et al. (2013) Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons. BMC Neurosci 14 96 PubMed GONUTS page

[PMID:20502675-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 Yang, J et al. (2010) Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet. 6 e1000955 PubMed GONUTS page

[PMID:17326148-3] 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 GONUTS page

[PMID:12124769-4] Holme, RH et al. (2002) Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J. Comp. Neurol. 450 94-102 PubMed GONUTS page

[PMID:15590698-5] 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 GONUTS page

[PMID:15590699-6] 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 GONUTS page

[PMID:15654330-7] 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 GONUTS page

[PMID:21873635-8] 8.0 ^8.1 ^8.2 ^8.3 ^8.4 ^8.5 ^8.6 ^8.7 ^8.8 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:25406310-9] 9.0 ^9.1 ^9.2 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 GONUTS page

[PMID:24334608-10] 10.0 ^10.1 ^10.2 ^10.3 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 GONUTS page

[PMID:21212183-11] 11.0 ^11.1 ^11.2 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 GONUTS page

[PMID:27117407-12] 12.0 ^12.1 Ebrahim, S et al. (2016) Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. Cell Rep 15 935-943 PubMed GONUTS page

[PMID:17906286-13] 13.0 ^13.1 ^13.2 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 GONUTS page

[PMID:20016102-14] Grimsley-Myers, CM et al. (2009) The small GTPase Rac1 regulates auditory hair cell morphogenesis. J. Neurosci. 29 15859-69 PubMed GONUTS page

[PMID:12833159-15] 15.0 ^15.1 ^15.2 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 GONUTS page

[PMID:17567809-16] 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 GONUTS page

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MOUSE:WHRN

Contents

Annotations

Notes

References

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