Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	25861
Gene name	Whirlin
Gene symbol	WHRN
Synonyms (NCBI Gene)	CIP98DFNB31PDZD7BUSH2DWI
Chromosome	9
Chromosome location	9q32
Summary	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-syndromi

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111033459	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs137852839	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs137852840	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant
rs141807746	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs142990800	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs150146590	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs150586098	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs187221008	A>T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant, genic downstream transcript variant
rs200131193	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373552185	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs397517255	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs397517258	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs572671060	C>A,G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs749910508	C>-	Likely-pathogenic	5 prime UTR variant, splice donor variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs776268964	G>A,C,T	Pathogenic	Upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs779760634	C>T	Pathogenic	Intron variant, splice acceptor variant
rs869320674	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1064794551	->C	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1306987034	C>-,CC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1564113368	CG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1589229634	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, frameshift variant

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001895	Process	Retina homeostasis	IEA
GO:0001895	Process	Retina homeostasis	IMP	17171570
GO:0001895	Process	Retina homeostasis	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0002141	Component	Stereocilia ankle link	IEA
GO:0002141	Component	Stereocilia ankle link	ISS
GO:0002142	Component	Stereocilia ankle link complex	IBA
GO:0002142	Component	Stereocilia ankle link complex	IEA
GO:0002142	Component	Stereocilia ankle link complex	ISS
GO:0005515	Function	Protein binding	IPI	16434480, 17584769, 23023331, 32296183
GO:0005737	Component	Cytoplasm	IDA	16434480
GO:0005737	Component	Cytoplasm	IEA
GO:0005884	Component	Actin filament	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	17171570
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0021694	Process	Cerebellar Purkinje cell layer formation	IEA
GO:0030426	Component	Growth cone	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032421	Component	Stereocilium bundle	IEA
GO:0032426	Component	Stereocilium tip	IBA
GO:0032426	Component	Stereocilium tip	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045184	Process	Establishment of protein localization	ISS
GO:0045202	Component	Synapse	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	ISS
GO:0050953	Process	Sensory perception of light stimulus	IMP	17171570
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IBA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060113	Process	Inner ear receptor cell differentiation	NAS	25406310
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	ISS
GO:1990075	Component	Periciliary membrane compartment	IEA
GO:1990075	Component	Periciliary membrane compartment	ISS
GO:1990227	Process	Paranodal junction maintenance	IEA
GO:1990696	Component	USH2 complex	IEA
GO:1990696	Component	USH2 complex	ISS

MIM	HGNC	e!Ensembl
607928	16361	ENSG00000095397

Q9P202

Protein name

Whirlin (Autosomal recessive deafness type 31 protein)

Protein function

Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region,

PDB

1UEZ , 1UF1 , 1UFX , 6KZ1 , 7EP7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	140 → 219	PDZ domain	Domain
PF00595	PDZ	279 → 357	PDZ domain	Domain
PF00595	PDZ	816 → 890	PDZ domain	Domain

Sequence

MNAPLDGLSVSSSSTGSLGSAAGAGGGGGAGLRLLSANVRQLHQALTALLSEAEREQFTH
CLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATT
PYRQPAWGGPDSAGPGEVRLVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKE
GLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIPGGYVTNHIYTWVDPQ
GRSISPPSGLPQPHGGALRQQEGDRRSTLHLLQGGDEKKVNLVLGDGRSLGLTIRGGAEY
GLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRLLKSSRHLILTVKDVG
RLPHARTTVDETKWIASSRIRETMANSAGFLGDLTTEGINKPGFYKGPAGSQVTLSSLGN
QTRVLLEEQARHLLNEQEHATMAYYLDEYRGGSVSVEALVMALFKLLNTHAKFSLLSEVR
GTISPQDLERFDHLVLRREIESMKARQPPGPGAGDTYSMVSYSDTGSSTGSHGTSTTVSS
ARNTLDLEETGEAVQGNINALPDVSVDDVRSTSQGLSSFKPLPRPPPLAQGNDLPLGQPR
KLGREDLQPPSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPS
SKRPLDAHLALVNQHPIGPFPRVQSPPHLKSPSAEATVAGGCLLPPSPSGHPDQTGTNQH
FVMVEVHRPDSEPDVNEVRALPQTRTASTLSQLSDSGQTLSEDSGVDAGEAEASAPGRGR
QSVSTKSRSSKELPRNERPTDGANKPPGLLEPTSTLVRVKKSAATLGIAIEGGANTRQPL
PRIVTIQRGGSAHNCGQLKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFLV
TEFNVML

Sequence length

907

Interactions

View interactions

400

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 31	Pathogenic; Likely pathogenic	rs137852839, rs779760634, rs869320674, rs1064794551, rs776268964, rs372472927	RCV000002808 RCV005042392 RCV000190401 RCV002496863 RCV000770887 RCV005047031
Deafness	Likely pathogenic; Pathogenic	rs1564113368	RCV000679848
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1564113368	RCV001291498
Hepatocellular carcinoma	Likely pathogenic	rs749910508	RCV005869537
Rare genetic deafness	Pathogenic	rs397517255, rs397517258	RCV000038863 RCV000038897
Usher syndrome	Likely pathogenic; Pathogenic	rs751838091, rs137852839, rs2491530582	RCV003155844 RCV003226155 RCV003389553
Usher syndrome type 2D	Pathogenic; Likely pathogenic	rs137852839, rs137852840, rs2133130286, rs779760634, rs760261757, rs2491523011, rs1589229634, rs1306987034, rs1064794551, rs372472927	RCV005411277 RCV000002809 RCV000002810 RCV005042392 RCV003225602 RCV003984994 RCV000024377 RCV000024378 RCV002496863 RCV005047031

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs34963246	RCV005890036
Aland island eye disease	Uncertain significance	rs150146590	RCV000787901
Cervical cancer	Benign	rs10122624	RCV005921734
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs187221008	RCV005888313
Colorectal cancer	Benign	rs34963246	RCV005890039
Hearing impairment	Likely benign; Uncertain significance	rs148971049, rs748546471, rs147283064, rs139279977	RCV001375202 RCV001375419 RCV001375239 RCV001375279
Lung cancer	Benign; Uncertain significance	rs10122624, rs373754936	RCV005921737 RCV005909174
Lymphoma	Conflicting classifications of pathogenicity	rs187221008	RCV005888315
Malignant lymphoma, large B-cell, diffuse	Benign	rs34963246	RCV005890038
Malignant tumor of urinary bladder	Uncertain significance	rs1250528376	RCV005922780
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs187221008	RCV005888311
Optic atrophy	Uncertain significance	rs55749855	RCV004816366
Ovarian cancer	Conflicting classifications of pathogenicity	rs187221008	RCV005888312
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs10122624, rs187221008, rs73555447	RCV005921735 RCV005888316 RCV005900476
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs187221008, rs150586098, rs142653982, rs368141295, rs201555289, rs150146590, rs772432304, rs372265292, rs533374297	RCV000225418 RCV004816260 RCV004816313 RCV000225567 RCV004814959 RCV004817963 RCV004813624 RCV004813647 RCV004813824
Retinitis pigmentosa-deafness syndrome	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs886063369, rs150944893, rs4978584, rs12339210, rs2274158, rs45527543	RCV000267752 RCV000321524 RCV000347007 RCV000280917 RCV000391015 RCV000988244
Sarcoma	Conflicting classifications of pathogenicity	rs187221008	RCV005888314
Thymoma	Benign; Conflicting classifications of pathogenicity	rs10122624, rs200131193	RCV005921736 RCV005889713
Uterine carcinosarcoma	Benign	rs4527950, rs34963246	RCV005900477 RCV005890040
Uveal melanoma	Benign	rs34963246	RCV005890037
WHRN-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs376355638, rs147952299, rs151112714, rs777975664, rs41297175, rs142990800, rs150586098, rs142568702, rs187221008, rs182072601, rs369316074, rs373552185, rs139279977, rs567684055, rs143443833 View all (9 more)	RCV003973253 RCV004758168 RCV003930954 RCV003931005 RCV004757967 RCV003907468 RCV003917536 RCV003927500 RCV004757965 RCV004757964 RCV003936537 RCV003947539 RCV003947558 RCV003963350 RCV003937823 RCV003917893 RCV003940063 RCV004758006 RCV003932510 RCV003921713 RCV004757957 RCV003975338 RCV003906032 RCV003953560

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Blindness	Associate	30053338
Cone Rod Dystrophies	Associate	21738389
Deafness	Associate	21738389
Deafness Autosomal Recessive	Associate	29270100
Deafness Autosomal Recessive 31	Associate	20352026
Death	Associate	29270100
Hearing Loss	Associate	21738389, 34194829
Hemochromatosis	Associate	29270100
Long QT Syndrome	Associate	29270100
Nonsyndromic Deafness	Associate	20352026, 26561413, 30053338
Nonsyndromic sensorineural hearing loss	Associate	34194829
Retinitis Pigmentosa	Associate	34194829
Syndrome	Associate	18854872
Usher Syndrome Type IF	Associate	21738389, 23441107
Usher Syndromes	Associate	20352026, 21738389, 25404053, 26338283, 29142287, 30053338

WHRN (whirlin)