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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25861
Gene name Gene Name - the full gene name approved by the HGNC.	Whirlin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WHRN
Synonyms (NCBI Gene) Gene synonyms aliases	CIP98, DFNB31, PDZD7B, USH2D, WI
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q32
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 31	rs869320674, rs776268964, rs137852839	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs1564113368	N/A
Usher Syndrome	Usher syndrome type 2D, usher syndrome	rs137852840, rs2133130286, rs1589229634, rs1306987034, rs137852839	N/A
deafness	Deafness	rs1564113368	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bipolar Disorder	Bipolar disorder	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Retinitis Pigmentosa	Retinitis pigmentosa-deafness syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)