WHRN - whirlin Gene

Also Known as WI; CIP98; USH2D; DFNB31; PDZD7B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25861

About WHRN

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:114,402,080-114,505,473 (from NCBI)

This gene has 10 transcripts (splice variants), 289 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in adrenal (RPKM 14.4), testis (RPKM 9.7) and 18 other tissues.

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-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

WHRN Products (4)

mRNA	Protein	Name
NM_001083885.3	NP_001077354.2	whirlin isoform 2
NM_001173425.2	NP_001166896.1	whirlin isoform 3
NM_001346890.1	NP_001333819.1	whirlin isoform 4 precursor
NM_015404.4	NP_056219.3	whirlin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16434480	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in retina homeostasis	IMP IMP: Inferred from mutant phenotype	17171570	GOA
involved in sensory perception of light stimulus	IMP IMP: Inferred from mutant phenotype	17171570	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	17171570	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16434480	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WHRN Protein Structure

PDZ

0
200
400
600
800
907 a.a.

Protein Preferred Names	Protein Names
whirlin	CASK-interacting protein CIP98

WHRN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	WHRN	Q9P202	BEND7	Homo sapiens	Q8N7W2-2	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	BEND7	Homo sapiens	Q8N7W2-2	Y2H Array	32296183
Intra	WHRN	Q9P202	PXN	Homo sapiens	P49023-2	Y2H Array	32296183
Intra	WHRN	Q9P202	PXN	Homo sapiens	P49023-2	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	TPRN	Homo sapiens	Q4KMQ1-2	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	TPRN	Homo sapiens	Q4KMQ1-2	Y2H Array	32296183
Intra	WHRN	Q9P202	BMI1	Homo sapiens	P35226	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	BMI1	Homo sapiens	P35226	Y2H Array	32296183
Intra	WHRN	Q9P202	COL17A1	Homo sapiens	Q9UMD9	Validated Y2H	32296183
Intra	WHRN	Q9P202	COL17A1	Homo sapiens	Q9UMD9	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	COL17A1	Homo sapiens	Q9UMD9	Y2H Array	32296183
Intra	WHRN	Q9P202	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	WHRN	Q9P202	GPSM2	Homo sapiens	P81274	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	GPSM2	Homo sapiens	P81274	Y2H Array	32296183
Intra	WHRN	Q9P202	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	WHRN	Q9P202	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	EFHC1	Homo sapiens	Q5JVL4	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	EFHC1	Homo sapiens	Q5JVL4	Y2H Array	32296183
Intra	WHRN	Q9P202	KEAP1	Homo sapiens	Q14145	Y2H Array	32296183
Intra	WHRN	Q9P202	KEAP1	Homo sapiens	Q14145	Y2H Prey Pooling	32296183
Intra	WHRN	Q9P202	SPC24	Homo sapiens	Q8NBT2	Y2H Array	32296183
Intra	WHRN	Q9P202	SPC24	Homo sapiens	Q8NBT2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Usher Syndrome, Type Iid	Usher Syndrome Type 2d USH2D Usher Syndrome, Type 2d Usher Syndrome Type Iid Usher Syndrome 2d Usher Syndrome, Type Ii
Deafness, Autosomal Recessive 31	DFNB31 Whirler, Mouse, Homolog Of Autosomal Recessive Nonsyndromic Deafness 31 Autosomal Recessive Deafness 31 Deafness, Autosomal Recessive, 31 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31 Deafness, Autosomal Recessive, Type 31
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Rare Genetic Deafness	Rare Genetic Hearing Loss
Aland Island Eye Disease	AIED Forsius-Eriksson Type Ocular Albinism Forsius-Eriksson Syndrome Autoimmune Inner Ear Disease Forsius Eriksson Type Ocular Albinism Aland Islands Eye Disease Aaland Island Eye Disease Ocular Albinism, Type Ii
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness 3	Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 Dfnb3 Nrsd3 Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 102	DFNB102 Autosomal Recessive Nonsyndromic Deafness 102 Autosomal Recessive Deafness 102 Deafness, Autosomal Recessive, 102 Deafness, Autosomal Recessive, Type 102
Deafness, Autosomal Dominant 56	DFNA56 Autosomal Dominant Nonsyndromic Deafness 56 Autosomal Dominant Deafness 56 Deafness, Autosomal Dominant, 56 Deafness, Autosomal Dominant, Type 56
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Deafness, Autosomal Recessive 57	DFNB57 Autosomal Recessive Nonsyndromic Deafness 57 Autosomal Recessive Deafness 57 Deafness, Autosomal Recessive, 57 Deafness, Autosomal Recessive, Type 57
Autosomal Recessive Nonsyndromic Deafness 36	Autosomal Recessive Deafness 36 Dfnb36 Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement Deafness, Autosomal Recessive 36
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Usher Syndrome, Type Iic	Usher Syndrome Type 2c USH2C Usher Syndrome, Type 2c Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic Usher Syndrome Type Iic Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic Usher Syndrome 2c Usher'S Syndrome Type 2c Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic
Deafness, Autosomal Dominant 11	DFNA11 Autosomal Dominant Nonsyndromic Deafness 11 Autosomal Dominant Deafness 11 Deafness, Autosomal Dominant, 11 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 Deafness, Autosomal Dominant, Type 11
Deafness, Autosomal Recessive 23	DFNB23 Autosomal Recessive Nonsyndromic Deafness 23 Autosomal Recessive Deafness 23 Deafness, Autosomal Recessive, 23 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 Deafness, Autosomal Recessive, Type 23
Deafness, Autosomal Recessive 2	DFNB2 Neurosensory Nonsyndromic Recessive Deafness 2 Nsrd2 Autosomal Recessive Nonsyndromic Deafness 2 Deafness, Autosomal Recessive, Type 2 Autosomal Recessive Deafness 2 Deafness, Autosomal Recessive, 2 Deafness Neurosensory Autosomal Recessive 2 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 Deafness, Autosomal Recessive 2, Neurosensory
Usher Syndrome, Type Ig	Usher Syndrome Type 1g USH1G Usher Syndrome, Type 1g Usher Syndrome Type Ig Usher Syndrome 1g Usher'S Syndrome Type 1g
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Deafness, Autosomal Recessive 18a	Deafness, Autosomal Recessive 18 DFNB18A Dfnb18 Autosomal Recessive Nonsyndromic Deafness 18a Autosomal Recessive Deafness 18a Deafness, Autosomal Recessive, 18a Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18 Deafness, Autosomal Recessive, Type 18a
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Usher Syndrome, Type Ij	Usher Syndrome Type 1j USH1J Usher Syndrome Type Ij Usher Syndrome 1j Usher'S Syndrome Type 1j
Deafness, Autosomal Recessive 30	DFNB30 Autosomal Recessive Nonsyndromic Deafness 30 Autosomal Recessive Deafness 30 Deafness, Autosomal Recessive, 30 Deafness, Autosomal Recessive, Type 30
Deafness, Autosomal Recessive 79	DFNB79 Autosomal Recessive Nonsyndromic Deafness 79 Autosomal Recessive Deafness 79 Deafness, Autosomal Recessive, 79 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79 Deafness, Autosomal Recessive, Type 79
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Cochlear Disease	Cochlear Diseases
Leber Congenital Amaurosis With Early-Onset Deafness	LCAEOD
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Usher Syndrome, Type Ic	USH1C Usher Syndrome Type 1c Usher Syndrome, Type 1c Usher Syndrome Type I Acadian Variety Usher Syndrome Type Ic Usher Syndrome, Type I, Acadian Variety Usher Syndrome 1c Acadian Usher Syndrome Usher'S Syndrome Type 1c
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Deafness, Autosomal Dominant 36	DFNA36 Autosomal Dominant Nonsyndromic Deafness 36 Autosomal Dominant Deafness 36 Deafness, Autosomal Dominant, 36 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 Deafness, Autosomal Dominant, Type 36
Deafness, Autosomal Recessive 67	DFNB67 Autosomal Recessive Nonsyndromic Deafness 67 Autosomal Recessive Deafness 67 Deafness, Autosomal Recessive, 67 Deafness, Autosomal Recessive, Type 67
Deafness, Autosomal Dominant 25	DFNA25 Autosomal Dominant Nonsyndromic Deafness 25 Autosomal Dominant Deafness 25 Deafness, Autosomal Dominant, 25 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25 Deafness, Autosomal Dominant, Type 25
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Deafness, Autosomal Recessive 86	DFNB86 Autosomal Recessive Nonsyndromic Deafness 86 Autosomal Recessive Deafness 86 Deafness, Autosomal Recessive, 86 Deafness, Nonsyndromic, Autosomal Recessive, Type 86
Deafness, Autosomal Recessive 49	DFNB49 Autosomal Recessive Nonsyndromic Deafness 49 Autosomal Recessive Deafness 49 Deafness, Autosomal Recessive, 49 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49 Deafness, Autosomal Recessive, Type 49
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome	Door Syndrome Doors Syndrome Digitorenocerebral Syndrome Autosomal Recessive Deafness-Onychodystrophy Syndrome Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome DOORS Drc Syndrome Eronen Syndrome Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Brachydactyly Due To Absence Of Distal Phalanges Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome Deafness, Congenital Onychodystrophy, Recessive Form Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
Usher Syndrome, Type Id	Usher Syndrome Type 1d USH1D Usher Syndrome, Type 1d Usher Syndrome Type Id Usher Syndrome, Type Id/F, Digenic Usher Syndrome, Type 1d/F Digenic Usher Syndrome 1d Usher'S Syndrome Type 1d Usher Syndrome 1d/F USH1DF Ush1d/F Usher'S Syndrome Type 1h Usher Syndrome 1h Usher Syndrome Type Ih Usher Syndrome, Type 1d/F
Waardenburg Syndrome, Type 1	Waardenburg Syndrome Type 1 WS1 Waardenburg Syndrome Type I Waardenburg Syndrome With Dystopia Canthorum Waardenburg'S Syndrome Type 1 Waardenburg Syndrome 1 Waardenburg Syndrome, Type I Waardenburg Syndrome
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Eye Degenerative Disease
Bardet-Biedl Syndrome 1	BBS1 Bardet-Biedl Syndrome 1, Modifier Of Bardet-Biedl Syndrome BBS Bardet-Biedl Syndrome, Type 1 Laurence-Moon-Bardet-Biedl Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15815	WHRN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	WHRN	VGNC	VGNC:48408
Mus musculus	WHRN	MGD	MGI:2682003
Felis catus	WHRN	VGNC	VGNC:82331
Bos taurus	WHRN	VGNC	VGNC:36937
Rattus norvegicus	WHRN	RGD	RGD:631330
Macaca mulatta	WHRN	VGNC	VGNC:79030
Others	WHRN	NCBI