Aliases for WHRN Gene
Aliases for WHRN Gene
External Ids for WHRN Gene
- HGNC: 16361
- Entrez Gene: 25861
- Ensembl: ENSG00000095397
- OMIM: 607928
- UniProtKB: Q9P202
Previous HGNC Symbols for WHRN Gene
- DFNB31
Summaries for WHRN 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-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
GeneCards Summary for WHRN Gene
WHRN (Whirlin) is a Protein Coding gene. Diseases associated with WHRN include Deafness, Autosomal Recessive 31 and Usher Syndrome, Type Iid. An important paralog of this gene is PDZD7.
UniProtKB/Swiss-Prot for WHRN Gene
-
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.
Additional gene information for WHRN Gene
- Monarch Initiative
- Search for WHRN at DataMed
- Search for WHRN at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WHRN Gene
Genomics for WHRN Gene
GeneHancer (GH) Regulatory Elements for WHRN Gene
Regulatory Element Products
Genomic Locations for WHRN Gene
- chr9:114,402,078-114,505,509
- (GRCh38/hg38)
- Size:
- 103,432 bases
- Orientation:
- Minus strand
- chr9:117,164,360-117,267,736
- (GRCh37/hg19)
Genomic View for WHRN Gene
- Cytogenetic band:
-
- 9q32 by Ensembl
- 9q32 by Entrez Gene
- 9q32 by HGNC


RefSeq DNA sequence for WHRN Gene
Proteins for WHRN Gene
-
Protein details for WHRN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P202-WHRN_HUMAN
- Recommended name:
- Whirlin
- Protein Accession:
- Q9P202
- A5PKU1
- A5PKZ9
- Q5TAU9
- Q5TAV0
- Q5TAV1
- Q5TAV2
- Q96MZ9
- Q9H9F4
- Q9UFZ3
Protein attributes for WHRN Gene
- Size:
- 907 amino acids
- Molecular mass:
- 96586 Da
- Quaternary structure:
-
- Forms homooligomers (By similarity). Interacts with USH2A (PubMed:16434480). Interacts with GPR98/MASS1 (PubMed:16434480). Interacts (via C-terminal PDZ domain) with MPP1/p55 (PubMed:17584769). Interacts with CIB2 (PubMed:23023331). Interacts (via C-terminal PDZ domain) with MYO15A; this interaction is necessary for localization of WHRN to stereocilia tips. Interacts with LRRC4C/NGL1. Interacts with MYO7A. Interacts with RPGR. Interacts with EPS8. Interacts with CASK (By similarity).
- SequenceCaution:
-
- Sequence=BAA96050.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Post-translational modifications for WHRN Gene
Other Protein References for WHRN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Assay Products
No data available for DME Specific Peptides for WHRN Gene
Domains & Families for WHRN Gene
Gene Families for WHRN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Suggested Antigen Peptide Sequences for WHRN Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for WHRN Gene
Function for WHRN Gene
Molecular function for WHRN Gene
- UniProtKB/Swiss-Prot Function:
- Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.
Phenotypes From GWAS Catalog for WHRN Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17584769 |
GO:0042803 | protein homodimerization activity | IEA | -- |
GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for WHRN Gene
- MGI mutant phenotypes for WHRN:
-
inferred from 5 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- immune system phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for WHRN:
Animal Models for WHRN Gene
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WHRN Gene
Localization for WHRN Gene
Subcellular locations from UniProtKB/Swiss-Prot for WHRN Gene
- Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Note=Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). {ECO:0000250, ECO:0000269 PubMed:17584769}.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001917 | photoreceptor inner segment | IEA | -- |
GO:0002141 | stereocilia ankle link | IEA | -- |
GO:0002142 | stereocilia ankle link complex | IEA | -- |
GO:0005737 | cytoplasm | IDA | 16434480 |
GO:0005884 | actin filament | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for WHRN Gene
Pathways & Interactions for WHRN Gene
Interacting Proteins for WHRN Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001895 | retina homeostasis | IMP | 17171570 |
GO:0007605 | sensory perception of sound | IMP | 17171570 |
GO:0010628 | positive regulation of gene expression | IEA | -- |
GO:0021694 | cerebellar Purkinje cell layer formation | IEA | -- |
GO:0045184 | establishment of protein localization | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for WHRN Gene
Transcripts for WHRN Gene
mRNA/cDNA for WHRN Gene
- (14) REFSEQ mRNAs :
- (96) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
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-
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- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 163 available DFNB31 gene related products
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Expression for WHRN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
- Eye (Sensory Organs)
NURSA nuclear receptor signaling pathways regulating expression of WHRN Gene:
WHRNEvidence on tissue expression from TISSUES for WHRN Gene
- Nervous system(4.9)
Phenotype-based relationships between genes and organs from Gene ORGANizer for WHRN Gene
- ectoderm
- endoderm
- mesoderm
- immune
- nervous
- skeletal muscle
- skeleton
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- inner ear
- middle ear
- outer ear
- skull
- peripheral nerve
- peripheral nervous system
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-
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No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for WHRN Gene
Orthologs for WHRN Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DFNB31 34 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | DFNB31 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | DFNB31 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Dfnb31 33 |
|
||
mouse (Mus musculus) |
Mammalia | Whrn 16 34 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | DFNB31 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | DFNB31 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DFNB31 34 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | DFNB31 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | dfnb31 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32716 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC100334777 33 |
|
||
dfnb31a 34 |
|
OneToMany | |||
dfnb31b 34 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | dysc 34 |
|
OneToMany |
- Species where no ortholog for WHRN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for WHRN Gene
Variants for WHRN Gene
SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1005844900 | uncertain-significance, Nonsyndromic Hearing Loss, Recessive, Retinitis pigmentosa-deafness syndrome | 114,505,382(-) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant | |
rs1030607999 | uncertain-significance, Nonsyndromic Hearing Loss, Recessive, Retinitis pigmentosa-deafness syndrome | 114,505,284(-) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant | |
rs10759714 | likely-benign, Nonsyndromic Hearing Loss, Recessive, Retinitis pigmentosa-deafness syndrome | 114,505,311(-) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant | |
rs111033459 | conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, Retinitis pigmentosa-deafness syndrome, Nonsyndromic Hearing Loss, Recessive | 114,424,385(-) | A/G | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
rs117352600 | benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive, Retinitis pigmentosa-deafness syndrome | 114,424,398(-) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12859n54 | CNV | gain | 21841781 |
dgv33e196 | CNV | duplication | 17116639 |
dgv7706n100 | CNV | gain | 25217958 |
dgv948n27 | CNV | gain | 19166990 |
esv2677969 | CNV | deletion | 23128226 |
esv27525 | CNV | gain | 19812545 |
esv2762830 | CNV | loss | 21179565 |
esv3573365 | CNV | loss | 25503493 |
esv3621558 | CNV | loss | 21293372 |
esv3621559 | CNV | loss | 21293372 |
nsv1110055 | CNV | deletion | 24896259 |
nsv615233 | CNV | gain | 21841781 |
nsv615248 | CNV | loss | 21841781 |
nsv6678 | CNV | insertion | 18451855 |
nsv831693 | CNV | gain | 17160897 |
Additional Variant Information for WHRN Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WHRN Gene
Disorders for WHRN Gene

(14) MalaCards diseases for WHRN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 31 |
|
|
usher syndrome, type iid |
|
|
usher syndrome type 2 |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
usher syndrome |
|
|
UniProtKB/Swiss-Prot
WHRN_HUMAN- Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:11973626, ECO:0000269 PubMed:12833159, ECO:0000269 PubMed:15841483}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Usher syndrome 2D (USH2D) [MIM:611383]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269 PubMed:17171570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for WHRN
No data available for Genatlas for WHRN Gene
Publications for WHRN Gene
- A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. (PMID: 17171570) Ebermann I … Bolz H (Human genetics 2007) 2 3 4 22 58
- Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. (PMID: 12833159) Mburu P … Brown SD (Nature genetics 2003) 2 3 4 22 58
- The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. (PMID: 16434480) van Wijk E … Kremer H (Human molecular genetics 2006) 3 4 22 58
- Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (PMID: 23023331) Riazuddin S … Ahmed ZM (Nature genetics 2012) 3 4 58
- Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. (PMID: 20352026) Aller E … Millán JM (Molecular vision 2010) 3 22 58
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
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Sources for WHRN Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
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- (128) ViGene Biosciences
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew