Mouse Gene Whrn (ENSMUST00000119294.7) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
Description: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. (from UniProt Q80VW5) RefSeq Summary (NM_028640): This gene encodes a protein required for elongation and actin polymerization in the hair cell stereocilia. The encoded protein is localized to the cytoplasm and co-localizes with the growing end of actin filaments. Mutations in this gene have been linked to deafness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]. Gencode Transcript: ENSMUST00000119294.7 Gencode Gene: ENSMUSG00000039137.18 Transcript (Including UTRs) Position: mm10 chr4:63,414,910-63,495,951 Size: 81,042 Total Exon Count: 8 Strand: - Coding Region Position: mm10 chr4:63,415,484-63,432,757 Size: 17,274 Coding Exon Count: 7
ID:WHRN_MOUSE DESCRIPTION: RecName: Full=Whirlin; FUNCTION: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. SUBUNIT: Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1. SUBCELLULAR LOCATION: Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Note=Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Co-localizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). TISSUE SPECIFICITY: Detected in the inner ear throughout development from embryonic day 12 to 20 days after birth. Displays a dynamic pattern of expression after birth, demonstrating an ordered appearance and fade-out across stereocilia rows. DEVELOPMENTAL STAGE: Expression decreases by 11 days after birth in inner ear hair cells and by 14 days after birth in outer ear hair cells. Expressed in vestibular hair cells at high levels through to adulthood. DISEASE: Note=Defects in Whrn are the cause of the phenotype whirler (wi). Mutants are characterized by deafness due to malformation of the cochlear inner and outer hair cells and by circling behavior. Stereocilia are shorter and wider than in wild- type animals and there is a decrease in the number of actin filaments in inner and outer hair cells. The number of outer hair cell stereocilia is reduced with increased spacing between them. SIMILARITY: Contains 3 PDZ (DHR) domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q80VW5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0019904 protein domain specific binding GO:0042803 protein homodimerization activity GO:0046982 protein heterodimerization activity
Biological Process: GO:0001895 retina homeostasis GO:0007605 sensory perception of sound GO:0010628 positive regulation of gene expression GO:0021694 cerebellar Purkinje cell layer formation GO:0045184 establishment of protein localization GO:0050953 sensory perception of light stimulus GO:0060088 auditory receptor cell stereocilium organization GO:0060122 inner ear receptor stereocilium organization GO:1990227 paranodal junction maintenance
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