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WHRN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UEZ, 1UF1, 1UFX
Identifiers
Aliases	WHRN, CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin
External IDs	OMIM: 607928; MGI: 2682003; HomoloGene: 18739; GeneCards: WHRN; OMA:WHRN - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q32 Start 114,402,080 bp End 114,505,473 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 B3|4 33.97 cM Start 63,333,147 bp End 63,414,228 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland left adrenal cortex left testis right testis Pituitary Gland right uterine tube anterior pituitary C1 segment body of uterus Top expressed in neural layer of retina lumbar subsegment of spinal cord interventricular septum visual cortex primary visual cortex tail of embryo thymus superior frontal gyrus cerebellar cortex Rostral migratory stream More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein homodimerization activity protein heterodimerization activity Cellular component cytoplasm growth cone cell projection stereocilium photoreceptor inner segment stereocilia ankle link stereocilia ankle link complex actin filament cilium photoreceptor connecting cilium stereocilium bundle stereocilium tip ciliary basal body periciliary membrane compartment USH2 complex plasma membrane soma cell junction synapse Biological process retina homeostasis sensory perception of light stimulus hearing inner ear receptor cell stereocilium organization positive regulation of gene expression cerebellar Purkinje cell layer formation establishment of protein localization auditory receptor cell stereocilium organization paranodal junction maintenance detection of mechanical stimulus involved in sensory perception of sound Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25861 73750 Ensembl ENSG00000095397 ENSMUSG00000039137 UniProt Q9P202 Q80VW5 RefSeq (mRNA) NM_001083885 NM_001173425 NM_015404 NM_001346890 NM_001008791 NM_001008792 NM_001008793 NM_001008794 NM_001008795 NM_001008796 NM_001008797 NM_001008798 NM_001276371 NM_028640 RefSeq (protein) NP_001077354 NP_001166896 NP_001333819 NP_056219 NP_001008791 NP_001008792 NP_001008793 NP_001263300 NP_082916 Location (UCSC) Chr 9: 114.4 – 114.51 Mb Chr 4: 63.33 – 63.41 Mb PubMed search
Wikidata
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Whirlin is a protein that in humans is encoded by the DFNB31 gene.

In rat brain, WHRN interacts with a calmodulin-dependent serine kinase, CASK, and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS). Mutations in this gene, also known as WHRN, cause autosomal recessive deafness.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000095397 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000039137 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD (Aug 2003). "Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31". Nat Genet. 34 (4): 421–8. doi:10.1038/ng1208. PMID 12833159. S2CID 39603776.
6. Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H (Mar 2007). "A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss". Hum Genet. 121 (2): 203–11. doi:10.1007/s00439-006-0304-0. PMID 17171570. S2CID 22632047.
7. ^ "Entrez Gene: DFNB31 deafness, autosomal recessive 31".
8. Yap CC, Liang F, Yamazaki Y, et al. (2003). "CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase". J. Neurochem. 85 (1): 123–34. doi:10.1046/j.1471-4159.2003.01647.x. PMID 12641734. S2CID 46526881.

Further reading

• Holm G, Björkholm M, Mellstedt H, Johansson B (1976). "Cytotoxic activity of lymphocytes from patients with Hodgkin's disease". Clin. Exp. Immunol. 21 (3): 376–83. PMC 1538308. PMID 1081933.
• Nagase T, Kikuno R, Ishikawa K, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (2): 143–50. doi:10.1093/dnares/7.2.143. PMID 10819331.
• Mustapha M, Chouery E, Chardenoux S, et al. (2002). "DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34". Eur. J. Hum. Genet. 10 (3): 210–2. doi:10.1038/sj.ejhg.5200780. PMID 11973626.
• Nakayama M, Kikuno R, Ohara O (2003). "Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• van Wijk E, van der Zwaag B, Peters T, et al. (2006). "The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1". Hum. Mol. Genet. 15 (5): 751–65. doi:10.1093/hmg/ddi490. PMID 16434480.

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II

• Genes on human chromosome 9
• Genes mutated in mice