DFNB31

Whirlin is a protein that in humans is encoded by the DFNB31 gene.[5][6][7]

WHRN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesWHRN, CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin
External IDsOMIM: 607928 MGI: 2682003 HomoloGene: 18739 GeneCards: WHRN
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q32Start114,402,080 bp[1]
End114,505,473 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

25861

73750

Ensembl

ENSG00000095397

ENSMUSG00000039137

UniProt

Q9P202

Q80VW5

RefSeq (mRNA)

NM_001083885
NM_001173425
NM_015404
NM_001346890

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 MbChr 4: 63.41 – 63.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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).[8] Mutations in this gene, also known as WHRN, cause autosomal recessive deafness.[7]

Model organisms

Model organisms have been used in the study of WHRN function. A conditional knockout mouse line, called Whrntm1a(EUCOMM)Wtsi[12][13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty tests were carried out on mutant mice and two significant abnormalities were observed.[10] Whrntm1a(EUCOMM)Wtsi homozygote mice show a moderate to severe hearing loss at 14 weeks. Female homozygous mutant animals also displayed an increased thermal nociceptive threshold in a hot plate test.[10]

gollark: Anyway, the generality of this solution and the fact that they'll probably keep the exact details private for "security"-through-obscurity reasons also means that, as I have written here (https://osmarks.net/osbill/) in a blog post tangentially mentioning it, someone could just feed it hashes for, say, anti-government memes and find out who is saving those.
gollark: Although I suppose that *someone* probably keeps the originals around in case they have to change the hashing algorithm.
gollark: It's trickier on images (see how PyroBot does it...) but not impossible. (since you want moderately fuzzy matching, unlike SHA256 and such, which will produce an entirely different hash if a single bit is flipped)
gollark: Through the magic of cryptography, you can condense arbitrarily big files down to a fixed-length fingerprint and check if that matches, with basically-zero false positive risk.
gollark: Hashes of it.

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.
  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.
  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.
  9. "Hot plate data for Whrn". Wellcome Trust Sanger Institute.
  10. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. "International Knockout Mouse Consortium".
  13. "Mouse Genome Informatics".
  14. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  15. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  17. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading
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