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DFNB31

From Wikipedia, the free encyclopedia
(Redirected from DFNB31 (gene))
WHRN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesWHRN, CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin
External IDsOMIM: 607928; MGI: 2682003; HomoloGene: 18739; GeneCards: WHRN; OMA:WHRN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 63.33 – 63.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000095397Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039137Ensembl, 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. ^ a b "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

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