DFNB31

Protein-coding gene in the species Homo sapiens
WHRN
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1UEZ, 1UF1, 1UFX

Identifiers
AliasesWHRN, CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin
External IDsOMIM: 607928; MGI: 2682003; HomoloGene: 18739; GeneCards: WHRN; OMA:WHRN - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for WHRN
Genomic location for WHRN
Band9q32Start114,402,080 bp[1]
End114,505,473 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for WHRN
Genomic location for WHRN
Band4 B3|4 33.97 cMStart63,333,147 bp[2]
End63,414,228 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
  • neuronal cell body
  • 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
SpeciesHumanMouse
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 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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000095397 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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

  • 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
  • v
  • t
  • e
  • 1uez: Solution structure of the first PDZ domain of human KIAA1526 protein
    1uez: Solution structure of the first PDZ domain of human KIAA1526 protein
  • 1uf1: Solution structure of the second PDZ domain of human KIAA1526 protein
    1uf1: Solution structure of the second PDZ domain of human KIAA1526 protein
  • 1ufx: Solution structure of the third PDZ domain of human KIAA1526 protein
    1ufx: Solution structure of the third PDZ domain of human KIAA1526 protein