Whirlin

WHRN
Identifiers
Aliases	WHRN, CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin
External IDs	OMIM: 607928; MGI: 2682003; GeneCards: WHRN
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1UEZ, 1UF1, 1UFX
Gene location (Human)
Chr.	Chromosome 9 (human)
End	114,505,473 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	63,414,228 bp
RNA expression pattern
	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
	; ;
	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
Databases	NCBI: entry; OMA: entry
	25861
	73750
	ENSG00000095397
	ENSMUSG00000039137
	Q9P202
	Q80VW5
	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
	NP_001077354; NP_001166896; NP_001333819; NP_056219
	NP_001008791; NP_001008792; NP_001008793; NP_001263300; NP_082916
	Wikidata
View/Edit Human	View/Edit Mouse

Whirlin is a protein that in humans is encoded by the WHRN gene (previously DFNB31).

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 2 3 GRCh38: Ensembl release 89: ENSG00000095397 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039137 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: DFNB31 deafness, autosomal recessive 31".
↑ 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.

External links

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

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000095397 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12833159-5] 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.

[pmid17171570-6] 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.

[entrez-7] 1 2 "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.

Whirlin

References

Further reading

External links