WHRN

WHRN
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1UEZ, 1UF1, 1UFX
Dynodwyr
Cyfenwau	WHRN, CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin
Dynodwyr allanol	OMIM: 607928 HomoloGene: 18739 GeneCards: WHRN
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • protein homodimerization activity • protein heterodimerization activity Cydrannau o'r gell • cytoplasm • growth cone • cell projection • stereocilium • photoreceptor inner segment • stereocilia ankle link • stereocilia ankle link complex • Microffilament • cilium • photoreceptor connecting cilium • stereocilium bundle • stereocilium tip • ciliary basal body • periciliary membrane compartment • USH2 complex • Cellbilen • neuronal cell body • cell junction • synapse Prosesau biolegol • retina homeostasis • sensory perception of light stimulus • sensory perception of sound • inner ear receptor cell stereocilium organization • GO:1901313 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
Orthologau
Species	Bod dynol	Llygoden
Entrez	25861	n/a
Ensembl	ENSG00000095397	n/a
UniProt	Q9P202	n/a
RefSeq (mRNA)	NM_001083885 NM_001173425 NM_015404 NM_001346890	n/a
RefSeq (protein)	NP_001077354 NP_001166896 NP_001333819 NP_056219	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn WHRN yw WHRN a elwir hefyd yn Whirlin a Deafness, autosomal recessive 31, isoform CRA_a (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 9, band 9q32.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn WHRN.

• WI
• CIP98
• USH2D
• DFNB31
• PDZD7B

Llyfryddiaeth

• "The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. ". Mol Vis. 2013. PMID 23441107.
• "A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. ". Mol Vis. 2011. PMID 21738389.
• "Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. ". Mol Vis. 2010. PMID 20352026.
• "Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients. ". Int J Oncol. 2009. PMID 19724906.
• "DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.". Eur J Hum Genet. 2002. PMID 11973626.