COCH

COCH
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1JBI
Dynodwyr
Cyfenwau	COCH, COCH-5B2, COCH5B2, DFNA9, cochlin, DFNB110
Dynodwyr allanol	OMIM: 603196 HomoloGene: 20868 GeneCards: COCH
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • collagen binding Cydrannau o'r gell • GO:0005578 extracellular matrix • extracellular region • collagen-containing extracellular matrix • extracellular space Prosesau biolegol • clyw • defense response to bacterium • regulation of cell shape • positive regulation of innate immune response • growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1690	n/a
Ensembl	ENSG00000100473	n/a
UniProt	O43405	n/a
RefSeq (mRNA)	NM_001135058 NM_004086 NM_001347720	n/a
RefSeq (protein)	NP_001128530 NP_001334649 NP_004077	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 COCH yw COCH a elwir hefyd yn Cochlin (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 14, band 14q12.

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 COCH.

• DFNA9
• COCH5B2
• COCH-5B2

Llyfryddiaeth

• "Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. ". Neural Plast. 2016. PMID 28116169.
• "Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. ". PLoS One. 2017. PMID 28099493.
• "Distinct vestibular phenotypes in DFNA9 families with COCH variants. ". Eur Arch Otorhinolaryngol. 2016. PMID 26758463.
• "A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ". Biochem Biophys Res Commun. 2016. PMID 26631968.
• "Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.". Hum Mutat. 2015. PMID 26256111.