CHD8

CHD8
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2CKA, 2DL6
Dynodwyr
Cyfenwau	CHD8, AUTS18, HELSNF1, chromodomain helicase DNA binding protein 8, IDDAM
Dynodwyr allanol	OMIM: 610528 HomoloGene: 72405 GeneCards: CHD8
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • nucleotide binding • ATP-dependent activity, acting on DNA • GO:0008026 helicase activity • chromatin binding • methylated histone binding • hydrolase activity, acting on acid anhydrides • GO:0004003 DNA helicase activity • GO:0001948, GO:0016582 protein binding • hydrolase activity • ATP binding • p53 binding • beta-catenin binding • GO:0031493 histone binding • armadillo repeat domain binding Cydrannau o'r gell • nucleoplasm • MLL1 complex • cnewyllyn cell • GO:0009327 protein-containing complex Prosesau biolegol • GO:0009373 regulation of transcription, DNA-templated • GO:1901227 negative regulation of transcription by RNA polymerase II • Wnt signaling pathway • transcription, DNA-templated • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • brain development • digestive tract development • positive regulation of transcription by RNA polymerase III • negative regulation of canonical Wnt signaling pathway • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • DNA duplex unwinding • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization • negative regulation of Wnt signaling pathway • GO:0045996 negative regulation of transcription, DNA-templated • canonical Wnt signaling pathway • negative regulation of apoptotic process • in utero embryonic development • startle response • social behavior • prepulse inhibition • negative regulation of fibroblast apoptotic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	57680	n/a
Ensembl	ENSG00000100888	n/a
UniProt	Q9HCK8	n/a
RefSeq (mRNA)	NM_020920 NM_001170629	n/a
RefSeq (protein)	NP_001164100 NP_065971	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 CHD8 yw CHD8 a elwir hefyd yn Chromodomain helicase DNA binding protein 8 (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 14, band 14q11.2.

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 CHD8.

• AUTS18
• HELSNF1

Llyfryddiaeth

• "The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes. ". Transl Psychiatry. 2015. PMID 25989142.
• "The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. ". Nat Commun. 2015. PMID 25752243.
• "CHD8 intragenic deletion associated with autism spectrum disorder. ". Eur J Med Genet. 2016. PMID 26921529.
• "A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. ". Am J Med Genet A. 2016. PMID 26789910.
• "Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.". Front Neurosci. 2015. PMID 26733790.