OTX2

OTX2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2DMS
Dynodwyr
Cyfenwau	OTX2, CPHD6, MCOPS5, Orthodenticle homeobox 2
Dynodwyr allanol	OMIM: 600037 HomoloGene: 11026 GeneCards: OTX2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001948, GO:0016582 protein binding • eukaryotic initiation factor 4E binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • growth cone • cnewyllyn cell • GO:0009327 protein-containing complex Prosesau biolegol • dopaminergic neuron differentiation • GO:0009373 regulation of transcription, DNA-templated • positive regulation of gastrulation • regulation of fibroblast growth factor receptor signaling pathway • axon guidance • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • multicellular organism development • regulation of smoothened signaling pathway • forebrain development • positive regulation of embryonic development • primitive streak formation • midbrain development • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • transcription by RNA polymerase II • GO:0034622 protein-containing complex assembly Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5015	n/a
Ensembl	ENSG00000165588	n/a
UniProt	P32243	n/a
RefSeq (mRNA)	NM_001270523 NM_001270524 NM_001270525 NM_021728 NM_172337	n/a
RefSeq (protein)	NP_001257452 NP_001257453 NP_001257454 NP_068374 NP_758840	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn OTX2 yw OTX2 a elwir hefyd yn Orthodenticle homeobox 2 (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 14q22.3.^[2]

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 OTX2.

• CPHD6
• MCOPS5

• "Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. ". Ophthalmic Genet. 2017. PMID 28388256.
• "OTX2 Activity at Distal Regulatory Elements Shapes the Chromatin Landscape of Group 3 Medulloblastoma. ". Cancer Discov. 2017. PMID 28213356.
• "OTX2 Defines a Subgroup of Atypical Teratoid Rhabdoid Tumors With Close Relationship to Choroid Plexus Tumors. ". J Neuropathol Exp Neurol. 2017. PMID 28025236.
• "Mandibular dysostosis without microphthalmia caused by OTX2 deletion. ". Am J Med Genet A. 2016. PMID 27378064.
• "A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.". Horm Res Paediatr. 2016. PMID 27299576.