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
	5015
	n/a
	ENSG00000165588
	n/a
	P32243
	n/a
	NM_001270523; NM_001270524; NM_001270525; NM_021728; NM_172337
	n/a
	NP_001257452; NP_001257453; NP_001257454; NP_068374; NP_758840
	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]

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 OTX2.

CPHD6
MCOPS5

Llyfryddiaeth

"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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] OTX2 - Cronfa NCBI

[1]

[2]