Official symbol | OTX2 |
Gene id | 5015 |
Organism | Homo sapiens |
Official full symbol | orthodenticle homeobox 2 |
Gene type | protein-coding |
Also known as | CPHD6, MCOPS5 |
Summary | This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. |
Genomic regions | Chromosome 14 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
OTX2-209 | ENST00000672264.2 | 3011 | 297aa | Protein coding | CCDS9728 | P32243-2 | NM_021728.4 | GENCODE basic, MANE Select v0.92, |
OTX2-201 | ENST00000339475.10 | 2956 | 289aa | Protein coding | CCDS41960 | P32243-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
OTX2-211 | ENST00000673481.1 | 2240 | 297aa | Protein coding | CCDS9728 | P32243-2 | - | GENCODE basic, |
OTX2-210 | ENST00000673035.1 | 2154 | 289aa | Protein coding | CCDS41960 | P32243-1 | - | GENCODE basic, APPRIS P1, |
OTX2-202 | ENST00000408990.8 | 2109 | 289aa | Protein coding | CCDS41960 | P32243-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
OTX2-206 | ENST00000555006.5 | 1279 | 289aa | Protein coding | CCDS41960 | P32243-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
OTX2-208 | ENST00000672125.1 | 1850 | 168aa | Protein coding | - | A0A5F9ZHY1 | - | GENCODE basic, |
OTX2-205 | ENST00000554845.1 | 908 | 238aa | Protein coding | - | G3V3P9 | - | CDS 3' incomplete, TSL:1, |
OTX2-204 | ENST00000554788.5 | 835 | 35aa | Protein coding | - | F1T0C9 | - | TSL:1, GENCODE basic, |
OTX2-207 | ENST00000555804.1 | 797 | 163aa | Protein coding | - | G3V3J3 | - | CDS 3' incomplete, TSL:4, |
OTX2-203 | ENST00000554559.5 | 715 | 35aa | Protein coding | - | F1T0C9 | - | TSL:5, GENCODE basic, |
Target Gene | OTX2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene OTX2 had been KO in hela cell line. |
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