OTX2
Information OTX2
- Description
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. [provided by RefSeq, Jul 2012]
- Full Name
orthodenticle homeobox 2
Source NCBI
- Species
Homo sapiens [tax_id: 9606]
- Genome
hg38
ReMap Statistics
- Datasets
- 2
- Biotypes
- 1
- Peaks
- 53,739
- Non-redundant peaks
- 52,071
TF Classification
- Super Class
- Helix-turn-helix domains
- Class
- Homeo domain factors
- Familly
- Paired-related HD factors
- Sub Familly
- OTX
Source TFClass
External IDs
- NCBI Gene
- 5015
- Official Gene Name
- OTX2
- JASPAR
- MA0712
- Ensembl
- ENSG00000165588
- UniProt
- P32243
- Genevisible
- P32243
- RefSeq
- NM_001270523
- Aliases
- CPHD6; MCOPS5
Datasets Table for OTX2
Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |
---|---|---|---|---|---|---|---|---|
OTX2 | retina | pigment | GEO | Homo sapiens | GSE60024 | 15,952 | ||
OTX2 | retina | Hu7 | GEO | Homo sapiens | GSE137311 | 37,787 | ||
Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |