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
All peaks OTX2
Download BED file
Non redundant peaks OTX2
Download BED file
SEQUENCES OTX2
Download FASTA file
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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