|
Gene id |
5015 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
OTX2 Gene UCSC Ensembl |
|
Aliases |
CPHD6, MCOPS5 |
|
Gene name |
orthodenticle homeobox 2 |
|
Alternate names |
homeobox protein OTX2, orthodenticle homolog 2, |
|
Gene location |
14q22.3 (56810478: 56799904) Exons: 5 NC_000070.6
|
|
Gene summary(Entrez) |
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 influen
|
|
OMIM |
600037 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Medulloblastoma | KEGG: H01667 |
| Microphthalmia | KEGG: H02170 |
| Septo-optic dysplasia | KEGG: H00544 |
| Anophthalmos | GAD: 20494911 |
| Combined pituitary hormone deficiency | KEGG: H02036 |
| Growth hormone deficiency | KEGG: H00254 |
| Parkinson disease | GAD: 17905480 |
| Bipolar disorder | GAD: 17541950 |
| Male factor infertility | MIK: 23811236 |
| Male infertility | MIK: 23811236 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 23811236 |
Male infer
tility
|
|
|
|
Male infertility |
|
Show abstract |
|