OTX2 - orthodenticle homeobox 2 Gene
Also Known as CPHD6; MCOPS5
Species: Homo sapiens
About OTX2
This gene has 12 transcripts (splice variants), 210 orthologues, 50 paralogues and is associated with 10 phenotypes. Low expression observed in reference dataset.
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. [provided by RefSeq, Jul 2012]
OTX2 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001270523.2 | NP_001257452.1 | homeobox protein OTX2 isoform b |
| NM_001270524.2 | NP_001257453.1 | homeobox protein OTX2 isoform b |
| NM_001270525.2 | NP_001257454.1 | homeobox protein OTX2 isoform a |
| NM_021728.4 | NP_068374.1 | homeobox protein OTX2 isoform a |
| NM_172337.3 | NP_758840.1 | homeobox protein OTX2 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
12559959 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
12559959 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20530484 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in axon guidance |
IDA
IDA: Inferred from direct assay
|
16267555 | GOA |
| involved in dopaminergic neuron differentiation |
IGI
IGI: Inferred from genetic interaction
|
19951692 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
12559959 | GOA |
| involved in protein-containing complex assembly |
IDA
IDA: Inferred from direct assay
|
20530484 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in growth cone |
IDA
IDA: Inferred from direct assay
|
16267555 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
24399192 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
20530484 | GOA |
OTX2 Protein Structure
Homeobox: Homeobox domain (39 - 95)
TF_Otx: Otx1 transcription factor (153 - 235)
- 0
- 100
- 200
- 289 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein OTX2 |
|
OTX2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82465 | OTX2 Antibody (YA2210) | WB | Human |
| HY-P84259 | OTX2 Antibody (YA3956) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P84259A | OTX2 Antibody (YA3956)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P85307 | OTX2 Antibody (YA4999) | WB, IHC-P, IHC-F, ICC/IF, FC, IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Microphthalmia, Syndromic 5 |
|
|
| Pituitary Hormone Deficiency, Combined, 6 |
|
|
| Colobomatous Microphthalmia |
|
|
| Fryns Microphthalmia Syndrome |
|
|
| Septooptic Dysplasia |
|
|
| Butterfly-Shaped Pigment Dystrophy |
|
|
| Nanophthalmos |
|
|
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
|
| Leber Plus Disease |
|
|
| Syndromic Microphthalmia |
|
|
| Agnathia-Otocephaly Complex |
|
|
| Hypertonia |
|
|
| Microphthalmia |
|
|
| Pattern Dystrophy |
|
|
| 46,Xy Partial Gonadal Dysgenesis |
|
|
| Anxiety |
|
|
| Medulloblastoma |
|
|
| Hypopituitarism |
|
|
| Dysostosis |
|
|
| Cataract |
|
|
| Desmoplastic Nodular Medulloblastoma |
|
|
| Macular Degeneration, Age-Related, 7 |
|
|
| Medullomyoblastoma |
|
|
| Large Cell Medulloblastoma |
|
|
| Kallmann Syndrome |
|
|
| Microphthalmia, Syndromic 3 |
|
|
| Pituitary Hypoplasia |
|
|
| Microphthalmia, Isolated 3 |
|
|
| Isolated Microphthalmia |
|
|
| Arthrogryposis, Distal, Type 2a |
|
|
| Craniofacial Microsomia |
|
|
| Microphthalmia, Syndromic 8 |
|
|
| Pituitary Hormone Deficiency, Combined, 2 |
|
|
| Amblyopia |
|
|
| Macular Dystrophy, Patterned, 1 |
|
|
| Vitreous Disease |
|
|
| Enhanced S-Cone Syndrome |
|
|
| Coloboma Of Macula |
|
|
| Sclerocornea |
|
|
| Microphthalmia, Isolated 2 |
|
|
| Anterior Segment Dysgenesis |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Valproate Embryopathy |
|
|
| Aniridia 1 |
|
|
| Infratentorial Cancer |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Childhood Medulloblastoma |
|
|
| Optic Nerve Hypoplasia, Bilateral |
|
|
| Exotropia |
|
|
| Iris Disease |
|
|
| Persistent Hyperplastic Primary Vitreous |
|
|
| Branchiootic Syndrome |
|
|
| Charge Syndrome |
|
|
| Pituitary Gland Disease |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Esotropia |
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
|
| Holoprosencephaly |
|
|
| Orofacial Cleft |
|
|
| Congenital Nervous System Abnormality |
|
|
| Fundus Dystrophy |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Eye Disease |
|
|
| Strabismus |
|
|
| Retinitis Pigmentosa |
|
|
| Joubert Syndrome 1 |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | OTX2 | MGD | MGI:97451 |
| Rattus norvegicus | OTX2 | RGD | RGD:1305705 |
| Canis familiaris | OTX2 | VGNC | VGNC:44194 |
| Bos taurus | OTX2 | VGNC | VGNC:32503 |
| Macaca mulatta | OTX2 | VGNC | VGNC:84414 |
| Felis catus | OTX2 | VGNC | VGNC:80888 |
| Others | OTX2 | NCBI |