OTX2 Chromosome 14
Orthodenticle homeobox 2
Upload your DNA to see your personal genotypes for variants in OTX2.
What This Gene Does
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]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
14q22.3
Ensembl
ENSG00000165588
Associated Conditions (14)
Anophthalmia-microphthalmia syndrome
Pituitary hormone deficiency
combined
6
Syndromic microphthalmia type 5
Inborn genetic diseases
46
XY partial gonadal dysgenesis
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Retinal dystrophy
9 conditions
OTX2-related disorder
Anophthalmia
Leber congenital amaurosis
Key Variants
RS147896150
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Pituitary hormone deficiency, combined
Health Risk
RS150982073
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Syndromic microphthalmia type 5, Pituitary hormone deficiency
Health Risk
RS199650198
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Inborn genetic diseases, Anophthalmia-microphthalmia syndrome
Health Risk
RS199761861
Conflicting classifications of pathogenicity
Syndromic microphthalmia type 5, Pituitary hormone deficiency, combined
Health Risk
RS200680654
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Inborn genetic diseases, Anophthalmia-microphthalmia syndrome
Health Risk
RS201721391
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Inborn genetic diseases, Anophthalmia-microphthalmia syndrome
Health Risk
RS371958059
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 6
Health Risk
RS374968145
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Inborn genetic diseases, Anophthalmia-microphthalmia syndrome
Health Risk
RS534764707
Conflicting classifications of pathogenicity
Health Risk
RS747916036
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 6
Health Risk
RS770486100
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Inborn genetic diseases, Anophthalmia-microphthalmia syndrome
Health Risk
RS1064795810
Likely pathogenic
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2503907965 | Health Risk | Pathogenic | OTX2-related disorder, OTX2-related disorder |
| RS2503908103 | Health Risk | Pathogenic | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS397514463 | Health Risk | Pathogenic | Syndromic microphthalmia type 5, Anophthalmia-microphthalmia syndrome, Syndromic microphthalmia type 5 |
| RS747279627 | Health Risk | Pathogenic | Syndromic microphthalmia type 5, OTX2-related disorder, Syndromic microphthalmia type 5 |
| RS754929157 | Health Risk | Pathogenic | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS758119168 | Health Risk | Pathogenic | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS773157352 | Health Risk | Pathogenic | Inborn genetic diseases, Anophthalmia-microphthalmia syndrome, Inborn genetic diseases |
| RS786205873 | Health Risk | Pathogenic | Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS786205874 | Health Risk | Pathogenic | Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS786205879 | Health Risk | Pathogenic | Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS786205884 | Health Risk | Pathogenic | Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS886043793 | Health Risk | Pathogenic | — |