Gene: OTX2

Alternate names for this Gene: CPHD6|MCOPS5

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q22.3

Description of this Gene: orthodenticle homeobox 2

Type of Gene: protein-coding

rs1555350254 in OTX2 gene and Anophthalmos PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

rs773157352 in OTX2 gene and Dysmorphic features PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

rs104894464 in OTX2 gene and Microphthalmia, Syndromic 5 PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 20396904 2010 A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.

PMID 15846561 2005 Heterozygous mutations of OTX2 cause severe ocular malformations.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

rs773157352 in OTX2 gene and Multiple congenital anomalies PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

rs773157352 in OTX2 gene and Muscle hypotonia PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

rs199761861 in OTX2 gene and PITUITARY HORMONE DEFICIENCY, COMBINED, 6 PMID 22715480 2012 A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.