Aliases:
Chromosome No: 2
Chromosome Band: 2p15
Genetic Category: Genetic association-Rare single gene variant/Functional-
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 3
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
In OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 x 10(-7) and 6.07 x 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 x 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. These results indicate that deletion 2p15-p16.1 is not commonly associated with idiopathic ASD, but represents a novel contiguous gene syndrome associated with a constellation of phenotypic features (autism, intellectual disability, craniofacial/CNS dysmorphology), and that OXT1 may contribute to ASD in 2p15-p16.1 deletion cases and non-deletion cases of ASD mapping to this chromosome region.
Molecular Function
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy.
External Links
