AlphaFold predicted structure
EMX2 · Q04743
Mean pLDDT
66.1/ 100
Low
252 residues
Confidence breakdown
- Very high(≥ 90)21%
- Confident(70–90)12%
- Low(50–70)44%
- Very low(< 50)23%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
EMX2
Chr 10q26.11empty spiracles homeobox 2
- MANE:
- ENST00000553456.5
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
schizencephaly
0.61congenital hypogonadotropic hypogonadism
0.44neurotic disorder
0.33Dermatochalasis
0.33autosomal dominant compelling helio-ophthalmic outburst syndrome
0.32Ascher syndrome
0.29Inguinal hernia
0.29stomach disorder
0.24cartilage disease
0.24lobe attachment
0.24
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Homeobox protein EMX2
Transcription factor, which in cooperation with EMX1, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combination with OTX1/2 to specify cell fates in the developing central nervous system. In the inner ear, it controls the distribution of GPR156 at hair cell boundaries, and regulates the organization of stereociliary bundles in opposite orientations across the line of polarity reversal (LPR)