AlphaFold predicted structure
IRX5 · P78411
Mean pLDDT
54.3/ 100
Low
483 residues
Confidence breakdown
- Very high(≥ 90)10%
- Confident(70–90)2%
- Low(50–70)34%
- Very low(< 50)55%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
IRX5
Chr 16q12.2iroquois homeobox 5
- Aliases:
- IRX-2a
- MANE:
- ENST00000394636.9
Annotations refreshed 11 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Craniofacial dysplasia-osteopenia syndrome
0.71craniofacial dysplasia - osteopenia syndrome
0.70neurodegenerative disease
0.51Abnormality of the skeletal system
0.51androgenetic alopecia
0.38chromosome 16q12 duplication syndrome
0.33alcohol drinking
0.32prostate carcinoma
0.30nervous system disorder
0.30breast carcinoma
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Iroquois-class homeodomain protein IRX-5
Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12