IQCE

Chr 7p22.3

IQ motif containing E

Aliases:: KIAA1023
MANE:: ENST00000402050.7

OMIM: 617631 ↗NCBI: 23288 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

IQCE · Q6IPM2

v62025-08-01

Predicted Aligned Error matrix for IQCE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.1/ 100

Low

695 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)12%
Low(50–70)16%
Very low(< 50)36%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

polydactyly, postaxial, type a7
0.66
polydactyly, postaxial, type A1
0.46
postaxial polydactyly type A
0.37
retinal degeneration
0.34
brachydactyly
0.34
syndactyly
0.34
dementia
0.28
hereditary disease
0.27
adolescent idiopathic scoliosis
0.25
adrenal gland hyperfunction
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

IQ domain-containing protein E

Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis (PubMed:28488682)