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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IQCE
IQ motif containing E
Chromosome 7 Β· 7p22.3
NCBI Gene: 23288Ensembl: ENSG00000106012.19HGNC: HGNC:29171UniProt: A0A087WX19
31PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinglimb morphogenesisciliumciliary membranepolydactyly, postaxial, type a7polydactyly, postaxial, type A1postaxial polydactyly type Aretinal degeneration
✦AI Summary

IQCE (IQ motif containing E) is a ciliary protein that functions as a component of the EvC complex, a positive regulator of Hedgehog (Hh) signaling essential for limb development 1. IQCE anchors the EVC-EVC2 complex at the base of primary cilia through interaction with EFCAB7, creating a signaling microdomain that activates the transcription factor GLI2 1. This ciliary localization is critical for proper anteroposterior patterning during limb morphogenesis 2. Dysregulation of IQCE impairs Hh pathway activation and results in dysregulation of Hh-associated genes 2. Loss-of-function mutations in IQCE cause nonsyndromic postaxial polydactyly (PAP), characterized by supernumerary digits 2. Zebrafish models with IQCE dysfunction demonstrate a spectrum of ciliary defect phenotypes including body curvature, kidney cysts, left-right asymmetry, and retinal defects, confirming its role in cilia function 2. IQCE mutations account for one of eleven identified genes causing nonsyndromic PAP, positioned alongside variants in related pathway components EVC, EVC2, GLI1, and EFCAB7 3. The discovery of recurrent IQCE mutations across unrelated families establishes it as a significant PAP locus 2.

Sources cited
1
IQCE is a ciliary protein that anchors the EVC-EVC2 complex at the base of primary cilia and positively regulates Hedgehog signaling
PMID: 24582806
2
IQCE mutations cause nonsyndromic postaxial polydactyly and ciliary defects; dysfunction dysregulates hedgehog pathway genes
PMID: 31549751
3
IQCE is one of seven genes reported to cause nonsyndromic postaxial polydactyly in humans
PMID: 36071556
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
polydactyly, postaxial, type a7Open Targets
0.66Moderate
polydactyly, postaxial, type A1Open Targets
0.46Moderate
postaxial polydactyly type AOpen Targets
0.37Weak
brachydactylyOpen Targets
0.34Weak
retinal degenerationOpen Targets
0.34Weak
syndactylyOpen Targets
0.34Weak
dementiaOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
genetic disorderOpen Targets
0.27Weak
adrenal gland hyperfunctionOpen Targets
0.22Weak
hyperaldosteronismOpen Targets
0.22Weak
aceruloplasminemiaOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Early-onset X-linked optic atrophyOpen Targets
0.04Suggestive
optic atrophy 2Open Targets
0.04Suggestive
episodic ataxia type 1Open Targets
0.03Suggestive
dopa-responsive dystoniaOpen Targets
0.03Suggestive
dystonia 5Open Targets
0.03Suggestive
hemoglobin D diseaseOpen Targets
0.03Suggestive
Polydactyly, postaxial, A7UniProt
Pathogenic Variants9
NM_152558.5(IQCE):c.1350_1353delPathogenic
Polydactyly, postaxial, type A1|Polydactyly, postaxial, type a7|IQCE-related disorder|Familial pancreatic carcinoma|not provided
β˜…β˜…β˜†β˜†2025
NM_152558.5(IQCE):c.765C>G (p.Tyr255Ter)Pathogenic
Polydactyly, postaxial, type a7
β˜…β˜†β˜†β˜†2025β†’ Residue 255
NM_152558.5(IQCE):c.1540del (p.Cys514fs)Pathogenic
Polydactyly, postaxial, type a7
β˜…β˜†β˜†β˜†2024β†’ Residue 514
NM_152558.5(IQCE):c.1493G>A (p.Trp498Ter)Pathogenic
Polydactyly, postaxial, type a7
β˜…β˜†β˜†β˜†2024β†’ Residue 498
NM_152558.5(IQCE):c.1616dup (p.Ala540fs)Likely pathogenic
Polydactyly, postaxial, type a7
β˜…β˜†β˜†β˜†2024β†’ Residue 540
NM_152558.5(IQCE):c.323del (p.Gly108fs)Likely pathogenic
Polydactyly, postaxial, type a7
β˜…β˜†β˜†β˜†2023β†’ Residue 108
NM_152558.5(IQCE):c.3G>A (p.Met1Ile)Likely pathogenic
Polydactyly, postaxial, type a7
β˜…β˜†β˜†β˜†2020β†’ Residue 1
NM_152558.5(IQCE):c.1180C>T (p.Arg394Ter)Likely pathogenic
IQCE-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 394
NM_152558.5(IQCE):c.395-1G>APathogenic
Polydactyly, postaxial, type a7
β˜†β˜†β˜†β˜†2020
View on ClinVar β†—
Related Genes
EVC2Protein interaction100%TTC23LProtein interaction76%EVCProtein interaction74%TTC23Protein interaction70%EFCAB7Protein interaction62%ZNF141Protein interaction57%
Tissue Expression6 tissues
Brain
100%
Heart
95%
Bone Marrow
84%
Ovary
78%
Lung
66%
Liver
43%
Gene Interaction Network
Click a node to explore
IQCEEVC2TTC23LEVCTTC23EFCAB7ZNF141
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6IPM2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.44LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.22 [1.03–1.44]
RankingsWhere IQCE stands among ~20K protein-coding genes
  • #11,732of 20,598
    Most Researched31
  • #2,987of 5,498
    Most Pathogenic Variants9
  • #14,796of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedIQCE
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
PMID: 37684519
Eur J Hum Genet Β· 2023
1.00
2
Genetic overview of postaxial polydactyly: Updated classification.
PMID: 36071556
Clin Genet Β· 2023
0.90
3
Unraveling epigenomic signatures and effectiveness of electroconvulsive therapy in treatment-resistant depression patients: a prospective longitudinal study.
PMID: 39020437
Clin Epigenetics Β· 2024
0.80
4
EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.
PMID: 24582806
Dev Cell Β· 2014
0.70
5
Identification and Validation of Prognostically Relevant Gene Signature in Melanoma.
PMID: 32462000
Biomed Res Int Β· 2020
0.60