HIC1

Chr 17

HIC ZBTB transcriptional repressor 1

Also known as: ZBTB29, ZNF901, hic-1

NCBI Gene: 3090ENSG00000177374UniProt: Q14526OMIM: 603825

HIC1 encodes a transcriptional repressor that regulates cell cycle genes, Wnt signaling, and developmental processes affecting the head, face, limbs, and ventral body wall. Mutations cause autosomal dominant intellectual disability with distinctive facial features, microcephaly, and developmental delays, with onset typically apparent in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.648), and haploinsufficiency has been associated with contiguous gene deletion syndromes.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.65
Clinical Summary— HIC1
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.65LOEUF
pLI 0.130
Z-score 2.50
OE 0.28 (0.14–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
2.70Z-score
OE missense 0.60 (0.54–0.67)
222 obs / 367.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.28 (0.14–0.65)
0≤0.351.4
Missense OE0.60 (0.54–0.67)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 4 / 14.1Missense obs/exp: 222 / 367.9Syn Z: -0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HIC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
From RCT to mechanistic study: ATRA reverses myofibroblast activation by reprogramming glucose metabolism via HIC1 and PCK1/2 to attenuate hypertrophic scar formation.
Li ZC et al.·Mil Med Res
2026
Mechanistic Investigation of FBXW11-Mediated Ubiquitination and Degradation of HIC1 in Regulating IRF1 Transcription and Accelerating Acute Pancreatitis Progression.
Jiang H et al.·Dig Dis Sci
2025
Emerging role of HIC1 in prostate cancer progression and therapeutic response: A novel perspective.
Xue D et al.·J Cell Commun Signal
2025Open Access
Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.
Domínguez-Rovira X et al.·Int J Cancer
2025Open Access
Suv39h1 Regulates Phenotypic Modulation of Smooth Muscle Cells and Contributes to Vascular Injury by Repressing HIC1 Transcription.
Yang Y et al.·Arterioscler Thromb Vasc Biol
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients