CTHRC1

Chr 8

collagen triple helix repeat containing 1

NCBI Gene: 115908ENSG00000164932UniProt: Q96CG8

The protein encoded by this gene negatively regulates collagen matrix deposition and is involved in vascular remodeling following arterial injury. Mutations cause Barrett esophagus and esophageal adenocarcinoma. The gene shows low constraint against loss-of-function variants, and inheritance pattern information is not available from the current data.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

Barrett esophagus/esophageal adenocarcinomaMIM #614266
1
Active trials
69
Pubs (1 yr)
39
P/LP submissions
3%
P/LP missense
1.40
LOEUF
—
Mechanism
Clinical Summary— CTHRC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
39 unique Pathogenic / Likely Pathogenic· 43 VUS of 92 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.40LOEUF
pLI 0.000
Z-score 0.66
OE 0.78 (0.46–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.63Z-score
OE missense 0.84 (0.72–0.99)
107 obs / 127.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.78 (0.46–1.40)
0≤0.351.4
Missense OE0.84 (0.72–0.99)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 8 / 10.3Missense obs/exp: 107 / 127.1Syn Z: 0.16

ClinVar Variant Classifications

92 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic39
VUS43
39
Pathogenic
43
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
38
0
39
Likely Pathogenic
0
0
0
0
0
VUS
0
37
6
0
43
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total03844082

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CTHRC1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Multi-omics reveals that CTHRC1 secreted by cancer-associated fibroblasts promotes EMT by ITGA5/PI3K/AKT signaling pathway in HNSCC.
Wu Y et al.·Cell Signal
2026
Identification of CTHRC1 as a novel candidate for neurodevelopmental disorders.
Xu J et al.·Front Aging Neurosci
2026Open Access
TEAD4-driven GPX8 promotes temozolomide resistance in glioma by facilitating CTHRC1 expression to suppress mitochondrial oxidative stress.
Yu X et al.·Naunyn Schmiedebergs Arch Pharmacol
2026
Meox1 Promotes Cardiac Fibrosis and Pathological Remodeling following Myocardial Infarction through Cthrc1/p-Smad2/3 Signaling.
Zhang M et al.·Int J Biol Sci
2026Open AccessFunctional
CTHRC1/TGF-β/Smad axis serves as therapeutic targets in inhibiting oral squamous cell carcinoma by mediating ferroptosis.
Huang S et al.·Discov Oncol
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