COL27A1

Chr 9AR

collagen type XXVII alpha 1 chain

ENSG00000196739UniProt: Q8IZC6OMIM: 608461

The protein is a fibrillar collagen that functions during cartilage calcification and the transition of cartilage to bone. Autosomal recessive mutations cause Steel syndrome, a skeletal dysplasia characterized by bone and cartilage abnormalities. The pathogenic mechanism involves disruption of normal bone and cartilage development due to defective collagen function.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.311 OMIM phenotype
Clinical Summary— COL27A1
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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.59) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.31LOEUF
pLI 0.586
Z-score 7.51
OE 0.22 (0.16–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.63Z-score
OE missense 0.95 (0.90–1.00)
1060 obs / 1119.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.22 (0.16–0.31)
0≤0.351.4
Missense OE0.95 (0.90–1.00)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 24 / 108.3Missense obs/exp: 1060 / 1119.2Syn Z: -1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COL27A1 · 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
The Association of the COL27A1 rs946053 and TNC rs2104772s with Tendinopathies: A Case-Control Study in High-Level Croatian Athletes.
Vrgoč G et al.·Genes (Basel)
2025Open Access
Retracted: Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis.
Methods In Medicine CAM.·Comput Math Methods Med
2023Open Access
Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.
Cruz-Centeno N et al.·Am J Case Rep
2022Open Access
Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis.
Hu Z et al.·Comput Math Methods Med
2022Open Access
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.
Kim JS et al.·Hum Genome Var
2021Open 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