COL14A1

Chr 8

collagen type XIV alpha 1 chain

Also known as: UND

NCBI Gene: 7373ENSG00000187955UniProt: Q05707

The encoded protein is the alpha chain of type XIV collagen, which plays an adhesive role by integrating collagen bundles and regulating collagen fibril formation in connective tissues. Mutations cause Ehlers-Danlos syndrome, musculocontractural type 2, which follows an autosomal recessive inheritance pattern and presents with joint contractures, skin hyperextensibility, and musculoskeletal abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.535).

Summary from RefSeq, UniProt
Research Assistant →
2
Active trials
15
Pubs (1 yr)
52
P/LP submissions
0%
P/LP missense
0.54
LOEUF
DN
Mechanism· predicted
Clinical Summary— COL14A1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
52 unique Pathogenic / Likely Pathogenic· 195 VUS of 427 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.54LOEUF
pLI 0.000
Z-score 5.47
OE 0.41 (0.32–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.54Z-score
OE missense 0.86 (0.81–0.91)
843 obs / 978.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.32–0.54)
0≤0.351.4
Missense OE0.86 (0.81–0.91)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 42 / 101.5Missense obs/exp: 843 / 978.8Syn Z: 0.01
DN
0.6938th %ile
GOF
0.6249th %ile
LOF
0.3355th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

427 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic52
VUS195
Likely Benign34
Benign98
Conflicting1
52
Pathogenic
195
VUS
34
Likely Benign
98
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
52
0
52
Likely Pathogenic
0
0
0
0
0
VUS
0
193
2
0
195
Likely Benign
0
19
2
13
34
Benign
0
7
75
16
98
Conflicting
—1
Total021913129380

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

View in ClinVar →

Protein Context — Lollipop Plot

COL14A1 · protein map & ClinVar variants

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

Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
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
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