DSC3

Chr 18AR

desmocollin 3

Also known as: CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP

NCBI Gene: 1825ENSG00000134762UniProt: Q14574OMIM: 600271

Desmocollin-3 is a calcium-dependent glycoprotein that forms part of desmosome cell-cell junctions, functioning as an adhesive protein essential for epidermal cell adhesion, dermal barrier function, and hair shaft anchorage. Mutations cause hypotrichosis and recurrent skin vesicles, a disorder affecting hair growth and skin integrity. This condition follows autosomal recessive inheritance.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 1.201 OMIM phenotype
Clinical Summary— DSC3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
47 unique Pathogenic / Likely Pathogenic· 130 VUS of 256 total submissions
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — DSC3
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.20LOEUF
pLI 0.000
Z-score 0.58
OE 0.90 (0.68–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.65Z-score
OE missense 1.08 (1.01–1.16)
526 obs / 485.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.90 (0.68–1.20)
0≤0.351.4
Missense OE1.08 (1.01–1.16)
0≤0.61.4
Synonymous OE1.17
0≤1.21.6
LoF obs/exp: 34 / 37.9Missense obs/exp: 526 / 485.8Syn Z: -1.78

ClinVar Variant Classifications

256 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic39
Likely Pathogenic8
VUS130
Likely Benign16
Benign54
Conflicting2
39
Pathogenic
8
Likely Pathogenic
130
VUS
16
Likely Benign
54
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
37
0
39
Likely Pathogenic
7
0
1
0
8
VUS
0
124
6
0
130
Likely Benign
1
10
1
4
16
Benign
1
6
44
3
54
Conflicting
—2
Total11140897249

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

View in ClinVar →

Protein Context — Lollipop Plot

DSC3 · 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.

Search ClinicalTrials.gov →
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
Autoantibodies to DSC3 in Pemphigus Exclusively Recognize Calcium-Dependent Epitope in Extracellular Domain 2.
Koga H et al.·J Invest Dermatol
2021
Association of DSC3 mRNA down-regulation in prostate cancer with promoter hypermethylation and poor prognosis.
Pan J et al.·PLoS One
2014Open Access
X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.
Herzfeld T et al.·Hum Mol Genet
2013
DSC3 expression is regulated by p53, and methylation of DSC3 DNA is a prognostic marker in human colorectal cancer.
Cui T et al.·Br J Cancer
2011Open Access
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
Ayub M et al.·Am J Hum Genet
2009
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