HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SCEL
sciellin
Chromosome 13 · 13q22.3
NCBI Gene: 8796Ensembl: ENSG00000136155.18HGNC: HGNC:10573UniProt: O95171
37PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeplasma membraneperinuclear region of cytoplasmresponse to mechanical stimulusGenu valgumGenu varumMoyamoya diseasediabetes mellitus
✦AI Summary

SCEL (sciellin) is a precursor protein of the cornified envelope that plays crucial roles in epithelial differentiation and barrier function. The protein is characterized by a central core of nonidentical repeats, with each repeat encoded by a single exon in a unique genomic organization 1. SCEL functions in keratinocyte differentiation and is expressed in stratified epithelia displaying barrier properties, with expression correlating with terminal differentiation markers during embryonic development 1. The protein contains a LIM domain that may facilitate protein associations and localize SCEL to the cornified envelope. In cancer contexts, SCEL demonstrates complex tumor suppressor and oncogenic activities depending on cancer type. In colorectal cancer, SCEL mediates mesenchymal-to-epithelial transition by activating the β-catenin-E-cadherin axis and WNT signaling, with higher expression in primary tumors than hepatic metastases 2. Similarly, in oral squamous cell carcinoma, SCEL acts as a tumor suppressor by inhibiting the TGF-β/Smad pathway 3. Conversely, in pancreatic and thyroid cancers, SCEL promotes tumor progression through Notch and JAK2/STAT3 signaling pathways, respectively 45. SCEL also shows diagnostic potential, with elevated expression in papillary thyroid carcinoma providing significant diagnostic value 6.

Sources cited
1
SCEL is a cornified envelope precursor with unique exon organization and expression in barrier epithelia
PMID: 11112355
2
SCEL mediates mesenchymal-to-epithelial transition in colorectal cancer through β-catenin-E-cadherin axis
PMID: 27013588
3
SCEL acts as tumor suppressor in oral squamous cell carcinoma by inhibiting TGF-β/Smad pathway
PMID: 40372539
4
SCEL promotes pancreatic cancer progression through Notch signaling pathway activation
PMID: 40341648
5
SCEL promotes thyroid cancer development through JAK2/STAT3 signaling pathway
PMID: 38411346
6
SCEL shows diagnostic value in papillary thyroid carcinoma with elevated expression
PMID: 37060824
Disease Associationsⓘ20
Genu valgumOpen Targets
0.32Weak
Genu varumOpen Targets
0.32Weak
Moyamoya diseaseOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.25Weak
ankylosing spondylitisOpen Targets
0.18Weak
placenta praeviaOpen Targets
0.17Weak
oral squamous cell carcinomaOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
pachyonychia congenitaOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.05Suggestive
lung carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
hair colorOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyOpen Targets
0.03Suggestive
Barrett's esophagusOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_144777.3(SCEL):c.175G>A (p.Gly59Ser)Likely pathogenic
Moyamoya angiopathy
☆☆☆☆→ Residue 59
View on ClinVar ↗
Related Genes
SULF1Protein interaction75%SYNPOProtein interaction72%YIPF3Protein interaction71%SPRR2GShared pathway40%SPRR2FShared pathway40%SPRR2BShared pathway40%
Tissue Expression6 tissues
Lung
100%
Liver
1%
Brain
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SCELSULF1SYNPOYIPF3SPRR2GSPRR2FSPRR2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95171
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.50LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.70–1.50]
RankingsWhere SCEL stands among ~20K protein-coding genes
  • #10,687of 20,598
    Most Researched37
  • #5,199of 5,498
    Most Pathogenic Variants1
  • #15,184of 17,882
    Most Constrained (LOEUF)1.50
Genes detectedSCEL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Single-Cell Atlas of the Human Healthy Airways.
PMID: 32726565
Am J Respir Crit Care Med · 2020
1.00
2
Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer.
PMID: 37060824
Pathol Res Pract · 2023
0.90
3
CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
PMID: 37733753
J Cell Physiol · 2023
0.80
4
Gene characterization of sciellin (SCEL) and protein localization in vertebrate epithelia displaying barrier properties.
PMID: 11112355
Genomics · 2000
0.70
5
Silencing of SCEL promotes progression of oral squamous cell carcinoma via activating TGF-β/Smad pathway.
PMID: 40372539
Discov Oncol · 2025
0.60