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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPRR2E
small proline rich protein 2E
Chromosome 1 · 1q21.3
NCBI Gene: 6704Ensembl: ENSG00000203785.9HGNC: HGNC:11265UniProt: P22531
28PubMed Papers
19Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cornified envelopecytoplasmstructural constituent of skin epidermisprotein bindingesophageal adenocarcinomatinea pedisasthmaallergic disease
✦AI Summary

SPRR2E (small proline rich protein 2E) is a keratinocyte-specific structural protein that functions as a cross-linked envelope component of the epidermis. Synthesized initially in the cytosol, SPRR2E becomes covalently cross-linked to membrane proteins via transglutaminase, contributing to the formation of the insoluble cornified envelope beneath the plasma membrane 1. This protein plays a critical role in keratinocyte differentiation and keratinization, as evidenced by its significant enrichment in pathways related to epidermal development and cell differentiation 1. Clinically, SPRR2E expression is dysregulated across multiple pathological conditions. In diabetic foot ulcers, SPRR2E is significantly downregulated compared to normal skin, suggesting its reduced expression impedes wound healing and ulcer resolution 1. Similarly, SPRR2E expression is altered in inflammatory skin conditions, including psoriasis, where it correlates with genes participating in cell proliferation and epidermal differentiation 2. In malignancies, SPRR2E serves as a prognostic marker in cutaneous melanoma 3, oral squamous cell carcinoma 4, lung squamous carcinoma 5, and eosinophilic esophagitis 6, where its expression patterns contribute to cancer-associated pathways and patient survival prediction. These findings establish SPRR2E as a key biomarker linking epidermal homeostasis to disease pathogenesis.

Sources cited
1
SPRR2E is downregulated in diabetic foot ulcers and serves as a key gene in keratinocyte differentiation, keratinization, and epidermal development pathways
PMID: 36299206
2
SPRR2E expression in keratinocytes correlates with genes involved in cell proliferation and epidermal differentiation in psoriatic skin
PMID: 39342985
3
SPRR2E is one of eight genes in a prognostic model for cutaneous melanoma subtypes and patient survival prediction
PMID: 39644349
4
SPRR2E is identified as a candidate biomarker gene for overall survival prediction in oral squamous cell carcinoma patients
PMID: 33869632
5
SPRR2E is among the top ten upregulated genes in lung squamous carcinoma tissues and is associated with lymph node metastasis
PMID: 29167000
6
SPRR2E is confirmed as a disease-causing gene in eosinophilic esophagitis, identified through differential gene expression analysis
PMID: 39643769
7
SPRR2E expression is modulated by cancer exosomes in keratinocytes, indicating involvement in cancer-associated cell differentiation pathways
PMID: 30008265
Disease Associationsⓘ19
esophageal adenocarcinomaOpen Targets
0.04Suggestive
tinea pedisOpen Targets
0.04Suggestive
asthmaOpen Targets
0.03Suggestive
allergic diseaseOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
bladder transitional cell carcinomaOpen Targets
0.00Suggestive
eosinophilic esophagitisOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
Inflammatory abnormality of the skinOpen Targets
0.00Suggestive
influenzaOpen Targets
0.00Suggestive
pulmonary fibrosisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPRR1BProtein interaction93%SPRR2AProtein interaction93%SPRR2BProtein interaction93%SPRR2GProtein interaction90%SPRR2FProtein interaction89%SPRR3Protein interaction89%
Tissue Expression6 tissues
Ovary
100%
Liver
39%
Lung
12%
Brain
2%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SPRR2ESPRR1BSPRR2ASPRR2BSPRR2GSPRR2FSPRR3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P22531
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.67LoF Tolerant
pLIⓘ
0.28Tolerant
Observed/Expected LoF0.43 [0.15–1.67]
RankingsWhere SPRR2E stands among ~20K protein-coding genes
  • #12,453of 20,598
    Most Researched28
  • #15,963of 17,882
    Most Constrained (LOEUF)1.67
Genes detectedSPRR2E
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CRISPR-Cas9 screening identified novel subtypes of cutaneous melanoma based on essential cancer genes.
PMID: 39644349
Arch Dermatol Res · 2024
1.00
2
Profiling Long Noncoding RNA in Psoriatic Skin Using Single-Cell RNA Sequencing.
PMID: 39342985
J Invest Dermatol · 2025
0.90
3
[Screening, functional analysis and clinical validation of differentially expressed genes in diabetic foot ulcers].
PMID: 36299206
Zhonghua Shao Shang Yu Chuang Mian Xiu Fu Za Zhi · 2022
0.80
4
[Study on Genetype in Lung Squamous Carcinoma by High-throughput of 
Transcriptome Sequence].
PMID: 29167000
Zhongguo Fei Ai Za Zhi · 2017
0.70
5
Transcriptome reprogramming by cancer exosomes: identification of novel molecular targets in matrix and immune modulation.
PMID: 30008265
Mol Cancer · 2018
0.60