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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RPTN
repetin
Chromosome 1 · 1q21.3
NCBI Gene: 126638Ensembl: ENSG00000215853.3HGNC: HGNC:26809UniProt: Q6XPR3
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cornified envelopecytosolcalcium ion bindingtransition metal ion bindingcutaneous mastocytosisMastocytosisneuroblastomajaw disease
✦AI Summary

RPTN (repetin) is a multifunctional S100 fused-type protein primarily involved in cornified envelope formation and epidermal barrier function 1. The protein contains functional EF-hand domains that reversibly bind calcium and is localized to keratohyalin F-granules in the stratum granulosum 1. RPTN is expressed throughout the epidermis with particularly strong expression in the acrosyringium and inner hair root sheath 1. UVB irradiation significantly increases RPTN expression in the granular layer, suggesting a role in epidermal barrier repair through ERK1/2 and STAT3 pathway activation 2. In atopic dermatitis (AD), RPTN expression is elevated in both lesional and nonlesional skin, and specific polymorphisms (rs3001978) are associated with disease severity, early onset, and concomitant asthma 34. Beyond dermatology, RPTN is ubiquitously expressed in the brain, particularly in the hippocampus and prefrontal cortex, with significantly diminished serum levels in patients with schizophrenia and bipolar disorder, suggesting involvement in emotional and cognitive processing 5. These findings indicate RPTN functions as both a structural barrier protein and a potential biomarker for neuropsychiatric disorders.

Sources cited
1
RPTN is a member of the fused gene family with functional EF-hand calcium-binding domains, localized to keratohyalin F-granules in stratum granulosum
PMID: 15854042
2
UVB irradiation increases RPTN expression in granular layer through ERK1/2 and STAT3 activation, suggesting role in epidermal barrier repair
PMID: 38794812
3
RPTN polymorphism rs3001978 is associated with AD severity, early onset, pruritus, and asthma; mRNA levels elevated in AD skin
PMID: 28219068
4
RPTN expression is increased in 3D AD skin model stimulated with IL-4 and IL-13, while other S100 fused-type proteins are decreased
PMID: 36995036
5
RPTN is ubiquitously expressed in brain including hippocampus and prefrontal cortex; serum levels significantly diminished in schizophrenia and bipolar disorder patients
PMID: 25613293
Disease Associationsⓘ20
cutaneous mastocytosisOpen Targets
0.33Weak
MastocytosisOpen Targets
0.33Weak
neuroblastomaOpen Targets
0.33Weak
jaw diseaseOpen Targets
0.20Weak
skin neoplasmOpen Targets
0.11Weak
Abnormality of the integumentOpen Targets
0.10Weak
skin cancerOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.08Suggestive
atopic eczemaOpen Targets
0.08Suggestive
alopeciaOpen Targets
0.07Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
Pilonidal abscessOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.02Suggestive
bipolar disorderOpen Targets
0.02Suggestive
skin diseaseOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Cutaneous T-cell lymphomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEPP1Protein interaction94%LCE3CProtein interaction83%LCE3BProtein interaction79%LCE5AProtein interaction76%LCE3EProtein interaction76%LCE3AProtein interaction75%
Tissue Expression6 tissues
Liver
0%
Ovary
0%
Lung
0%
Heart
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
RPTNDEPP1LCE3CLCE3BLCE5ALCE3ELCE3A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6XPR3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.81LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.01 [0.52–1.81]
RankingsWhere RPTN stands among ~20K protein-coding genes
  • #16,555of 20,598
    Most Researched12
  • #16,628of 17,882
    Most Constrained (LOEUF)1.81
Genes detectedRPTN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Altered expression of S100 fused-type proteins in an atopic dermatitis skin model.
PMID: 36995036
Exp Dermatol · 2023
1.00
2
Gasserian ganglion stimulation for refractory trigeminal neuropathic pain.
PMID: 38642897
Rev Esp Anestesiol Reanim (Engl Ed) · 2024
0.90
3
Liver-targeting Resibufogenin-loaded poly(lactic-co-glycolic acid)-D-α-tocopheryl polyethylene glycol 1000 succinate nanoparticles for liver cancer therapy.
PMID: 26869788
Int J Nanomedicine · 2016
0.80
4
Diminished serum repetin levels in patients with schizophrenia and bipolar disorder.
PMID: 25613293
Sci Rep · 2015
0.70
5
Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians.
PMID: 29935789
J Dermatol Sci · 2018
0.60