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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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EXPH5
exophilin 5
Chromosome 11 Β· 11q22.3
NCBI Gene: 23086Ensembl: ENSG00000110723.12HGNC: HGNC:30578UniProt: B4E1U8
42PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
small GTPase bindingkeratinocyte developmentmultivesicular body sorting pathwayendosomeepidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessivegenetic disorderprostate carcinomaepidermolysis bullosa simplex
✦AI Summary

EXPH5 (exophilin 5) is a Rab27b effector protein that plays a critical role in vesicular trafficking and exosome secretion. As a small GTPase binding protein, EXPH5 functions in multivesicular body (MVE) docking and trafficking, with silencing phenocopying Rab27b inhibition and reducing exosome secretion 1. In keratinocytes specifically, EXPH5 regulates extracellular vesicle secretion and coordinates focal adhesion dynamics to maintain cell-matrix adhesion and support keratinocyte migration 2. EXPH5 is involved in trafficking CD63+ vesicles containing extracellular matrix proteins to the plasma membrane, with loss-of-function mutations causing perinuclear vesicle accumulation 2. Beyond skin biology, EXPH5 is an ATM/ATR substrate involved in protein secretion and endosome dynamics 3, and emerges as a dysregulated biomarker in COPD and NAFLD-related hepatocellular carcinoma, with decreased expression correlating with disease progression 45. Biallelic EXPH5 mutations cause epidermolysis bullosa simplex 4, an autosomal recessive blistering disorder characterized by defective keratinocyte adhesion, early-onset skin fragility, and variable pigmentary alterations 26. The EXPH5 pathogenic mechanism involves compromised vesicle trafficking and reduced secretion of adhesion-supporting extracellular matrix proteins 7.

Sources cited
1
EXPH5 (Slac2b) is a Rab27b effector that promotes exosome secretion and MVE docking
PMID: 19966785
2
EXPH5 mutations cause defects in keratinocyte adhesion, reduced CD63+ vesicle trafficking, and decreased extracellular vesicle secretion; phenotypes of epidermolysis bullosa simplex
PMID: 32890627
3
EXPH5 is downregulated in late-stage COPD and serves as a diagnostic biomarker gene
PMID: 36746116
4
EXPH5 is downregulated in NAFLD-related hepatocellular carcinoma and correlates with immune cell profiles
PMID: 40595076
5
EXPH5 is an ATM/ATR substrate involved in protein secretion and endosome dynamics
PMID: 39615799
6
EXPH5 mutations are implicated in epidermolysis bullosa pathogenesis as a non-structural protein involved in protein secretion
PMID: 35504439
7
Biallelic EXPH5 mutations cause epidermolysis bullosa simplex with skin blisters, scars, and pigmentary alterations
PMID: 35960249
Disease Associationsβ“˜21
epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessiveOpen Targets
0.74Strong
genetic disorderOpen Targets
0.42Moderate
prostate carcinomaOpen Targets
0.40Moderate
epidermolysis bullosa simplexOpen Targets
0.37Weak
placenta praeviaOpen Targets
0.31Weak
renal carcinomaOpen Targets
0.05Suggestive
obesityOpen Targets
0.04Suggestive
musculoskeletal system diseaseOpen Targets
0.04Suggestive
SplenomegalyOpen Targets
0.04Suggestive
nephrogenic syndrome of inappropriate antidiuresisOpen Targets
0.04Suggestive
clear cell renal carcinomaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.03Suggestive
intestinal impactionOpen Targets
0.03Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.03Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.03Suggestive
hypoparathyroidism, familial isolated 1Open Targets
0.03Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.03Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
conduction system disorderOpen Targets
0.03Suggestive
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessiveUniProt
Pathogenic Variants15
NM_015065.3(EXPH5):c.939del (p.Asn314fs)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 314
NM_015065.3(EXPH5):c.89_99del (p.Glu30fs)Likely pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜…β˜†β˜†β˜†2025β†’ Residue 30
NM_015065.3(EXPH5):c.644T>A (p.Leu215Ter)Likely pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 215
NM_015065.3(EXPH5):c.856del (p.Thr286fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 286
NM_015065.3(EXPH5):c.4483dup (p.Met1495fs)Likely pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜…β˜†β˜†β˜†2023β†’ Residue 1495
NM_015065.3(EXPH5):c.299del (p.Thr100fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 100
NM_015065.3(EXPH5):c.5786del (p.Pro1929fs)Pathogenic
not provided|Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜…β˜†β˜†β˜†2022β†’ Residue 1929
NM_015065.3(EXPH5):c.3640del (p.Cys1214fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 1214
NM_015065.3(EXPH5):c.3650T>A (p.Leu1217Ter)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 1217
NM_015065.3(EXPH5):c.2542del (p.His848fs)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 848
NM_015065.3(EXPH5):c.2897del (p.Pro966fs)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 966
NM_015065.3(EXPH5):c.1395del (p.Phe466fs)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 466
NM_015065.3(EXPH5):c.3917C>G (p.Ser1306Ter)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 1306
NM_015065.3(EXPH5):c.1947dup (p.Thr650fs)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 650
NM_015065.3(EXPH5):c.2249C>A (p.Ser750Ter)Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 750
View on ClinVar β†—
Related Genes
MLPHProtein interaction100%RAB27BProtein interaction60%SYTL4Shared pathway57%RAB27AProtein interaction56%SNX15Shared pathway25%SYNRGShared pathway25%
Tissue Expression6 tissues
Liver
100%
Lung
45%
Brain
17%
Bone Marrow
13%
Ovary
7%
Heart
7%
Gene Interaction Network
Click a node to explore
EXPH5MLPHRAB27BSYTL4RAB27ASNX15SYNRG
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q149M6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.58–1.14]
RankingsWhere EXPH5 stands among ~20K protein-coding genes
  • #9,867of 20,598
    Most Researched42
  • #2,470of 5,498
    Most Pathogenic Variants15
  • #11,863of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedEXPH5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Rab27a and Rab27b control different steps of the exosome secretion pathway.
PMID: 19966785
Nat Cell Biol Β· 2010
1.00
2
Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis.
PMID: 36746116
Comput Biol Med Β· 2023
0.90
3
Predictive effect and clinical diagnosis significance of exosome-related genes for nonalcoholic fatty liver disease-related hepatocellular carcinoma.
PMID: 40595076
Sci Rep Β· 2025
0.80
4
De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation.
PMID: 34530633
Circ Res Β· 2021
0.70
5
Pathomechanisms of epidermolysis bullosa: Beyond structural proteins.
PMID: 35504439
Matrix Biol Β· 2022
0.60