Identity
HGNC
LOCATION
11q22.3
LOCUSID
ALIAS
SLAC2-B,SLAC2B
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23086
MIM: 612878
HGNC: 30578
Ensembl: ENSG00000110723
Variants:
dbSNP: 23086
ClinVar: 23086
TCGA: ENSG00000110723
COSMIC: EXPH5
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36746116 | 2023 | Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis. | 6 |
| 36746116 | 2023 | Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis. | 6 |
| 32890627 | 2021 | Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration. | 5 |
| 33554392 | 2021 | SLAC2B-dependent microtubule acetylation regulates extracellular matrix-mediated intracellular TM4SF5 traffic to the plasma membranes. | 1 |
| 32890627 | 2021 | Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration. | 5 |
| 33554392 | 2021 | SLAC2B-dependent microtubule acetylation regulates extracellular matrix-mediated intracellular TM4SF5 traffic to the plasma membranes. | 1 |
| 30016581 | 2018 | Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. | 11 |
| 30016581 | 2018 | Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. | 11 |
| 26211931 | 2016 | Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. | 2 |
| 27384765 | 2016 | Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. | 8 |
| 26211931 | 2016 | Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. | 2 |
| 27384765 | 2016 | Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. | 8 |
| 24005056 | 2014 | Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations. | 4 |
| 24005056 | 2014 | Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations. | 4 |
| 23176819 | 2012 | Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. | 17 |
Citation
Dessen P
EXPH5 (exophilin 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62956/exph5-(exophilin-5)
