EXPH5 (exophilin 5)

2014-11-01  

Identity

HGNC
EXPH5
LOCATION
11q22.3
LOCUSID
23086
ALIAS
SLAC2-B,SLAC2B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23086
MIM: 612878
HGNC: 30578
Ensembl: ENSG00000110723

Variants:

dbSNP: 23086
ClinVar: 23086
TCGA: ENSG00000110723
COSMIC: EXPH5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110723ENST00000265843Q8NEV8
ENSG00000110723ENST00000524840A0A087WZJ0
ENSG00000110723ENST00000525344Q8NEV8
ENSG00000110723ENST00000526312E9PPH6
ENSG00000110723ENST00000531386E9PIT1
ENSG00000110723ENST00000533052F5GXG5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
117730822002The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain.54
231768192012Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.10
273847652016Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.4
240050562014Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.3
300165812018Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.3
262119312016Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.2

Citation

Dessen P

EXPH5 (exophilin 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62956/exph5