EXPH5 - exophilin 5 Gene

Also Known as EBS4; SLAC2B; SLAC2-B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23086

About EXPH5

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:108,505,435-108,607,536 (from NCBI)

This gene has 6 transcripts (splice variants), 118 orthologues and is associated with 3 phenotypes. Biased expression in skin (RPKM 9.2), esophagus (RPKM 2.8) and 9 other tissues.

Summary

The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

EXPH5 Products (5)

mRNA Protein Name
NM_001144763.2 NP_001138235.1 exophilin-5 isoform 4
NM_001144764.2 NP_001138236.1 exophilin-5 isoform 5
NM_001144765.2 NP_001138237.1 exophilin-5 isoform 3
NM_001308019.2 NP_001294948.1 exophilin-5 isoform 2
NM_015065.3 NP_055880.2 exophilin-5 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables small GTPase binding IPI
IPI: Inferred from physical interaction
16880209 GOA
Biological Process GO Annotation Evidence References Source
involved in keratinocyte development IMP
IMP: Inferred from mutant phenotype
23176819 GOA
involved in multivesicular body sorting pathway IMP
IMP: Inferred from mutant phenotype
19966785 GOA
involved in positive regulation of exocytosis IMP
IMP: Inferred from mutant phenotype
19966785 GOA
involved in positive regulation of protein secretion IMP
IMP: Inferred from mutant phenotype
19966785 GOA
Cellular Component GO Annotation Evidence References Source
located in endosome IDA
IDA: Inferred from direct assay
19966785 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

exophilin-5

  • slp homolog lacking C2 domains b

Related Diseases

Diseases Alias
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive

  • EBS4

  • Epidermolysis Bullosa Simplex Due To Exophilin 5 Deficiency

  • Ebs Due To Exophilin 5 Deficiency
Epidermolysis Bullosa Simplex

  • Ebs

  • Epidermolysis Bullosa Intraepidermic

  • Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa

  • Acantholysis Bullosa

  • Eb
Transient Bullous Dermolysis Of The Newborn

  • TBDN

  • Transient Bullous Of The Newborn

  • Epidermolysis Bullosa Dystrophica, Neonatal Form

  • Dystrophic Epidermolysis Bullosa, Neonatal

  • Deb, Bullous Dermolysis Of The Newborn

  • Deb-Bdn

  • Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form

  • Self-Improving Dystrophic Epidermolysis Bullosa

  • Self-Improving Deb

  • Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

  • Epidermolysis Bullosa Simplex With Mottled Pigmentation

  • Ebsmp

  • Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

  • Ebs-Mp

  • EBS2F

  • Ebs With Mottled Pigmentation

  • Epidermolysis Bullosa Simplex-Mp

  • Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

  • Epidermolysis Bullosa Simplex, With Mottled Pigmentation
Epidermolysis Bullosa Simplex 1a, Generalized Severe

  • Epidermolysis Bullosa Simplex, Dowling-Meara Type

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

  • EBS1A

  • Ebsdm

  • Epidermolysis Bullosa Simplex Dowling-Meara Type

  • Epidermolysis Bullosa Simplex, Herpetiformis

  • Ebs-Dm

  • Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

  • Ebs-Gen Sev

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

  • Generalized Severe Epidermolysis Bullosa Simplex

  • Dowling-Meara Type Epidermolysis Bullosa Simplex

  • Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

  • Autosomal Dominant Generalized Ebs, Severe Form

  • Epidermolysis Bullosa Simplex Herpetiformis

  • Dm-Ebs

  • Epidermolysis Bullosa Simplex, Generalized Severe

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara
Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa, Junctional

  • Jeb

  • Epidermolysis Bullosa Atrophicans

  • Congenital Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa Junctional

  • Junctional Eb - [Epidermolysis Bullosa]

  • Jeb - [Junctional Epidermolysis Bullosa]

  • Lucidolytic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica

  • Dystrophic Epidermolysis Bullosa

  • Deb

  • Dermolytic Epidermolysis Bullosa

  • Epidermolysis Bullosa, Dermolytic

  • Epidermolysis Bullosa, Dystrophic

  • Epidermolysis Bullosa Dystrophic

  • Dystrophic Eb - [Epidermolysis Bullosa]
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04606 EXPH5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22498 Exph5 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29021 Exph5 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus EXPH5 VGNC VGNC:28664
Mus musculus EXPH5 MGD MGI:2443248
Rattus norvegicus EXPH5 RGD RGD:1560308
Macaca mulatta EXPH5 VGNC VGNC:72412
Felis catus EXPH5 VGNC VGNC:105844
Canis familiaris EXPH5 VGNC VGNC:40530
Others EXPH5 NCBI