EXPH5 - exophilin 5 Gene

Homo sapiens

Also known as EBS4; SLAC2B; SLAC2-B

Gene ID: 23086 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04606	EXPH5 Human Pre-designed siRNA Set A		/	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

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