EVPL - envoplakin Gene

Homo sapiens

Also known as EVPK

Gene ID: 2125 | Gene type: protein coding

About EVPL

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,006,845-76,027,306 (from NCBI)

This gene has 5 transcripts (splice variants), 272 orthologues and 2 paralogues. Biased expression in skin (RPKM 47.9), esophagus (RPKM 41.4) and 9 other tissues.

Summary

This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal Cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop Antibodies against the encoded protein. [provided by RefSeq, Jul 2016]

EVPL Products(2)

mRNA	Protein	Name
NM_001320747.2	NP_001307676.1	envoplakin isoform 1
NM_001988.4	NP_001979.2	envoplakin isoform 2

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in keratinocyte differentiation	IDA IDA: Inferred from direct assay	10908733	GOA
involved in peptide cross-linking	IDA IDA: Inferred from direct assay	10908733	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cornified envelope	IDA IDA: Inferred from direct assay	10908733	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

EVPL Protein Structure

Plectin

0
400
800
1200
1600
2033 a.a.

Protein Preferred Names

Protein Names

envoplakin

210 kDa cornified envelope precursor protein

Related Diseases

Diseases

Alias

Paraneoplastic Pemphigus

Pemphigus

Pemphigus Foliaceus

Pemphigus Foliaceous	Pf
Superficial Pemphigus

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris	Familial Pemphigus Vulgaris
Pemphigus

Bullous Pemphigoid

Benign Pemphigus	Senile Dermatitis Herpetiformis
Old Age Pemphigus	Parapemphigus
Pemphigoid	Pemphigoid Bullous
Pemphigoid, Bullous

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Palmoplantar Keratoderma, Epidermolytic

Epidermolytic Palmoplantar Keratoderma	EPPK
Keratosis Palmaris Et Plantaris Familiaris	Tylosis
Keratosis Of Greither	Diffuse Nonepidermolytic Palmoplantar Keratoderma
Keratoderma, Palmoplantar, Epidermolytic	Unna-Thost Palmoplantar Keratoderma
Epidermolytic Palmoplantar Keratoderma Of Voerner	Ppke
Keratoderma, Epidermolytic Palmoplantar	Palmoplantar Keratoderma, Vorner Type
Hyperkeratosis, Localized Epidermolytic	Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type
Epidermolytic Palmoplantar Keratoderma Of Vörner	Hyperkeratosis Palmoplantar Localized Epidermolytic
Diffuse Neppk	Ppk Diffusa Circumscripta
Thost-Unna Disease	Thost-Unna Palmoplantar Keratoderma
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type	Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type
Epidermolytic Palmoplantar Keratoderma Of Vorner	Ehppk
Epidermolytic Unna-Thost Disease	Localized Epidermolytic Hyperkeratosis
Palmoplantar Keratoderma Vorner Type	Unilateral Palmoplantar Verrucous Nevus
UPVN	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis	Palmoplantar Keratoderma, Nonepidermolytic
Epidermolytic Palmoplantar Keratoderma Vorner Type	Type B Tylosis
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Type A Tylosis

Thymoma

Primary Thymic Epithelial Neoplasm	Primary Thymic Epithelial Tumor
Thymus Neoplasms

Bronchiolitis Obliterans

Bronchiolitis Fibrosa Obliterans	Obliterative Bronchiolitis
Bronchiolitis Exudativa	Bronchiolitis, Exudative

Pemphigoid

Pseudomembranous Conjunctivitis

Iga Pemphigus

B-Cell Adult Acute Lymphocytic Leukemia

Adult B Acute Lymphoblastic Leukemia	Adult B Acute Lymphoblastic Leukaemia
Adult B-Cell Acute Lymphoblastic Leukaemia	Adult B-Cell Acute Lymphoblastic Leukemia
Adult B-Cell Lymphocytic Leukaemia	Adult B-Cell Lymphocytic Leukemia
Adult B-Lymphoblastic Leukaemia	Adult B-Lymphoblastic Leukemia
B-Cell Adult Acute Lymphocytic Leukaemia	B-Cell Adult Acute Lymphoblastic Leukemia

Chronic Monocytic Leukemia

Leukemia, Myeloid

Leukemia, Monocytic, Chronic

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis	Sneddon-Wilkinson Disease Or Syndrome
Pustulosis Subcornealis	Sneddon-Wilkinson Disease
Skin Diseases, Vesiculobullous	Vesiculobullous Skin Disease

Pemphigoid Gestationis

Herpes Gestationis	Gestational Pemphigoid
Gestational Herpes

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Focal Nonepidermolytic Palmoplantar Keratoderma	Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma
FNEPPK1	Ppkfne
Keratoderma, Focal Nonepidermolytic Palmoplantar	Palmoplantar Keratoderma, Nonepidermolytic, Focal
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Fneppk
Focal Nonepidermolytic Palmoplantar Keratoderma 1	Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1

B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1

B-All With Bcr-Abl1	B-Lymphoblastic Leukemia/Lymphoma With T(9
22)(Q34.1	Q11.2)
Bcr-Abl1	B Lymphoblastic Leukemia/Lymphoma With T(9
22)(Q34.1	Q11.2)
Bcr-Abl1

Acute Basophilic Leukemia

Xeroderma Pigmentosum, Complementation Group B

Xeroderma Pigmentosum Group B	Xeroderma Pigmentosum, Group B
XPB	Xpbc
Xp Group B	Xp, Group B
Xeroderma Pigmentosum Complementation Group B	XP-B
Xeroderma Pigmentosum Group B With Cockayne Syndrome	Xeroderma Pigmentosum Ii
Xp2	Xp-B/Cs

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

Lichen Disease

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia	Chronic Myelogenous Leukemia
CML	Chronic Granulocytic Leukemia
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib	Chronic Myeloid Leukaemia
Chronic Granulocytic Leukaemia	Chronic Myelogenous Leukaemia
Myeloid Leukemia, Chronic	Leukemia, Chronic Myelogenous
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic	Cml - Chronic Myelogenous Leukemia
Cgl	Chronic Myelocytic Leukemia
Leukemia, Chronic Myeloid, Atypical	ACML
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative	Myeloid Leukemia Chronic
Leukemia, Myeloid, Chronic	Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
Cml- [Chronic Myeloid Leukaemia]	Cgl - [Chronic Granulocytic Leukaemia]
Chronic Myelocytic Leukaemia

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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-RS04578	EVPL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EVPL	VGNC	VGNC:97423
Bos taurus	EVPL	VGNC	VGNC:55823
Mus musculus	EVPL	MGD	MGI:107507
Macaca mulatta	EVPL	VGNC	VGNC:97766
Rattus norvegicus	EVPL	RGD	RGD:1306141
Canis familiaris	EVPL	VGNC	VGNC:51954

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