EVPL - envoplakin Gene

Also Known as EVPK

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2125

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
Biological Process GO Annotation Evidence References 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 References 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

Plectin: Plectin repeat (1682 - 1720)

Plectin

Plectin: Plectin repeat (1827 - 1862)

Plectin

Plectin: Plectin repeat (1856 - 1900)

Plectin

Plectin: Plectin repeat (1894 - 1929)

Plectin

Plectin: Plectin repeat (1933 - 1975)

  • 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

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
Others EVPL NCBI