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  2. EVPL - envoplakin Gene

EVPL - envoplakin Gene

中文名称:包膜素

种属: Homo sapiens

同用名: EVPK

基因 ID: 2125 | 基因类型: protein coding

关于 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.

功能概要

该基因编码形成桥粒和表皮角质化包膜成分的 plakin 蛋白家族成员。该基因位于染色体 17q25 上的 tylosis 食管癌位点,其缺失与家族性和散发性食管鳞状细胞癌有关。患有自身免疫性粘膜皮肤病、副肿瘤性天疱疮的患者会产生针对编码蛋白的抗体。[RefSeq 提供,2016 年 7 月]

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 基因产物(2)

mRNA Protein Name
NM_001320747.2 NP_001307676.1 envoplakin isoform 1
NM_001988.4 NP_001979.2 envoplakin isoform 2
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in keratinocyte differentiation IDA
IDA: 通过直接分析推断
10908733 GOA
involved in peptide cross-linking IDA
IDA: 通过直接分析推断
10908733 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cornified envelope IDA
IDA: 通过直接分析推断
10908733 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

EVPL 蛋白结构

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.
蛋白主名 其他名称

envoplakin

210 kDa cornified envelope precursor protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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