1. Gene
  2. DSG3 - desmoglein 3 Gene

DSG3 - desmoglein 3 Gene

中文名称:桥粒芯糖蛋白 3

种属: Homo sapiens

同用名: PVA; ABOLM; CDHF6

基因 ID: 1830 | 基因类型: protein coding

关于 DSG3

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,447,741-31,478,702 (from NCBI)

This gene has 1 transcript (splice variant), 390 orthologues, 6 paralogues and is associated with 1 phenotype. Restricted expression toward esophagus (RPKM 200.1).

功能概要

该基因编码桥粒芯糖蛋白家族和钙粘蛋白细胞粘附分子蛋白质超家族的成员。桥粒核心糖蛋白是桥粒的钙结合跨膜糖蛋白成分,桥粒是上皮细胞、心肌细胞和其他细胞类型之间的细胞-细胞连接。编码的前原蛋白经过蛋白水解处理以生成成熟的糖蛋白。该基因与 18 号染色体上的其他桥粒芯糖蛋白基因家族成员存在于基因簇中。编码的蛋白质已被鉴定为自身免疫性水疱病寻常型天疱疮的自身抗原。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and Other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with Other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]

DSG3 基因产物(1)

mRNA Protein Name
NM_001944.3 NP_001935.2 desmoglein-3 preproprotein
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11790773 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
30949721 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

DSG3 蛋白结构

Cadherin

Cadherin: Cadherin domain (60 - 147)

Cadherin

Cadherin: Cadherin domain (164 - 257)

Cadherin

Cadherin: Cadherin domain (272 - 374)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (800 - 859)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 999 a.a.
蛋白主名 其他名称

desmoglein-3

130 kDa pemphigus vulgaris antigen

重组 DSG3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72174 DSG3 Protein, Human (His-SUMO) P32926 (E50-R615) ≥95%
HY-P700469 DSG3 Protein, Human (Baculovirus, His) P32926 (E50-R615) ≥95%

关联疾病

疾病名称 别名
Blistering, Acantholytic, Of Oral And Laryngeal Mucosa

ABOLM

Pemphigus
Pemphigus Vulgaris, Familial

Pemphigus Vulgaris

Familial Pemphigus Vulgaris

Pemphigus

Pemphigus Foliaceus

Pemphigus Foliaceous

Pf

Superficial Pemphigus

Herpetiform Pemphigus
Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Bullous Pemphigoid

Benign Pemphigus

Senile Dermatitis Herpetiformis

Old Age Pemphigus

Parapemphigus

Pemphigoid

Pemphigoid Bullous

Pemphigoid, Bullous

Impetigo
Pemphigoid
Aphthous Stomatitis

Oral Ulcer

Canker Sore

Aphtha

Aphthous Ulceration

Oral Aphthae

Oral Aphthous Ulcer

Canker Sores

Stomatitis, Aphthous

Minor Oral Aphthous Ulceration

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis

Sneddon-Wilkinson Disease Or Syndrome

Pustulosis Subcornealis

Sneddon-Wilkinson Disease

Skin Diseases, Vesiculobullous

Vesiculobullous Skin Disease

Lichen Planus

Lichen Ruber Planus

Lichen, Ruber Planus

Ruber Planus

Lp - [Lichen Planus]

Lichen Planus Of Wilson

Wilson Lichen Ruber

Pemphigus Erythematosus

Seborrheic Pemphigus

Senear-Usher Syndrome

Iga Pemphigus
Paraneoplastic Pemphigus
Bullous Impetigo
Ritter'S Disease

Staphylococcal Scalded Skin Syndrome

Pemphigus Neonatorum

Ritter Disease

Dermatitis Exfoliativa Neonatorum

Scalded Skin Syndrome

Toxic Epidermal Necrolysis, Subcorneal Type

Generalized Exfoliative Disease

Ssss

Ssss - [Staphylococcal Scalded Skin Syndrome]

Castleman Disease

Angiofollicular Ganglionic Hyperplasia

Angiofollicular Lymph Hyperplasia

Giant Lymph Node Hyperplasia

Castleman'S Disease

Angiofollicular Lymph Node Hyperplasia

Lymphoid Hamartoma

Benign Giant Lymphoma

Angiolymphoid Hyperplasia

Autoimmune Disease Of Skin And Connective Tissue
Pemphigoid Gestationis

Herpes Gestationis

Gestational Pemphigoid

Gestational Herpes

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

Pemphigus Gestationis
Pseudomembranous Conjunctivitis
Hidradenitis

Hydradenitis

Lichen Disease
Benign Chronic Pemphigus

Hailey-Hailey Disease

Pemphigus, Benign Familial

Familial Benign Pemphigus

Benign Familial Pemphigus

Familial Benign Chronic Pemphigus

BCPM

HHD

Benign Chronic Familial Pemphigus Of Hailey-Hailey

Pemphigus, Chronic, Benign

Tinea Corporis

Dermatophytosis Of The Body

Dermatophytosis Of The Trunk

Cicatricial Pemphigoid

Mucous Membrane Pemphigoid

Ocular Pemphigoid

Benign Mucous Membrane Pemphigoid

Benign Mucous Membrane Pemphigoid With Ocular Involvement

Benign Mucosal Pemphigoid

Pemphigoid, Benign Mucous Membrane

Cicatricial Pemphigoid With Ocular Involvement

Ocular Pemphigus

Cicatricial Pemphigoid Disease

Mucosal Pemphigoid

Mucosynechial Pemphigoid

Pemphigoid Cicatricial

Cicatricial Pemphigoid Involving The Eye

Ocular Cicatricial Pemphigoid

Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental

Adenoid Squamous Cell Carcinoma

Acantholytic Squamous Cell Carcinoma

Adenocarcinoma With Squamous Metaplasia

Adenoacanthoma

Pseudoglandular Squamous Carcinoma

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Keratoacanthoma

Ka - [Keratoacanthoma]

Well-Differentiated Squamous Cell Carcinoma

Integumentary System Disease
Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Autoimmune Disease Of Musculoskeletal System
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

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

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
Mus musculus DSG3 MGD MGI:99499
Bos taurus DSG3 VGNC VGNC:28222
Canis familiaris DSG3 VGNC VGNC:40107
Macaca mulatta DSG3 VGNC VGNC:72003
Rattus norvegicus DSG3 RGD RGD:1592103
Others DSG3 NCBI