1. Gene
  2. LAMC2 - laminin subunit gamma 2 Gene

LAMC2 - laminin subunit gamma 2 Gene

中文名称:层粘连蛋白亚基γ2

种属: Homo sapiens

同用名: B2T; CSF; EBR2; BM600; EBR2A; JEB3A; JEB3B; LAMB2T; LAMNB2

基因 ID: 3918 | 基因类型: protein coding

关于 LAMC2

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,186,264-183,258,968 (from NCBI)

This gene has 4 transcripts (splice variants), 151 orthologues, 27 paralogues and is associated with 6 phenotypes. Broad expression in lung (RPKM 14.0), thyroid (RPKM 10.4) and 16 other tissues.

功能概要

层粘连蛋白是细胞外基质糖蛋白家族,是基底膜的主要非胶原成分。它们涉及多种生物过程,包括细胞粘附、分化、迁移、信号传导、神经突生长和转移。层粘连蛋白,由 3 条不相同的链组成:层粘连蛋白 alpha、beta 和 gamma (以前分别为 A、B1 和 B2) ,具有十字形结构,由 3 个短臂组成,每个短臂由不同的链组成,长臂由所有 3 条链。每条层粘连蛋白链都是由不同基因编码的多结构域蛋白质。已经描述了每条链的几种亚型。不同的 alpha、beta 和 gamma 链异构体结合产生不同的异源三聚体层粘连蛋白亚型,这些异构体按发现顺序用阿拉伯数字表示,即 alpha1beta1gamma1 异源三聚体是层粘连蛋白 1。不同链和三聚体分子的生物学功能在很大程度上是未知的, 但一些链已被证明在组织分布方面有所不同, 可能反映了体内的不同功能。该基因编码伽马链亚型层粘连蛋白,伽马 2。伽马 2 链,以前被认为是 β 链 (B2t) 的截短版本,与伽马 1 链高度同源;但是,它缺少域 VI,并且域 V、IV 和 III 更短。它在几种胎儿组织中表达,但与 γ1 不同,并且特别定位于皮肤、肺和肾中的上皮细胞。 γ 2 链与 alpha 3 和 beta 3 链一起构成层粘连蛋白 5 (以前称为 kalinin) ,它是将上皮细胞连接到下面的基底膜的锚定丝的组成部分。 γ 2 链的上皮细胞特异性表达暗示其作为上皮细胞附着分子的作用,并且该基因的突变与交界性大疱性表皮松解症有关,这是一种皮肤病,其特征是由于表皮-真皮交界处的破坏而出现水泡。已经描述了由 3' 末端外显子的选择性剪接产生的两个转录本变体,并编码了 γ 2 链的不同异构体。这两种变体在胚胎组织中差异表达,然而,这两种形式的生物学意义尚不清楚。文献中也提到了利用替代 polyA_signal 的转录变体。[RefSeq 提供,2011 年 8 月]

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]

LAMC2 基因产物(2)

mRNA Protein Name
NM_005562.3 NP_005553.2 laminin subunit gamma-2 isoform a precursor
NM_018891.3 NP_061486.2 laminin subunit gamma-2 isoform b precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
24091622 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
24091622 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

LAMC2 蛋白结构

Laminin_EGF

Laminin_EGF: Laminin EGF domain (28 - 81)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (84 - 128)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (139 - 184)

Laminin_B

Laminin_B: Laminin B (Domain IV) (250 - 380)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (381 - 405)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (462 - 505)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (517 - 570)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (573 - 604)

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  • 1193 a.a.
蛋白主名 其他名称

laminin subunit gamma-2

BM600-100kDa

关联疾病

疾病名称 别名
Epidermolysis Bullosa, Junctional 3a, Intermediate

JEB3A

Epidermolysis Bullosa, Junctional 3a, Generalized Intermediate

Epidermolysis Bullosa, Junctional 3a, Non-Herlitz Type

Epidermolysis Bullosa, Junctional 3b, Severe

JEB3B

Epidermolysis Bullosa, Junctional 3b, Generalized Severe

Epidermolysis Bullosa, Junctional 3b, Herlitz Type

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, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type

Epidermolysis Bullosa Letalis

JEB1B

Epidermolysis Bullosa Junctionalis, Herlitz Type

Jeb-Herlitz Type

Herlitz-Pearson-Type Epidermolysis Bullosa

Junctional Epidermolysis Bullosa Herlitz Type

Jeb-H

Junctional Epidermolysis Bullosa Generalisata Gravis

Junctional Epidermolysis Bullosa, Herlitz-Pearson Type

Epidermolysis Bullosa, Junctional, Generalized Severe

Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type

Herlitz Type Epidermolysis Bullosa Junctionalis

Severe Generalized Junctional Epidermolysis Bullosa

Junctional Epidermolysis Bullosa, Herlitz Type

Severe Generalized Jeb

Epidermolysis Letalis

Junctional Epidermolysis Bullosa Gravis

Junctional Epidermolysis Bullosa Herlitz-Pearson Type

Herlitz Disease

Epidermolysis Bullosa, Junctional 1a, Intermediate

Jeb-I

JEB1A

Epidermolysis Bullosa Junctionalis, Disentis Type

Junctional Epidermolysis Bullosa Inversa

Generalized Atrophic Benign Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate

Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Progressive

Epidermolysis Bullosa Junctionalis, Severe Nonlethal

Localized Junctional Epidermolysis Bullosa

Jeb-Nh Loc

Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type

Localized Jeb

Intermediate Generalized Junctional Epidermolysis Bullosa

Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type

Intermediate Generalized Jeb

Junctional Epidermolysis Bullosa Generalisata Mitis

Junctional Epidermolysis Bullosa, Disentis Type

Jeb Inversa

Epidermolysis Bullosa Atrophicans Generalisata Mitis

Epidermolysis Bullosa Junctionalis Disentis Type

Epidermolysis Bullosa Junctionalis Progressive

Epidermolysis Bullosa Junctionalis Severe Non-Lethal

Gabeb

Generalized Junctional Epidermolysis Bullosa Mitis

Non-Herlitz Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Inversa Dystrophica

Junctional Epidermolysis Bullosa Non-Herlitz Type

Junctional Epidermolysis Bullosa, Non-Herlitz Type

Gabeb

Generalized Atrophic Benign Epidermolysis Bullosa

Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type

Jeb-Nh Gen

Jen-Nh

Junctional Epidermolysis Bullosa Generalisata Mitis

Junctional Epidermolysis Bullosa, Disentis Type

Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Epidermolysis Bullosa

Acantholysis Bullosa

Eb

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

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

Bullous Pemphigoid

Benign Pemphigus

Senile Dermatitis Herpetiformis

Old Age Pemphigus

Parapemphigus

Pemphigoid

Pemphigoid Bullous

Pemphigoid, Bullous

Pyloric Atresia
Lichen Planus

Lichen Ruber Planus

Lichen, Ruber Planus

Ruber Planus

Lp - [Lichen Planus]

Lichen Planus Of Wilson

Wilson Lichen Ruber

Cryptogenic Organizing Pneumonia

Bronchiolitis Obliterans Organizing Pneumonia

Boop

Constrictive Bronchiolitis

Cryptogenic Organizing Pneumonitis

Cop

Bronchiolitis Obliterans Organising Pneumonia

Cryptogenic Organising Pneumonia

Cryptogenic Organising Pneumonitis

Idiopathic Bronchiolitis Obliterans With Organising Pneumonia

Idiopathic Bronchiolitis Obliterans With Organizing Pneumonia

Organizing Pneumonia

Idiopathic Boop

Idiopathic Bronchiolitis Obliterans Organizing Pneumonia

Organized Pneumonia

Cervical Adenocarcinoma

Adenocarcinoma Cervix Uteri

Adenocarcinoma Of Cervix

Adenocarcinoma Of The Uterine Cervix

Adenocarcinoma Of The Cervix Uteri

Epidermolysis Bullosa Acquisita

Acquired Epidermolysis Bullosa

Eb Acquisita

Eba

Eba - [Epidermolysis Bullosa Acquisita]

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Epidermolysis Bullosa Simplex Generalized Type

Epidermolysis Bullosa Simplex, Koebner Type

Epidermolysis Bullosa Simplex Koebner Type

Epidermolysis Bullosa Simplex, Generalized

Ebs, Generalized

Ebs-K

Epidermolysis Bullosa Simplex, Generalized Non-Dowling-Meara

Generalized Ebs

Epidermolysis Bullosa Simplex Kobner

Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

Junctional Epidermolysis Bullosa With Pyloric Atresia

Carmi Syndrome

Epidermolysis Bullosa, Junctional, With Pyloric Atresia

Jeb-Pa

JEB5B

Epidermolysis Bullosa Junctionalis With Pyloric Atresia

Aplasia Cutis Congenita With Gastrointestinal Atresia

Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita

Eb-Pa-Acc

Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome

Jeb With Pyloric Atresia

Epidermolysis Bullosa Letalis, With Pyloric Atresia

Pa-Jeb

Epidermolysis Bullosa With Pyloric Atresia

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

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 LAMC2 VGNC VGNC:68012
Bos taurus LAMC2 VGNC VGNC:30774
Rattus norvegicus LAMC2 RGD RGD:621053
Canis familiaris LAMC2 VGNC VGNC:42572
Macaca mulatta LAMC2 VGNC VGNC:74233
Mus musculus LAMC2 MGD MGI:99913