LAMB2 - laminin subunit beta 2 Gene

中文名称：层粘连蛋白亚基β2

种属: Homo sapiens

同用名: LAMS; NPHS5; PIERS

基因 ID: 3913 | 基因类型: protein coding

关于 LAMB2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,121,114-49,133,050 (from NCBI)

This gene has 19 transcripts (splice variants), 198 orthologues, 27 paralogues and is associated with 6 phenotypes. Ubiquitous expression in heart (RPKM 75.8), placenta (RPKM 62.9) and 24 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) ，形成十字形结构，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 β 链亚型层粘连蛋白，β 2。β 2 链包含层粘连蛋白 β 链典型的 7 个结构域，包括短 α 区域。然而，与 beta 1 链不同，beta 2 的组织分布更为有限。它富含神经肌肉接头、肾小球和血管平滑肌的肌肉基底膜。通过同源重组使 β 2 链基因失活的转基因小鼠表现出神经肌肉接头成熟缺陷和肾小球滤过障碍。已经报道了该基因 5' UTR 中涉及非共识 5' 剪接位点 (gc) 的可变剪接。有人提出，不改变蛋白质序列的第一个内含子的低效剪接导致转录本的未剪接形式比剪接形式的丰度更高。拼接转录本的全长性质尚不清楚。[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), form 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 beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]

LAMB2 基因产物(1)

mRNA	Protein	Name
NM_002292.4	NP_002283.3	laminin subunit beta-2 precursor

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	32296183	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in basement membrane	IDA IDA: 通过直接分析推断	2099832	GOA
part of laminin-3 complex	IPI IPI: 通过物理相互作用推断	10964500	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

LAMB2 蛋白结构

Laminin_N

Laminin_EGF

0
300
600
900
1200
1500
1798 a.a.

蛋白主名

其他名称

laminin subunit beta-2

S-LAM beta

LAMB2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	LAMB2	P55268	TSR2	Homo sapiens	Q969E8	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome	Microcoria-Congenital Nephrosis Syndrome
PIERS	Microcoria - Congenital Nephrosis
Microcoria - Congenital Nephrotic Syndrome	PIERSS

Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities

NPHS5	Nephrotic Syndrome Type 5
Nephrotic Syndrome Type 5, With Or Without Ocular Abnormalities	Nephrotic Syndrome 5 With Or Without Ocular Abnormalities
Nephrotic Syndrome, Type 5, With/Without Ocular Abnormalities

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency	Congenital Myasthenic Syndrome 5
CMS5	Ead
Engel Congenital Myasthenic Syndrome	Myasthenic Syndrome, Congenital, Engel Type
Cms Ic	Congenital Myasthenic Syndrome Type Ic
Congenital Myasthenic Syndrome Type Ic, Formerly	Cms1c, Formerly
Cms Ic, Formerly	Congenital Myasthenic Syndrome Engel Type
End Plate Acetylcholinesterase Deficiency	Synaptic Congenital Myasthenic Syndromes
Cms1c	Cmse
Congenital Myasthenic Syndrome Type 1c	End-Plate Acetylcholinesterase Deficiency
Myasthenic Syndrome, Congenital, Type 5

Diffuse Mesangial Sclerosis

Familial Mesangial Sclerosis	Mesangial Sclerosis, Diffuse
Dms	Diffuse Isolated Mesangial Sclerosis
Isolated Diffuse Mesangial Sclerosis	Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Focal Segmental Glomerulosclerosis 9

FSGS9	Glomerulosclerosis, Focal Segmental, 9
Glomerulosclerosis, Focal Segmental, Type 9

Focal Segmental Glomerulosclerosis 8

FSGS8	Glomerulosclerosis, Focal Segmental, 8
Glomerulosclerosis, Focal Segmental, Type 8

Focal Segmental Glomerulosclerosis 7

FSGS7	Glomerulosclerosis, Focal Segmental, 7
Glomerulosclerosis, Focal Segmental, Type 7

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Focal Segmental Glomerulosclerosis 6

FSGS6	Glomerulosclerosis, Focal Segmental, 6
Glomerulosclerosis, Segmental, Focal, Type 6

Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome

Barakat Syndrome	Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia
Hdr Syndrome	Nephrosis, Nerve Deafness, And Hypoparathyroidism
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease	HDR
HDRS	Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome	Nephrosis
Nephrotic Syndrome

Focal Segmental Glomerulosclerosis 5

FSGS5	Glomerulosclerosis, Focal Segmental, 5
Glomerulosclerosis, Segmental, Focal, Type 5

Focal Segmental Glomerulosclerosis 2

FSGS2	Glomerulosclerosis, Focal Segmental, 2
Glomerulosclerosis, Segmental, Focal, Type 2

Taylor'S Syndrome

Pelvic Congestion Syndrome	Congestion-Fibrosis Syndrome
Taylor Syndrome

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome	Nephrosis, Congenital
Finnish Congenital Nephrotic Syndrome

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Hypotonia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07503	LAMB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	LAMB2	VGNC	VGNC:42568
Felis catus	LAMB2	VGNC	VGNC:68007
Mus musculus	LAMB2	MGD	MGI:99916
Macaca mulatta	LAMB2	VGNC	VGNC:74229
Rattus norvegicus	LAMB2	RGD	RGD:2988

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

LAMB2 - laminin subunit beta 2 Gene

关于 LAMB2

功能概要

LAMB2 基因产物(1)

LAMB2 蛋白结构

LAMB2 蛋白互作信息

关联疾病

直系同源

热门区域

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LAMB2 - laminin subunit beta 2 Gene

关于 LAMB2

功能概要

LAMB2 基因产物(1)

LAMB2 蛋白结构

LAMB2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z