2. Gene
  3. LEMD2 - LEM domain nuclear envelope protein 2 Gene

LEMD2 - LEM domain nuclear envelope protein 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：LEM 结构域核膜蛋白 2

种属: Homo sapiens

同用名: LEM2; NET25; MARUPS; CTRCT42; dJ482C21.1

基因 ID: 221496 | 基因类型: protein coding

关于 LEMD2

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:33,771,213-33,789,130 (from NCBI)

This gene has 14 transcripts (splice variants), 133 orthologues, 2 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 4.6), spleen (RPKM 4.4) and 25 other tissues.

功能概要

该基因编码含有 LEM 结构域的内核膜跨膜蛋白。该蛋白质参与核结构组织，并在细胞信号传导和分化中发挥作用。该基因的突变导致青少年发病的白内障 46。已发现该基因的多个转录变体。[RefSeq 提供，2017 年 2 月]

This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]

LEMD2 基因产物(4)

mRNA Protein Name
NM_001143944.1 NP_001137416.1 LEM domain-containing protein 2 isoform 2
NM_001348709.2 NP_001335638.1 LEM domain-containing protein 2 isoform 2
NM_001348710.2 NP_001335639.1 LEM domain-containing protein 2 isoform 3
NM_181336.4 NP_851853.1 LEM domain-containing protein 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 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
28242692 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nuclear envelope organization IMP
IMP: 通过突变表型推断
17097643 GOA
involved in protein localization to chromatin IMP
IMP: 通过突变表型推断
28242692 GOA
acts upstream of or within skeletal muscle cell differentiation IGI
IGI: 通过遗传相互作用推断
19720741 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
28242692 GOA
colocalizes with endoplasmic reticulum IDA
IDA: 通过直接分析推断
28242692 GOA
colocalizes with nuclear envelope IDA
IDA: 通过直接分析推断
28242692 GOA
located in nuclear inner membrane IDA
IDA: 通过直接分析推断
16339967 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

LEMD2 蛋白结构

LEM

LEM: LEM domain (3 - 39)

MSC

MSC: Man1-Src1p-C-terminal domain (258 - 495)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 503 a.a.
蛋白主名 其他名称

LEM domain-containing protein 2

LEM domain containing 2

关联疾病

疾病名称 别名
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy

CTRCT46

Cataract 46 Juvenile-Onset

Cataract, Juvenile, Hutterite Type

Cataract Hutterite Type

Cataract 46, Juvenile-Onset

Juvenilae Cataract Hutterite Type

Cataract, Type 46, Juvenile-Onset
Marbach-Rustad Progeroid Syndrome

MARUPS
Cataract Hutterite Type
Early-Onset Posterior Subcapsular Cataract
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Teeth, Supernumerary

Supernumerary Teeth
Exophthalmos

Proptosis
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Progeroid Syndrome
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Arrhythmogenic Right Ventricular Dysplasia 11

ARVD11

Arrhythmogenic Right Ventricular Cardiomyopathy 11

Arvc11

Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair

Familial Arrhythmogenic Right Ventricular Dysplasia 11

Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair

ARVD11PK

Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11
Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]
Emery-Dreifuss Muscular Dystrophy 1, X-Linked

EDMD1

Emd1

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

X-Linked Emery-Dreifuss Muscular Dystrophy 1

Humeroperoneal Neuromuscular Disease

X-Linked Emery-Dreifuss Muscular Dystrophy

Scapuloperoneal Syndrome, X-Linked, Formerly

Humeroperoneal Neuromuscular Disease, Formerly

Scapuloperoneal Syndrome, X-Linked

Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures

Scapuloperoneal Syndrome X-Linked

X-Edmd

Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07588 LEMD2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus LEMD2 MGD MGI:2385045
Canis familiaris LEMD2 VGNC VGNC:42632
Felis catus LEMD2 VGNC VGNC:102447
Macaca mulatta LEMD2 VGNC VGNC:74097
Rattus norvegicus LEMD2 RGD RGD:1305341
Bos taurus LEMD2 VGNC VGNC:30836
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