LEMD2 - LEM domain nuclear envelope protein 2 Gene

Also Known as LEM2; NET25; MARUPS; CTRCT42; dJ482C21.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 221496

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28242692	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nuclear envelope organization	IMP IMP: Inferred from mutant phenotype	17097643	GOA
involved in protein localization to chromatin	IMP IMP: Inferred from mutant phenotype	28242692	GOA
acts upstream of or within skeletal muscle cell differentiation	IGI IGI: Inferred from genetic interaction	19720741	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	28242692	GOA
colocalizes with endoplasmic reticulum	IDA IDA: Inferred from direct assay	28242692	GOA
colocalizes with nuclear envelope	IDA IDA: Inferred from direct assay	28242692	GOA
located in nuclear inner membrane	IDA IDA: Inferred from direct assay	16339967	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LEMD2 Protein Structure

LEM

MSC

0
100
200
300
400
503 a.a.

Protein Preferred Names	Protein Names
LEM domain-containing protein 2	LEM domain containing 2

LEMD2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810184	LEMD2 Antibody (YA9528)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07588	LEMD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	LEMD2	NCBI