LEMD3 - LEM domain containing 3 Gene

Also Known as MAN1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23592

About LEMD3

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:65,169,583-65,248,355 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 11.8), bone marrow (RPKM 7.8) and 25 other tissues.

Summary

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

LEMD3 Products (2)

mRNA	Protein	Name
NM_001167614.2	NP_001161086.1	inner nuclear membrane protein Man1 isoform 2
NM_014319.5	NP_055134.2	inner nuclear membrane protein Man1 isoform 1

LEMD3 Protein Structure

LEM

MSC

0
200
400
600
800
911 a.a.

Protein Preferred Names	Protein Names
inner nuclear membrane protein Man1	LEM domain-containing protein 3

LEMD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LEMD3	Q9Y2U8	SMAD1	Homo sapiens	Q15797	Anti Tag CoIP	33961781
Intra	LEMD3	Q9Y2U8	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	LEMD3	Q9Y2U8	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Buschke-Ollendorff Syndrome	BOS Dermatoosteopoikilosis Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis Osteopathia Condensans Disseminata Dermatofibrosis Lenticularis Disseminata Disseminated Dermatofibrosis With Osteopoikilosis Dermatofibrosis, Disseminated, With Osteopoikilosis Osteopoikilosis With Or Without Melorheostosis Dermatofibrosis, Disseminated With Osteopoikilosis Dermatofibrosis Disseminata Lenticularis Isolated Osteopoikilosis Osteopoikilosis, Isolated
Melorheostosis With Osteopoikilosis	Msbd Syndrome Mixed Sclerosing Bone Dystrophy Dystrophy Osseous Sclerosing Mixed
Osteopoikilosis	Osteopathia Condensans Disseminata Spotted Bones Dermatofibrosis Lenticularis Disseminata
Arteriovenous Malformations Of The Brain	Cerebral Arteriovenous Malformation Intracranial Arteriovenous Malformation Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To Intracranial Arteriovenous Malformations Bavm Cerebral Arteriovenous Malformations Intracranial Hemorrhage In Brain Cerebrovascular Malformations Arteriovenous Malformation Of The Brain, Somatic Intracranial Avm Arteriovenous Malformations Cerebral
Melorheostosis	Candle Wax Disease Flowing Hyperostosis Hyperostosis, Monomelic Leri Syndrome Leri'S Disease Melorheostoses Melorheostosis Of Leri Melorheostosis, Isolated Periostitis Monomelic Rheostosis
12q14 Microdeletion Syndrome	Del(12)(Q14) Deletion 12q14 Monosomy 12q14 Osteopoikilosis-Short Stature-Intellectual Disability Syndrome
Elastoma	Nevus Elasticus Juvenile Elastoma Without Osteopoikilosis Weidman Juvenile Elastoma
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]
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Axial Osteomalacia	Atypical Osteomalacia Involving The Axial Skeleton
Congenital Muscular Dystrophy-Dystroglycanopathy A7	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A7 Mddga7 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Ispd-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A7
Greenberg Dysplasia	Hem Dysplasia Greenberg Skeletal Dysplasia Hem Skeletal Dysplasia GRBGD Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia Moth-Eaten Skeletal Dysplasia Chondrodystrophy, Hydropic And Prenatally Lethal Type Hydrops-Ectopic Calcification-Motheaten Syndrome Skeletal Dysplasia, Greenberg Type Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia Hem Hem/Greenberg Dysplasia Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
Vertebrobasilar Insufficiency	Vertebro-Basilar Insufficiency Vertebrobasilar Arterial Insufficiency Vertebrobasilar Artery Syndrome
Myositis Ossificans	Myisitis Ossificans Ossification - Muscle
Deafness, Autosomal Recessive 74	DFNB74 Autosomal Recessive Nonsyndromic Deafness 74 Autosomal Recessive Deafness 74 Deafness, Autosomal Recessive, 74 Deafness, Autosomal Recessive, Type 74
Fibrogenesis Imperfecta Ossium	Baker'S Disease
Ornithosis	Psittacosis Chlamydial Pneumonia Chlamydia Psittaci Infection Chlamydia Psittaci
Pelger-Huet Anomaly	PHA Pelger-Huët Anomaly Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities Pelger Huet Anomaly Pelger-Huet Nuclear Anomaly
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	EDMD2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emd2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Hauptmann-Thannhauser Muscular Dystrophy Cardiomyopathy, Dilated, With Quadriceps Myopathy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly Lgmd1b, Formerly Muscular Dystrophy, Proximal, Type 1b, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Lgmd1b Limb-Girdle Muscular Dystrophy 1b Muscular Dystrophy, Proximal, Type 1b Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Malouf Syndrome Najjar Syndrome Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Cardiogenital Syndrome Genital Anomaly With Cardiomyopathy Cardiomyopathy With Primary Testicular Failure Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism Cardiomyopathy, Dilated, With Premature Ovarian Failure Cardiomyopathy Eith Primary Testicular Failure Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism Dilated Cardiomyopathy With Premature Ovarian Failure CMDHH Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism Cardiomyopathy Dilated With Premature Ovarian Failure
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
Periosteal Osteogenic Sarcoma	Periosteal Osteosarcoma Parosteal Osteosarcoma
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07589	LEMD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22607	Lemd3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29122	Lemd3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LEMD3	VGNC	VGNC:74145
Canis familiaris	LEMD3	VGNC	VGNC:42633
Rattus norvegicus	LEMD3	RGD	RGD:1596822
Mus musculus	LEMD3	MGD	MGI:3580376
Bos taurus	LEMD3	VGNC	VGNC:30837
Felis catus	LEMD3	VGNC	VGNC:63211
Others	LEMD3	NCBI