LEMD3 - LEM domain containing 3 Gene

Homo sapiens

Also known as MAN1

Gene ID: 23592 | Gene type: protein coding

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07589	LEMD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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