LEMD3 (LEM domain containing 3)

2010-11-01  

Identity

HGNC
LEMD3
LOCATION
12q14.3
LOCUSID
23592
ALIAS
MAN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23592
MIM: 607844
HGNC: 28887
Ensembl: ENSG00000174106

Variants:

dbSNP: 23592
ClinVar: 23592
TCGA: ENSG00000174106
COSMIC: LEMD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174106ENST00000308330Q9Y2U8
ENSG00000174106ENST00000308330A0A024RBB9

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Clearance of Nuclear Envelope Membranes from ChromatinREACTOMER-HSA-2993913
Depolymerisation of the Nuclear LaminaREACTOMER-HSA-4419969
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Nuclear Envelope ReassemblyREACTOMER-HSA-2995410
Initiation of Nuclear Envelope ReformationREACTOMER-HSA-2995383

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
311297072019Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.4
311297072019Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.4
294658132018Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.0
301081742018LEM domain-containing protein 3 antagonizes TGFβ-SMAD2/3 signaling in a stiffness-dependent manner in both the nucleus and cytosol.12
303214012018Structural basis for receptor-regulated SMAD recognition by MAN1.9
294658132018Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.0
301081742018LEM domain-containing protein 3 antagonizes TGFβ-SMAD2/3 signaling in a stiffness-dependent manner in both the nucleus and cytosol.12
303214012018Structural basis for receptor-regulated SMAD recognition by MAN1.9
284492392017The Role of the Nuclear Envelope Protein MAN1 in Mesenchymal Stem Cell Differentiation.1
284492392017The Role of the Nuclear Envelope Protein MAN1 in Mesenchymal Stem Cell Differentiation.1
266947062016Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.4
267119372016RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.2
266947062016Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.4
267119372016RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.2
261352022015Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.5

Citation

Dessen P

LEMD3 (LEM domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/51755/favicon/css/lib/case-report-explorer/