LEMD3 (LEM domain containing 3)

2010-11-01  

Identity

HGNC
LOCATION
12q14.3
LOCUSID
ALIAS
MAN1
FUSION GENES

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

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

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/css/lib/teaching-explorer/humanGenome