LEMD2 (LEM domain nuclear envelope protein 2)

2014-08-01  

Identity

HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
CTRCT42,LEM2,MARUPS,NET25,dJ482C21.1
FUSION GENES

Other Information

Locus ID:

NCBI: 221496
MIM: 616312
HGNC: 21244
Ensembl: ENSG00000161904

Variants:

dbSNP: 221496
ClinVar: 221496
TCGA: ENSG00000161904
COSMIC: LEMD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161904ENST00000293760Q8NC56
ENSG00000161904ENST00000293760A0A024RCZ1
ENSG00000161904ENST00000421671D6RBV0
ENSG00000161904ENST00000442696H7C2Z0
ENSG00000161904ENST00000504692H0Y8H8
ENSG00000161904ENST00000506578H0Y9B7
ENSG00000161904ENST00000508327Q8NC56
ENSG00000161904ENST00000513701D6R958
ENSG00000161904ENST00000614475Q8NC56
ENSG00000161904ENST00000614475A0A024RCZ1

Expression (GTEx)

0
10
20
30
40
50
60
70
80

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
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
282426922017LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells.30
311473832019Repair of nuclear ruptures requires barrier-to-autointegration factor.11
309053982019The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.6

Citation

Dessen P

LEMD2 (LEM domain nuclear envelope protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54422/lemd2