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
366569662023The Role of the LEMD2 p.L13R Mutation in Dilated Cardiomyopathy.0
366569662023The Role of the LEMD2 p.L13R Mutation in Dilated Cardiomyopathy.0
363776602022Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy.5
363776602022Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy.5
333199202021SATB2-LEMD2 interaction links nuclear shape plasticity to regulation of cognition-related genes.12
333199202021SATB2-LEMD2 interaction links nuclear shape plasticity to regulation of cognition-related genes.12
320855952020Comparative Interactome Analysis of Emerin, MAN1 and LEM2 Reveals a Unique Role for LEM2 in Nucleotide Excision Repair.12
322718602020Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.35
324940702020LEM2 phase separation promotes ESCRT-mediated nuclear envelope reformation.71
320855952020Comparative Interactome Analysis of Emerin, MAN1 and LEM2 Reveals a Unique Role for LEM2 in Nucleotide Excision Repair.12
322718602020Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.35
324940702020LEM2 phase separation promotes ESCRT-mediated nuclear envelope reformation.71
309053982019The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.21
311473832019Repair of nuclear ruptures requires barrier-to-autointegration factor.75
309053982019The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.21

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-(lem-domain-nuclear-envelope-protein-2)