ID  Q8NC56;
PN  LEM domain-containing protein 2;
GN  LEMD2;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0179;
SL  Nucleus Position: SL-0182;
SL  Comments: Nucleus inner membrane {ECO:0000269|PubMed:16339967, ECO:0000269|PubMed:17097643, ECO:0000269|PubMed:28242692, ECO:0000269|PubMed:30905398, ECO:0000269|PubMed:32494070}; Multi-pass membrane protein {ECO:0000269|PubMed:16339967}. Nucleus envelope {ECO:0000269|PubMed:28242692}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:32494070}. Note=Lamina-associated protein residing in the inner nuclear membrane (INM) of the nuclear envelope (NE) (PubMed:16339967). The localization to the INM is dependent on LMNA (PubMed:16339967). Evenly distributed around the NE during interphase (PubMed:16339967). During metaphase, found in a reticular network (PubMed:28242692). Recruited to the reforming NE on chromatin disks in early anaphase (PubMed:28242692). In late anaphase, concentrates at the NE core proximal to spindle microtubules, and then broadening to a distributed nuclear rim pattern (PubMed:28242692, PubMed:32494070). {ECO:0000269|PubMed:16339967, ECO:0000269|PubMed:28242692, ECO:0000269|PubMed:32494070}.
DR  UNIPROT: Q8NC56;
DR  UNIPROT: B4DVH5;
DR  UNIPROT: E7EVT2;
DR  UNIPROT: Q5T972;
DR  UNIPROT: Q5T974;
DR  Pfam: PF03020;
DR  Pfam: PF09402;
DR  PROSITE: PS50954;
DR  OMIM: 212500;
DR  OMIM: 616312;
DR  OMIM: 619322;
DR  DisGeNET: 221496;
DE  Function: Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope integrity and nuclear envelope reformation after mitosis (PubMed:16339967, PubMed:17097643, PubMed:28242692, PubMed:32494070). Plays a role as transmembrane adapter for the endosomal sorting complexes required for transport (ESCRT), and is thereby involved in ESCRT-mediated nuclear envelope reformation (PubMed:28242692, PubMed:32494070). Promotes ESCRT-mediated nuclear envelope closure by recruiting CHMP7 and downstream ESCRT-III proteins IST1/CHMP8 and CHMP2A to the reforming NE during anaphase (PubMed:28242692). During nuclear reassembly, condenses into a liquid-like coating around microtubule spindles and coassembles with CHMP7 to form a macromolecular O-ring seal at the confluence between membranes, chromatin, and the spindle to facilitate early nuclear sealing (PubMed:32494070). Required for embryonic development and involved in regulation of several signaling pathways such as MAPK and AKT (By similarity). Required for myoblast differentiation involving regulation of ERK signaling (By similarity). {ECO:0000250|UniProtKB:Q6DVA0, ECO:0000269|PubMed:16339967, ECO:0000269|PubMed:17097643, ECO:0000269|PubMed:28242692, ECO:0000269|PubMed:32494070}.
DE  Disease: Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy (CTRCT46) [MIM:212500]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death. {ECO:0000269|PubMed:26788539}. Note=The disease is caused by variants affecting the gene represented in this entry. Marbach-Rustad progeroid syndrome (MARUPS) [MIM:619322]: An autosomal dominant syndrome characterized by progeria-like appearance with little subcutaneous fat and triangular facies, growth retardation, short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. {ECO:0000269|PubMed:30905398}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P02545; IntAct: EBI-10901984; Score: 0.49
DE  Interaction: P90495; IntAct: EBI-6156892; Score: 0.35
DE  Interaction: O14862; IntAct: EBI-9995694; Score: 0.35
DE  Interaction: P27635; IntAct: EBI-11035646; Score: 0.35
DE  Interaction: O00567; IntAct: EBI-11069711; Score: 0.35
DE  Interaction: F8VQC7; IntAct: EBI-11104527; Score: 0.35
DE  Interaction: Q9R0Q3; IntAct: EBI-11111571; Score: 0.35
DE  Interaction: O60506; IntAct: EBI-11153302; Score: 0.35
DE  Interaction: Q99523; IntAct: EBI-11154667; Score: 0.35
DE  Interaction: P56945; IntAct: EBI-15100330; Score: 0.35
DE  Interaction: O00322; IntAct: EBI-21504674; Score: 0.35
DE  Interaction: P08473; IntAct: EBI-21505285; Score: 0.35
DE  Interaction: P22460; IntAct: EBI-21505491; Score: 0.35
DE  Interaction: P30825; IntAct: EBI-21505748; Score: 0.35
DE  Interaction: P32297; IntAct: EBI-21506200; Score: 0.35
DE  Interaction: P48960; IntAct: EBI-21506471; Score: 0.35
DE  Interaction: Q03721; IntAct: EBI-21513277; Score: 0.35
DE  Interaction: Q6P5W5; IntAct: EBI-21515976; Score: 0.35
DE  Interaction: Q9UGM1; IntAct: EBI-21517134; Score: 0.35
DE  Interaction: P80370; IntAct: EBI-21555448; Score: 0.35
DE  Interaction: Q8WTR4; IntAct: EBI-21566764; Score: 0.35
DE  Interaction: Q504Y0; IntAct: EBI-21572157; Score: 0.35
DE  Interaction: Q01814; IntAct: EBI-21599092; Score: 0.35
DE  Interaction: Q12797; IntAct: EBI-21649522; Score: 0.35
DE  Interaction: Q99871; IntAct: EBI-21670231; Score: 0.35
DE  Interaction: Q16322; IntAct: EBI-21690666; Score: 0.35
DE  Interaction: P04004; IntAct: EBI-21709311; Score: 0.35
DE  Interaction: Q4KMQ2; IntAct: EBI-21730510; Score: 0.35
DE  Interaction: P46098; IntAct: EBI-21749232; Score: 0.35
DE  Interaction: O43505; IntAct: EBI-21751424; Score: 0.35
DE  Interaction: Q9C0K1; IntAct: EBI-21813298; Score: 0.35
DE  Interaction: Q05901; IntAct: EBI-21881670; Score: 0.35
DE  Interaction: Q96HU1; IntAct: EBI-21896050; Score: 0.40
DE  Interaction: P14316; IntAct: EBI-21260627; Score: 0.35
DE  Interaction: Q9BWW4; IntAct: EBI-21265722; Score: 0.35
DE  Interaction: Q9NQB0; IntAct: EBI-21265942; Score: 0.35
DE  Interaction: Q8N5H7; IntAct: EBI-25387159; Score: 0.35
DE  Interaction: P35226; IntAct: EBI-27108918; Score: 0.35
DE  Interaction: Q8N488; IntAct: EBI-27111302; Score: 0.35
DE  Interaction: P23771; IntAct: EBI-34580747; Score: 0.35
GO  GO:0005737;
GO  GO:0016021;
GO  GO:0005639;
GO  GO:0016020;
GO  GO:0005635;
GO  GO:0005637;
GO  GO:0031965;
GO  GO:0005819;
GO  GO:0031490;
GO  GO:0060914;
GO  GO:0030514;
GO  GO:0043409;
GO  GO:0051898;
GO  GO:0022008;
GO  GO:0006998;
GO  GO:0071168;
GO  GO:0035914;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MAGLSDLELRRELQALGFQPGPITDTTRDVYRNKLRRLRGEARLRDEERLREEARPRGEERLREEARLREDAPLRARPAA
SQ  ASPRAEPWLSQPASGSAYATPGAYGDIRPSAASWVGSRGLAYPARPAQLRRRASVRGSSEEDEDARTPDRATQGPGLAAR
SQ  RWWAASPAPARLPSSLLGPDPRPGLRATRAGPAGAARARPEVGRRLERWLSRLLLWASLGLLLVFLGILWVKMGKPSAPQ
SQ  EAEDNMKLLPVDCERKTDEFCQAKQKAALLELLHELYNFLAIQAGNFECGNPENLKSKCIPVMEAQEYIANVTSSSSAKF
SQ  EAALTWILSSNKDVGIWLKGEDQSELVTTVDKVVCLESAHPRMGVGCRLSRALLTAVTNVLIFFWCLAFLWGLLILLKYR
SQ  WRKLEEEEQAMYEMVKKIIDVVQDHYVDWEQDMERYPYVGILHVRDSLIPPQSRRRMKRVWDRAVEFLASNESRIQTESH
SQ  RVAGEDMLVWRWTKPSSFSDSER
//