LEMD2
entrez
221496
canonical
uniprot
Q8NC56
canonical
ensembl
ENSG00000161904
resolver
ensp
ENSP00000293760
resolver
ensp
ENSP00000421704
resolver
ensp
ENSP00000649189
resolver
ensp
ENSP00000786968
resolver
ensp
ENSP00000786970
resolver
genesymbol
LEMD2
resolver
hgnc
HGNC:21244
resolver
uniprot
B4DVH5
resolver
uniprot
E7EVT2
resolver
uniprot
Q5T972
resolver
uniprot
Q5T974
resolver
uniprot_entry
LEMD2_HUMAN
resolver
uniprot_sec
B4DVH5
resolver
uniprot_sec
E7EVT2
resolver
uniprot_sec
Q5T972
resolver
uniprot_sec
Q5T974
resolver
amino_acid_sequence
MAGLSDLELRRELQALGFQPGPITDTTRDVYRNKLRRLRGEARLRDEERLREEARPRGEERLREEARLREDAPLRARPAAASPRAEPWLSQPASGSAYATPGAYGDIRPSAASWVGSRGLAYPARPAQLRRRASVRGSSEEDEDARTPDRATQGPGLAARRWWAASPAPARLPSSLLGPDPRPGLRATRAGPAGAARARPEVGRRLERWLSRLLLWASLGLLLVFLGILWVKMGKPSAPQEAEDNMKLLPVDCERKTDEFCQAKQKAALLELLHELYNFLAIQAGNFECGNPENLKSKCIPVMEAQEYIANVTSSSSAKFEAALTWILSSNKDVGIWLKGEDQSELVTTVDKVVCLESAHPRMGVGCRLSRALLTAVTNVLIFFWCLAFLWGLLILLKYRWRKLEEEEQAMYEMVKKIIDVVQDHYVDWEQDMERYPYVGILHVRDSLIPPQSRRRMKRVWDRAVEFLASNESRIQTESHRVAGEDMLVWRWTKPSSFSDSER
uniprot
proteins
disease_involvement
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.; DISEASE: 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.
uniprot
proteins
function
FUNCTION: Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE 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 NE reformation (PubMed:28242692, PubMed:32494070). Promotes ESCRT-mediated NE 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). Plays a role in the organization of heterochromatin associated with the NE and in the maintenance of NE organization under mechanical stress (By similarity). 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). Essential for cardiac homeostasis and proper heart function (By similarity). {ECO:0000250|UniProtKB:Q6DVA0, ECO:0000269|PubMed:16339967, ECO:0000269|PubMed:17097643, ECO:0000269|PubMed:28242692, ECO:0000269|PubMed:32494070}.
uniprot
proteins
mass_dalton
56975
uniprot
proteins
mutagenesis
MUTAGEN 21..24; /note="GPIT->AAAA: Disrupts LEMD2 accumulation within the nuclear envelope (NE) and subsequent NE core enrichment in anaphase cells."; /evidence="ECO:0000269|PubMed:32494070"; MUTAGEN 43..202; /note="Missing: Compromises nuclear envelope enrichment."; /evidence="ECO:0000269|PubMed:32494070"; MUTAGEN 145..213; /note="Missing: Failure to enrich at microtubule-containing nuclear envelope core during anaphase."; /evidence="ECO:0000269|PubMed:32494070"; MUTAGEN 415..485; /note="Missing: Does not affect nuclear envelope enrichment."; /evidence="ECO:0000269|PubMed:32494070
uniprot
proteins
post_translational_modification
PTM: Phosphorylated; strongly phosphorylated in mitosis compared to G1/S. {ECO:0000269|PubMed:32494070}.
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16339967
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17097643
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26788539
uniprot
proteins
pubmed
28242692
uniprot
proteins
pubmed
30905398
uniprot
proteins
pubmed
32494070
uniprot
proteins
sequence_length
503
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins
transmembrane_region
TRANSMEM 213..233; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 377..397; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins