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Protein

LEM domain-containing protein 2

Gene

LEMD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643).2 Publications
Required for embryonic development and is involved in regulation of several signaling pathways such as MAPK and AKT. Required for myoblast differentiation involving regulation of ERK signaling (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

  • heart formation Source: Ensembl
  • meiotic attachment of telomere to nuclear envelope Source: GO_Central
  • negative regulation of BMP signaling pathway Source: GO_Central
  • negative regulation of MAPK cascade Source: Ensembl
  • negative regulation of protein kinase B signaling Source: Ensembl
  • neurogenesis Source: Ensembl
  • nuclear envelope organization Source: UniProtKB
  • protein localization to chromatin Source: ARUK-UCL
  • skeletal muscle cell differentiation Source: MGI

Enzyme and pathway databases

ReactomeiR-HSA-2993913. Clearance of Nuclear Envelope Membranes from Chromatin.
R-HSA-2995383. Initiation of Nuclear Envelope Reformation.
R-HSA-4419969. Depolymerisation of the Nuclear Lamina.

Names & Taxonomyi

Protein namesi
Recommended name:
LEM domain-containing protein 2
Short name:
hLEM2
Gene namesi
Name:LEMD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21244. LEMD2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21
Transmembranei377 – 397HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of nuclear inner membrane Source: MGI
  • membrane Source: UniProtKB
  • nuclear inner membrane Source: ARUK-UCL
  • nuclear membrane Source: HPA

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cataract 46, juvenile-onset (CTRCT46)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:212500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07699213L → R in CTRCT46. 1 PublicationCorresponds to variant dbSNP:rs878852983Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi221496.
MalaCardsiLEMD2.
MIMi212500. phenotype.
OpenTargetsiENSG00000161904.
PharmGKBiPA134952135.

Polymorphism and mutation databases

BioMutaiLEMD2.
DMDMi74751184.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002852492 – 503LEM domain-containing protein 2Add BLAST502

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei166PhosphoserineCombined sources1
Modified residuei175PhosphoserineCombined sources1
Modified residuei497PhosphoserineCombined sources1
Modified residuei499PhosphoserineCombined sources1
Modified residuei501PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8NC56.
MaxQBiQ8NC56.
PaxDbiQ8NC56.
PeptideAtlasiQ8NC56.
PRIDEiQ8NC56.

PTM databases

iPTMnetiQ8NC56.
PhosphoSitePlusiQ8NC56.
SwissPalmiQ8NC56.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000161904.
CleanExiHS_LEMD2.
ExpressionAtlasiQ8NC56. baseline and differential.
GenevisibleiQ8NC56. HS.

Organism-specific databases

HPAiHPA017340.

Interactioni

Subunit structurei

Binds to the lamin tail, in vitro.1 Publication

Protein-protein interaction databases

BioGridi128735. 43 interactors.
IntActiQ8NC56. 9 interactors.
MINTiMINT-4991274.
STRINGi9606.ENSP00000293760.

Structurei

3D structure databases

ProteinModelPortaliQ8NC56.
SMRiQ8NC56.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 42LEMPROSITE-ProRule annotationAdd BLAST41

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni74 – 103Interaction with lamin A/C complexesAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi314 – 317Poly-Ser4
Compositional biasi405 – 408Poly-Glu4

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0147. Eukaryota.
ENOG410XP20. LUCA.
GeneTreeiENSGT00530000063791.
HOGENOMiHOG000015214.
HOVERGENiHBG099961.
InParanoidiQ8NC56.
OMAiECGNPEN.
OrthoDBiEOG091G09QP.
PhylomeDBiQ8NC56.
TreeFamiTF315385.

Family and domain databases

Gene3Di1.10.720.40. 1 hit.
InterProiView protein in InterPro
IPR011015. LEM/LEM-like_dom.
IPR003887. LEM_dom.
IPR034994. LEMD2.
IPR018996. MSC.
PANTHERiPTHR13428:SF14. PTHR13428:SF14. 1 hit.
PfamiView protein in Pfam
PF03020. LEM. 1 hit.
PF09402. MSC. 1 hit.
SMARTiView protein in SMART
SM00540. LEM. 1 hit.
SUPFAMiSSF63451. SSF63451. 1 hit.
PROSITEiView protein in PROSITE
PS50954. LEM. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NC56-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGLSDLELR RELQALGFQP GPITDTTRDV YRNKLRRLRG EARLRDEERL
60 70 80 90 100
REEARPRGEE RLREEARLRE DAPLRARPAA ASPRAEPWLS QPASGSAYAT
110 120 130 140 150
PGAYGDIRPS AASWVGSRGL AYPARPAQLR RRASVRGSSE EDEDARTPDR
160 170 180 190 200
ATQGPGLAAR RWWAASPAPA RLPSSLLGPD PRPGLRATRA GPAGAARARP
210 220 230 240 250
EVGRRLERWL SRLLLWASLG LLLVFLGILW VKMGKPSAPQ EAEDNMKLLP
260 270 280 290 300
VDCERKTDEF CQAKQKAALL ELLHELYNFL AIQAGNFECG NPENLKSKCI
310 320 330 340 350
PVMEAQEYIA NVTSSSSAKF EAALTWILSS NKDVGIWLKG EDQSELVTTV
360 370 380 390 400
DKVVCLESAH PRMGVGCRLS RALLTAVTNV LIFFWCLAFL WGLLILLKYR
410 420 430 440 450
WRKLEEEEQA MYEMVKKIID VVQDHYVDWE QDMERYPYVG ILHVRDSLIP
460 470 480 490 500
PQSRRRMKRV WDRAVEFLAS NESRIQTESH RVAGEDMLVW RWTKPSSFSD

SER
Length:503
Mass (Da):56,975
Last modified:October 1, 2002 - v1
Checksum:i5C24BF18B0423952
GO
Isoform 2 (identifier: Q8NC56-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-302: Missing.

Note: No experimental confirmation available.
Show »
Length:201
Mass (Da):23,520
Checksum:iD5639C76C63E69FD
GO

Sequence cautioni

The sequence CAI21529 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti316S → F in BAG62687 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07699213L → R in CTRCT46. 1 PublicationCorresponds to variant dbSNP:rs878852983Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0448471 – 302Missing in isoform 2. 1 PublicationAdd BLAST302

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK301083 mRNA. Translation: BAG62687.1.
AK074959 mRNA. Translation: BAC11316.1.
AL158049 Genomic DNA. Translation: CAI21527.2.
AL158049 Genomic DNA. Translation: CAI21529.1. Sequence problems.
BC051803 mRNA. Translation: AAH51803.1.
CCDSiCCDS47411.1. [Q8NC56-2]
CCDS4785.1. [Q8NC56-1]
RefSeqiNP_001137416.1. NM_001143944.1. [Q8NC56-2]
NP_001335638.1. NM_001348709.1. [Q8NC56-2]
NP_851853.1. NM_181336.3. [Q8NC56-1]
UniGeneiHs.444845.

Genome annotation databases

EnsembliENST00000293760; ENSP00000293760; ENSG00000161904. [Q8NC56-1]
ENST00000508327; ENSP00000421704; ENSG00000161904. [Q8NC56-2]
ENST00000614475; ENSP00000478539; ENSG00000161904. [Q8NC56-1]
GeneIDi221496.
KEGGihsa:221496.
UCSCiuc011drl.3. human. [Q8NC56-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiLEMD2_HUMAN
AccessioniPrimary (citable) accession number: Q8NC56
Secondary accession number(s): B4DVH5
, E7EVT2, Q5T972, Q5T974
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: October 1, 2002
Last modified: August 30, 2017
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot