This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017] See more...

Aliases for LEMD2 Gene

Aliases for LEMD2 Gene

  • LEM Domain Nuclear Envelope Protein 2 2 3
  • LEM Domain Containing 2 2 3 5
  • Lamina-Associated Polypeptide-Emerin-MAN1 Domain Containing 2 2 3
  • LEM Domain-Containing Protein 2 3 4
  • HLEM2 3 4
  • DJ482C21.1 3
  • CTRCT42 3
  • NET25 3
  • LEM2 3

External Ids for LEMD2 Gene

Previous GeneCards Identifiers for LEMD2 Gene

  • GC06M033740
  • GC06M033785
  • GC06M033846
  • GC06M033480
  • GC06M033738

Summaries for LEMD2 Gene

Entrez Gene Summary for LEMD2 Gene

  • This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]

GeneCards Summary for LEMD2 Gene

LEMD2 (LEM Domain Nuclear Envelope Protein 2) is a Protein Coding gene. Diseases associated with LEMD2 include Cataract 46, Juvenile-Onset and Cataract Hutterite Type. Among its related pathways are Nuclear Envelope Reassembly and Cell Cycle, Mitotic. An important paralog of this gene is LEMD3.

UniProtKB/Swiss-Prot Summary for LEMD2 Gene

  • Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643).
  • 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).

Additional gene information for LEMD2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LEMD2 Gene

Genomics for LEMD2 Gene

GeneHancer (GH) Regulatory Elements for LEMD2 Gene

Promoters and enhancers for LEMD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LEMD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LEMD2

Top Transcription factor binding sites by QIAGEN in the LEMD2 gene promoter:
  • aMEF-2
  • E2F
  • E2F-1
  • E47
  • MEF-2A
  • Tal-1

Genomic Locations for LEMD2 Gene

Genomic Locations for LEMD2 Gene
chr6:33,771,202-33,789,163
(GRCh38/hg38)
Size:
17,962 bases
Orientation:
Minus strand
chr6:33,738,979-33,756,913
(GRCh37/hg19)
Size:
17,935 bases
Orientation:
Minus strand

Genomic View for LEMD2 Gene

Genes around LEMD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEMD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEMD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEMD2 Gene

Proteins for LEMD2 Gene

  • Protein details for LEMD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NC56-LEMD2_HUMAN
    Recommended name:
    LEM domain-containing protein 2
    Protein Accession:
    Q8NC56
    Secondary Accessions:
    • B4DVH5
    • E7EVT2
    • Q5T972
    • Q5T974

    Protein attributes for LEMD2 Gene

    Size:
    503 amino acids
    Molecular mass:
    56975 Da
    Quaternary structure:
    • Binds to the lamin tail, in vitro.

    Alternative splice isoforms for LEMD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LEMD2 Gene

Post-translational modifications for LEMD2 Gene

  • Ubiquitination at Lys494
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LEMD2 Gene

Domains & Families for LEMD2 Gene

Gene Families for LEMD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LEMD2 Gene

Blocks:
  • LEM-like fold
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LEMD2 Gene

GenScript: Design optimal peptide antigens:
  • LEM domain-containing protein 2 (LEMD2_HUMAN)
genes like me logo Genes that share domains with LEMD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LEMD2 Gene

Function for LEMD2 Gene

Molecular function for LEMD2 Gene

UniProtKB/Swiss-Prot Function:
Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643).
UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for LEMD2 Gene

Gene Ontology (GO) - Molecular Function for LEMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28242692
genes like me logo Genes that share ontologies with LEMD2: view
genes like me logo Genes that share phenotypes with LEMD2: view

Human Phenotype Ontology for LEMD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for LEMD2

CRISPR Products

Clone Products

  • Addgene plasmids for LEMD2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LEMD2 Gene

Localization for LEMD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEMD2 Gene

Nucleus inner membrane; Multi-pass membrane protein. Note=Lamina-associated protein residing in the inner nuclear membrane (INM). Localized exclusively to the nuclear envelope, giving rise to a typical rim-like staining of the nuclear periphery.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LEMD2 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LEMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 28242692
GO:0005634 nucleus IEA --
GO:0005635 colocalizes_with nuclear envelope IDA 28242692
GO:0005637 nuclear inner membrane TAS 28242692
GO:0005639 integral component of nuclear inner membrane IDA 16339967
genes like me logo Genes that share ontologies with LEMD2: view

Pathways & Interactions for LEMD2 Gene

genes like me logo Genes that share pathways with LEMD2: view

Gene Ontology (GO) - Biological Process for LEMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006998 nuclear envelope organization IMP 17097643
GO:0022008 neurogenesis IEA --
GO:0030514 negative regulation of BMP signaling pathway IBA 21873635
GO:0035914 skeletal muscle cell differentiation IGI 19720741
GO:0043409 negative regulation of MAPK cascade IEA --
genes like me logo Genes that share ontologies with LEMD2: view

No data available for SIGNOR curated interactions for LEMD2 Gene

Drugs & Compounds for LEMD2 Gene

No Compound Related Data Available

Transcripts for LEMD2 Gene

mRNA/cDNA for LEMD2 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for LEMD2

Alternative Splicing Database (ASD) splice patterns (SP) for LEMD2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4:
SP5: - - - - - - -
SP6: - - -
SP7: - -

Relevant External Links for LEMD2 Gene

GeneLoc Exon Structure for
LEMD2

Expression for LEMD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LEMD2 Gene

Protein differential expression in normal tissues from HIPED for LEMD2 Gene

This gene is overexpressed in Nasal epithelium (38.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LEMD2 Gene



Protein tissue co-expression partners for LEMD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LEMD2

SOURCE GeneReport for Unigene cluster for LEMD2 Gene:

Hs.444845

mRNA Expression by UniProt/SwissProt for LEMD2 Gene:

Q8NC56-LEMD2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for LEMD2 Gene

  • Nervous system(4.6)
  • Spleen(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with LEMD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LEMD2 Gene

Orthologs for LEMD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LEMD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LEMD2 31 30
  • 99.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LEMD2 31 30
  • 89.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LEMD2 31 30
  • 89.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lemd2 30
  • 85.07 (n)
mouse
(Mus musculus)
Mammalia Lemd2 17 31 30
  • 83.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LEMD2 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LEMD2 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves LEMD2 31 30
  • 68.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LEMD2 31
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta MAN1 31
  • 13 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 15 (a)
OneToMany
CSA.4153 31
  • 6 (a)
OneToMany
Species where no ortholog for LEMD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LEMD2 Gene

ENSEMBL:
Gene Tree for LEMD2 (if available)
TreeFam:
Gene Tree for LEMD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LEMD2: view image

Paralogs for LEMD2 Gene

Paralogs for LEMD2 Gene

genes like me logo Genes that share paralogs with LEMD2: view

Variants for LEMD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LEMD2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
716351 Likely Benign: not provided 33,781,156(-) A/G INTRON_VARIANT
716352 Benign: not provided 33,788,655(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
776125 Likely Benign: not provided 33,789,040(-) G/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
791143 Benign: not provided 33,788,448(-) G/C SYNONYMOUS_VARIANT,INTRON_VARIANT
rs878852983 Pathogenic: Cataract Hutterite type. Cataract 46, juvenile-onset (CTRCT46) [MIM:212500] 33,789,079(-) A/Cp.Leu13Arg MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for LEMD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for LEMD2 Gene

Variant ID Type Subtype PubMed ID
dgv10610n54 CNV loss 21841781
esv3608630 CNV gain 21293372
nsv509128 CNV insertion 20534489

Variation tolerance for LEMD2 Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.55; 64.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEMD2 Gene

Human Gene Mutation Database (HGMD)
LEMD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEMD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEMD2 Gene

Disorders for LEMD2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LEMD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LEMD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LEMD2_HUMAN
  • Cataract 46, juvenile-onset (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. {ECO:0000269 PubMed:26788539}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LEMD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LEMD2: view

No data available for Genatlas for LEMD2 Gene

Publications for LEMD2 Gene

  1. LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins. (PMID: 16339967) Brachner A … Gotzmann J (Journal of cell science 2005) 2 3 4 54
  2. Repair of nuclear ruptures requires barrier-to-autointegration factor. (PMID: 31147383) Halfmann CT … Roux KJ (The Journal of cell biology 2019) 2 3 54
  3. LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells. (PMID: 28242692) Gu M … Frost A (Proceedings of the National Academy of Sciences of the United States of America 2017) 2 3 54
  4. Nuclear envelope localization of LEMD2 is developmentally dynamic and lamin A/C dependent yet insufficient for heterochromatin tethering. (PMID: 28056360) Thanisch K … Solovei I (Differentiation; research in biological diversity 2017) 2 3 54
  5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41 54

Products for LEMD2 Gene