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LEMD2 LEM domain nuclear envelope protein 2 [ Homo sapiens (human) ]

Gene ID: 221496, updated on 16-May-2020

Summary

Official Symbol
LEMD2provided by HGNC
Official Full Name
LEM domain nuclear envelope protein 2provided by HGNC
Primary source
HGNC:HGNC:21244
See related
Ensembl:ENSG00000161904 MIM:616312
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LEM2; NET25; CTRCT42; dJ482C21.1
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 4.6), spleen (RPKM 4.4) and 25 other tissues See more
Orthologs

Genomic context

See LEMD2 in Genome Data Viewer
Location:
6p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (33771213..33794274, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33738990..33756906, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 3934 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 2 Neighboring gene inositol hexakisphosphate kinase 3 Neighboring gene uncharacterized LOC105375024 Neighboring gene motilin Neighboring gene uncharacterized LOC105375025

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cataract Hutterite type
MedGen: C0220721 OMIM: 212500 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration.
NHGRI GWA Catalog
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
heart formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
neurogenesis IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to chromatin IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with chromatin IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
colocalizes_with nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear inner membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
LEM domain-containing protein 2
Names
LEM domain containing 2
hLEM2
lamina-associated polypeptide-emerin-MAN1 domain containing 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053042.1 RefSeqGene

    Range
    10145..28062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143944.1NP_001137416.1  LEM domain-containing protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK024858, BC039864, BM978238, DC340017
    Consensus CDS
    CCDS47411.1
    UniProtKB/Swiss-Prot
    Q8NC56
    Related
    ENSP00000421704.1, ENST00000508327.5
    Conserved Domains (1) summary
    pfam09402
    Location:56191
    MSC; Man1-Src1p-C-terminal domain
  2. NM_001348709.2NP_001335638.1  LEM domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL158049
    Consensus CDS
    CCDS47411.1
    UniProtKB/Swiss-Prot
    Q8NC56
    Conserved Domains (1) summary
    pfam09402
    Location:56191
    MSC; Man1-Src1p-C-terminal domain
  3. NM_001348710.2NP_001335639.1  LEM domain-containing protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL158049
    Conserved Domains (2) summary
    cd12941
    Location:441
    LEM_LEMD2; LEM (Lap2/Emerin/Man1) domain found in LEM domain-containing protein 2 (LEM2)
    pfam09402
    Location:145360
    MSC; Man1-Src1p-C-terminal domain
  4. NM_181336.4NP_851853.1  LEM domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_851853.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK024858, AL158049, BC039864, BM978238
    Consensus CDS
    CCDS4785.1
    UniProtKB/Swiss-Prot
    Q8NC56
    UniProtKB/TrEMBL
    A0A024RCZ1
    Related
    ENSP00000293760.5, ENST00000293760.10
    Conserved Domains (2) summary
    pfam09402
    Location:278493
    MSC; Man1-Src1p-C-terminal domain
    cl02649
    Location:441
    LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    33771213..33794274 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010437.1XP_016865926.1  LEM domain-containing protein 2 isoform X1

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