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

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; AllianceGenome:HGNC:21244
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; MARUPS; 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: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33771213..33789130, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33592393..33610310, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33738990..33756907, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of the LEMD2 p.L13R Mutation in Dilated Cardiomyopathy.
Title: The Role of the LEMD2 p.L13R Mutation in Dilated Cardiomyopathy.
Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy.
Title: Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy.
SATB2-LEMD2 interaction links nuclear shape plasticity to regulation of cognition-related genes.
Title: SATB2-LEMD2 interaction links nuclear shape plasticity to regulation of cognition-related genes.
Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.
Title: Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.
Comparative Interactome Analysis of Emerin, MAN1 and LEM2 Reveals a Unique Role for LEM2 in Nucleotide Excision Repair.
Title: Comparative Interactome Analysis of Emerin, MAN1 and LEM2 Reveals a Unique Role for LEM2 in Nucleotide Excision Repair.
LEM2 phase separation promotes ESCRT-mediated nuclear envelope reformation
Title: LEM2 phase separation promotes ESCRT-mediated nuclear envelope reformation.
LEMD2 is required for recruitment of the ESCRT-III membrane repair machinery to ruptures; however, neither LEMD2 nor ESCRT-III is required to repair ruptures. These results reveal a new role for BAF in the response to and repair of nuclear ruptures.
Title: Repair of nuclear ruptures requires barrier-to-autointegration factor.
a recurrent de novo mutation in LEMD2 causes a nuclear envelopathy whose prognosis in adolescence is relatively good in comparison to that of classical Hutchinson-Gilford progeria syndrome
Title: The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
We conclude that Lem2p/LEM2 is a conserved nuclear site-specific adaptor that recruits Cmp7p/CHMP7 and downstream ESCRT factors to the nuclear envelope.
Title: LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataract 46 juvenile-onset MedGen: C0220721 OMIM: 212500 GeneReviews: Not available	Compare labs
Marbach-Rustad progeroid syndrome MedGen: C5543388 OMIM: 619322 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46686 (e-PCR)
- UniSTS:77257

WI-14169 (e-PCR)
- UniSTS:77258

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in heart formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in nuclear envelope organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
colocalizes_with nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear inner membrane	TAS Traceable Author Statement more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
is_active_in nuclear periphery	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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

NG_053042.1 RefSeqGene

Range

10145..28062

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001143944.1 → NP_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:56 → 191

MSC; Man1-Src1p-C-terminal domain
NM_001348709.2 → NP_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:56 → 191

MSC; Man1-Src1p-C-terminal domain
NM_001348710.2 → NP_001335639.1 LEM domain-containing protein 2 isoform 3

Status: REVIEWED

Source sequence(s)

AL158049

UniProtKB/TrEMBL

A0A220T1R7

Conserved Domains (2) summary

cd12941
Location:4 → 41

LEM_LEMD2; LEM (Lap2/Emerin/Man1) domain found in LEM domain-containing protein 2 (LEM2)

pfam09402
Location:145 → 360

MSC; Man1-Src1p-C-terminal domain
NM_181336.4 → NP_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

B4DVH5, E7EVT2, Q5T972, Q5T974, Q8NC56

Related

ENSP00000293760.5, ENST00000293760.10

Conserved Domains (2) summary

pfam09402
Location:278 → 493

MSC; Man1-Src1p-C-terminal domain

cl02649
Location:4 → 41

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins