EMD emerin [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMDprovided by HGNC
Official Full Name: emerinprovided by HGNC
Primary source: HGNC:HGNC:3331
See related: Ensembl:ENSG00000102119 MIM:300384; AllianceGenome:HGNC:3331
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: STA; EDMD; LEMD5
Summary: Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 27.0), ovary (RPKM 26.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154379295..154381523)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152610118..152618066)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153607655..153609883)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Acute downregulation of emerin alters actomyosin cytoskeleton connectivity and function.
Title: Acute downregulation of emerin alters actomyosin cytoskeleton connectivity and function.
Emerin prevents BAF-mediated aggregation of lamin A on chromosomes in telophase to allow nuclear membrane expansion and nuclear lamina formation.
Title: Emerin prevents BAF-mediated aggregation of lamin A on chromosomes in telophase to allow nuclear membrane expansion and nuclear lamina formation.
ISGylation of EMD promotes its interaction with PDHA to inhibit aerobic oxidation in lung adenocarcinoma.
Title: ISGylation of EMD promotes its interaction with PDHA to inhibit aerobic oxidation in lung adenocarcinoma.
Emerin knockdown induces the migration and invasion of hepatocellular carcinoma cells by up-regulating the cytoplasmic p21.
Title: Emerin knockdown induces the migration and invasion of hepatocellular carcinoma cells by up-regulating the cytoplasmic p21.
Defects in Emerin-Nucleoskeleton Binding Disrupt Nuclear Structure and Promote Breast Cancer Cell Motility and Metastasis.
Title: Defects in Emerin-Nucleoskeleton Binding Disrupt Nuclear Structure and Promote Breast Cancer Cell Motility and Metastasis.
Immunohistochemical Expression of Emerin in Renal Cell Carcinomas: Does It Contribute to Histopathological Features and WHO/ISUP Grading in Predicting Prognosis?
Title: Immunohistochemical Expression of Emerin in Renal Cell Carcinomas: Does It Contribute to Histopathological Features and WHO/ISUP Grading in Predicting Prognosis?
Emerin Phosphorylation during the Early Phase of the Oxidative Stress Response Influences Emerin-BAF Interaction and BAF Nuclear Localization.
Title: Emerin Phosphorylation during the Early Phase of the Oxidative Stress Response Influences Emerin-BAF Interaction and BAF Nuclear Localization.
The Molecular Basis and Biologic Significance of the beta-Dystroglycan-Emerin Interaction.
Title: The Molecular Basis and Biologic Significance of the β-Dystroglycan-Emerin Interaction.
Taken together, these studies underscore a remarkable interplay between Lamin A/C and Emerin in modulating cytoskeletal organization of actin and NM1 that impinges on chromatin dynamics and function in the interphase nucleus.
Title: Lamin A/C and Emerin depletion impacts chromatin organization and dynamics in the interphase nucleus.
EmeryDreifuss muscular dystrophy type 1 phenotype may be strengthened by the toxicity of truncated emerin expressed in patients with certain nonsense mutations in EMD.
Title: Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients.

Submit: New GeneRIF Correction See all GeneRIFs (73)

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
Emery-Dreifuss muscular dystrophy 1, X-linked MedGen: C5243475 OMIM: 310300 GeneReviews: Emery-Dreifuss Muscular Dystrophy	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with EMD	PubMed
Tat	tat	Interaction of HIV-1 Tat with emerin in T-cells is identified by a proteomic strategy based on affinity chromatography	PubMed
integrase	gag-pol	Barrier-to-autointegration factor (BAF) is required for the association of viral cDNA with emerin and for chromatin engagement by viral cDNA before integration, indicating potential interactions between BAF, emerin and HIV-1 integrase	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD09020 (e-PCR)
- UniSTS:290066

GDB:434880 (e-PCR)
- UniSTS:157213

ECD08009 (e-PCR)
- UniSTS:289057

ECD17287 (e-PCR)
- UniSTS:298300

WI-18472 (e-PCR)
- UniSTS:3194

ECD07850 (e-PCR)
- UniSTS:288900

G54831 (e-PCR)
- UniSTS:117914

ECD17398 (e-PCR)
- UniSTS:298411

REN89376 (e-PCR)
- UniSTS:414174

REN89377 (e-PCR)
- UniSTS:414175

REN89378 (e-PCR)
- UniSTS:414176

REN89379 (e-PCR)
- UniSTS:414177

REN89380 (e-PCR)
- UniSTS:414178

REN89381 (e-PCR)
- UniSTS:414179

REN89382 (e-PCR)
- UniSTS:414180

REN89383 (e-PCR)
- UniSTS:414181

REN89384 (e-PCR)
- UniSTS:414182

REN89385 (e-PCR)
- UniSTS:414183

REN89386 (e-PCR)
- UniSTS:414184

REN89387 (e-PCR)
- UniSTS:414185

REN89388 (e-PCR)
- UniSTS:414186

REN89389 (e-PCR)
- UniSTS:414187

REN89390 (e-PCR)
- UniSTS:414188

REN89391 (e-PCR)
- UniSTS:414189

REN89392 (e-PCR)
- UniSTS:414190

REN89393 (e-PCR)
- UniSTS:414191

REN89394 (e-PCR)
- UniSTS:414192

REN89395 (e-PCR)
- UniSTS:414193

NoName (e-PCR)
- UniSTS:99059

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in TMEM240-body	IEA Inferred from Electronic Annotation more info
colocalizes_with cortical endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nuclear envelope	IMP Inferred from Mutant Phenotype 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	NAS Non-traceable Author Statement more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with spindle pole centrosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: emerin

Names: LEM domain containing 5

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.