Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2010
Gene name	Emerin
Gene symbol	EMD
Synonyms (NCBI Gene)	EDMDLEMD5STA
Chromosome	X
Chromosome location	Xq28
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 f

Show/Hide all (54)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894805	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894806	C>A	Pathogenic	Coding sequence variant, missense variant
rs132630262	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs137977232	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs139983160	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147920229	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs148515772	G>A	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs150757295	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs151074632	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs267606782	A>G	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs368661339	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs376456050	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123155	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398123156	ATGAAGAGAGCTACT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs398123157	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs398123158	A>G	Uncertain-significance, pathogenic	Splice acceptor variant
rs727503036	A>G	Pathogenic	Synonymous variant, splice acceptor variant, coding sequence variant
rs727504901	A>G	Likely-pathogenic	Splice acceptor variant
rs730880352	->TGGGC	Pathogenic	Frameshift variant, coding sequence variant
rs782011714	C>A,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, coding sequence variant, stop gained
rs782057378	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs782061626	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs782222974	G>A,T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs782299893	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782367505	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782452523	TCTAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs794729010	G>T	Pathogenic	Splice donor variant
rs876661345	->C	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886041854	C>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886044771	G>A	Pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant
rs886044901	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057524848	T>A	Pathogenic	Coding sequence variant, stop gained
rs1060502612	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1064797380	G>A	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1557182198	CTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGC>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, splice donor variant
rs1557182214	G>T	Pathogenic	Splice donor variant
rs1557182286	TACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1557182301	->G	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1557182317	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1557182364	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs1557182560	G>T	Pathogenic	Stop gained, coding sequence variant
rs1557182611	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557182654	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557182661	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1557182670	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557182676	->GGGGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557182692	TCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557182708	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569552076	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569552079	->A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1569552080	TCGAGTACGAGACCCAGAGGCGGCGGCT>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569552102	CCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569552106	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603365762	T>A	Likely-pathogenic	Coding sequence variant, splice donor variant, missense variant

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022307	hsa-miR-124-3p	Microarray	18668037
MIRT023624	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT050333	hsa-miR-25-3p	CLASH	23622248
MIRT049830	hsa-miR-92a-3p	CLASH	23622248
MIRT046034	hsa-miR-125b-5p	CLASH	23622248
MIRT041790	hsa-miR-484	CLASH	23622248
MIRT040236	hsa-miR-615-3p	CLASH	23622248

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IDA	15328537
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11313760, 11587540, 12163176, 14597414, 15009215, 15328537, 15671068, 16169070, 16189514, 16858403, 17462627, 19323649, 19933576, 21346760, 21391237, 21610090, 22399800, 25416956, 25502805, 25910212, 27107012, 29568061, 30488537, 30833792, 31515488, 32296183, 32814053, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	16858403, 27534416
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	IMP	21610090
GO:0005635	Component	Nuclear envelope	TAS	8589715
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IDA	19167377
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	NAS	16858403
GO:0005640	Component	Nuclear outer membrane	IDA	17785515
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005654	Component	Nucleoplasm	IDA	27534416
GO:0005737	Component	Cytoplasm	IDA	27534416
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005819	Component	Spindle	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IEA
GO:0006936	Process	Muscle contraction	TAS	7894480
GO:0007517	Process	Muscle organ development	TAS	7894480, 8589715
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0031616	Component	Spindle pole centrosome	IDA	19494128
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032541	Component	Cortical endoplasmic reticulum	IDA	19494128
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046827	Process	Positive regulation of protein export from nucleus	IMP	16858403
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	16858403
GO:0048487	Function	Beta-tubulin binding	IBA
GO:0048487	Function	Beta-tubulin binding	IDA	17785515
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IMP	16858403
GO:0071363	Process	Cellular response to growth factor stimulus	IMP	16858403
GO:0071763	Process	Nuclear membrane organization	IMP	32923640
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	16858403
GO:0160045	Component	TMEM240-body	IEA
GO:1990000	Process	Amyloid fibril formation	EXP	26415001

MIM	HGNC	e!Ensembl
300384	3331	ENSG00000102119

P50402

Protein name

Emerin

Protein function

Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in

PDB

1JEI , 2ODC , 2ODG , 6GHD , 6RPR , 7NDY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03020	LEM	3 → 42	LEM domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Skeletal muscle, heart, colon, testis, ovary and pancreas.

Sequence

MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYS
FSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQS
VTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLS
YYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF

Sequence length

254

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy		Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Depolymerisation of the Nuclear Lamina Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

779

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Pathogenic	rs2522788283, rs876661345, rs132630262	RCV002432875 RCV000246169 RCV002381248
Charcot-Marie-Tooth disease type 2	Likely pathogenic	rs1557182214	RCV002221161
EMD-related disorder	Pathogenic	rs782452523	RCV003401269
Emery-Dreifuss muscular dystrophy	Pathogenic; Likely pathogenic	rs727503036, rs1557182301	RCV001280616 RCV001553580
Emery-Dreifuss muscular dystrophy 1, X-linked	Likely pathogenic; Pathogenic	rs730880352, rs2522790689, rs886041854, rs782452523, rs1557182431, rs2522789929, rs2522790651, rs886044901, rs2522790106, rs2522789891, rs1569552080, rs398123158	RCV005632269 RCV003492783 RCV003492025 RCV003492030 RCV003340827 RCV003389291 RCV004006218 RCV004547315 RCV004576374 RCV004594948 RCV003387916 RCV003492432
Failure to thrive	Pathogenic	rs1557182317	RCV000626613
Flexion contracture	Pathogenic	rs1557182317	RCV000626613
Myopathy	Pathogenic	rs1557182317	RCV000626613
Neuromuscular disease	Pathogenic; Likely pathogenic	rs727503036, rs730880352, rs727504901	RCV000150647 RCV000155918 RCV000156286
Nonpapillary renal cell carcinoma	Pathogenic	rs2148128554	RCV005924367
Primary familial dilated cardiomyopathy	Likely pathogenic	rs1603365762	RCV000845433
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2522789017, rs1557182560	RCV005930338 RCV005901401
X-linked Emery-Dreifuss muscular dystrophy	Pathogenic; Likely pathogenic	rs2148128756, rs2148128957, rs2148127941, rs2148128122, rs876661345, rs2148128811, rs2148128871, rs2148128961, rs730880352, rs2148128139, rs794729010, rs2148128715, rs2148128862, rs2148128554, rs2148128459 View all (49 more)	RCV001376154 RCV001376153 RCV001388435 RCV001388436 RCV001388437 RCV001384139 RCV001385621 RCV001387613 RCV001389493 RCV001542506 RCV001802514 RCV001808004 RCV002007226 RCV001994790 RCV001877850 RCV001972522 RCV005089732 RCV001850141 RCV003050681 RCV001037353 RCV002815994 RCV002899074 RCV002961933 RCV003053797 RCV003066123 RCV000697180 RCV000011921 RCV000802953 RCV000011924 RCV000011926 RCV000011927 RCV001224353 RCV000011929 RCV000526347 RCV001068392 RCV001216679 RCV002518125 RCV003523160 RCV003524202 RCV003522201 RCV003523391 RCV003524846 RCV003639870 RCV003639883 RCV003640017 RCV003640346 RCV000458523 RCV005091070 RCV000793350 RCV000697863 RCV001388629 RCV000498518 RCV000497910 RCV000557820 RCV000543940 RCV000690680 RCV000638215 RCV000638214 RCV000638224 RCV000706552 RCV005092061 RCV000754753 RCV000755015 RCV000991009 RCV001065164 RCV001041051 RCV001063271 RCV001212666 RCV001251168 RCV000816244
X-linked myopathy with postural muscle atrophy	Pathogenic	rs2522787001	RCV003885427

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cardiomyopathy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs2148128160, rs2067879183, rs782178894, rs139983160, rs2070818, rs782011714, rs398123157, rs1557182639, rs200537612, rs137977232, rs145985318, rs143447675, rs781840855, rs1569552110, rs781847968	RCV001799393 RCV001799394 RCV003150568 RCV000770590 RCV000853050 RCV003150155 RCV001798859 RCV000770592 RCV000770586 RCV000770588 RCV000770589 RCV000770591 RCV000770587 RCV000770593 RCV000852583
Cervical cancer	Benign; Likely benign	rs182540760	RCV005890767
Hypertrophic cardiomyopathy	Uncertain significance	rs2522790487	RCV003447916
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs182540760	RCV005890768
Primary dilated cardiomyopathy	Uncertain significance	rs869025400	RCV000208426
Primary familial hypertrophic cardiomyopathy	Uncertain significance	rs869025401	RCV000208067
See cases	Likely benign	rs1557182733	RCV002252867

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	30542735, 36071546
Adenomatous Polyposis Coli	Associate	16858403
Aneuploidy	Associate	19581290
Arrhythmias Cardiac	Associate	36106556
Atrial Fibrillation	Associate	18266676
Atrial Remodeling	Associate	31185657
Breast Neoplasms	Associate	39198511
Cardiomyopathies	Associate	24997722, 30506906
Cardiomyopathy Dilated	Associate	30506906
Cardiovascular Abnormalities	Associate	11063761
Genetic Diseases Inborn	Associate	12493765
Heart Defects Congenital	Associate	16858403, 30506906
Heart Diseases	Associate	11063761, 36106556
Laminopathies	Associate	30871242
Mitochondrial Diseases	Associate	36106556
Muscle Weakness	Associate	24997722, 36106556
Muscular Atrophy	Associate	15009215, 34206382
Muscular Diseases	Associate	30506906
Muscular Dystrophies	Associate	26415001, 27960036, 34206382
Muscular Dystrophy Emery Dreifuss	Associate	10092874, 11063761, 11077661, 11435115, 11470279, 12493765, 12755701, 15009215, 15328537, 15681850, 15832002, 16972941, 23671687, 24997722, 25454731 View all (11 more)
Muscular Dystrophy Emery Dreifuss	Inhibit	18266676, 25030574, 40004006
Neoplasm Metastasis	Associate	32455867
Neoplasms	Associate	25116851, 30542735, 39198511, 39218980
Neoplasms Glandular and Epithelial	Associate	25116851
Ovarian Neoplasms	Associate	19581290
Progeria	Associate	19727227
Progeroid syndrome neonatal	Associate	21549337, 30137533
Progressive hearing loss stapes fixation	Associate	11077661
Prostatic Neoplasms	Associate	39218980
Sick Sinus Syndrome	Associate	18266676
Sinoatrial Block	Associate	11063761
Thyroid Cancer Papillary	Associate	25116851
X Linked Emery Dreifuss Muscular Dystrophy	Associate	24839233, 30871242, 34419748, 36106556, 40004006

EMD (emerin)