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EMD Gene

protein-coding GIFtS: 61

GC0XP153607

emerin
(Previous name: Emery-Dreifuss muscular dystrophy )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
emerin¹ ²
STA¹ ² ³ ⁵
EDMD² ³ ⁵
LEMD5¹ ²
Emery-Dreifuss muscular dystrophy¹
LEM domain containing 5²

External Ids:	HGNC: 3331¹	Entrez Gene: 2010²	Ensembl: ENSG00000102119⁷	UniProtKB: P50402³

Search outside databases for aliases for EMD gene

Previous GC identifers: GC0XP147671 GC0XP149988 GC0XP151193 GC0XP152075 GC0XP153128 GC0XP153260

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EMD:

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)

UniProtKB/Swiss-Prot: EMD_HUMAN, P50402

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 the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent

export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative

cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase.

The association of viral DNA with chromatin requires the presence of BAF and EMD

Gene Wiki entry for EMD (Emerin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EMD gene upstream (promoter) region

:
AP-1 NF-kappaB1 MyoD Elk-1 p53 c-Fos c-Jun NF-kappaB TBP TFIID

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for EMD:

MePH28125-1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq27.3-q28

EMD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP153607: view genomic region (about GC identifiers)

Start:	153,607,557 bp from pter
End:	153,609,883 bp from pter
Size:	2,327 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.10 NT_167198.1

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: EMD_HUMAN, P50402 (See protein sequence)

Recommended Name: Emerin

Size: 254 amino acids; 28994 Da

Subunit: Interacts with lamins A and C, BANF1, GMCL, BCLAF1 and YTHDC1/YT521. Interacts with TMEM43; the interaction

retains emerin in the nuclear inner membrane (By similarity). Interacts with ACTB, SPTAN1, F-actin, CTNNB1 and

beta-tubulin

Subcellular location: Nucleus inner membrane; Single-pass membrane protein; Nucleoplasmic side. Nucleus outer membrane.

Note=Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites

PDB structures from and Proteopedia :

1JEI (3D)

2ODC (3D)

2ODG (3D)

Post-translational modifications:

Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000108.1

ENSEMBL proteins:

ENSP00000358857 ENSP00000401081 ENSP00000358850

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	HuPro® and/or Recombinant Proteins from Abnova for EMD
	Browse Origene full length recombinant human proteins expressed in human HEK293 cells
	Novus Biologicals Proteins for EMD
	Novus Biologicals Lysates for EMD
	Browse Sino Biological Recombinant Proteins

5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005635	nuclear envelope	IDA	11256614
GO:0005637	nuclear inner membrane	IEA	--
GO:0005640	nuclear outer membrane	IDA	17785515
GO:0005783	endoplasmic reticulum	IDA	18029348

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EMD for ontologies About GeneDecksing

Antibodies for EMD:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for EMD
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for EMD (Emerin)
	Monoclonal and Polyclonal Antibodies from Abnova (EMD)
	Browse Origene Antibodies
	Novus Biologicals Antibodies for EMD
	Browse antibodies at Epitomics

Assays for EMD:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Browse Enzo Life Sciences for kits & assays

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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EMD for domains About GeneDecksing

2 InterPro domains/families:

IPR003887 LEM

IPR011015 LEM-like_fold

Graphical View of Domain Structure for InterPro Entry P50402

ProtoNet protein and cluster: P50402

1 Blocks protein family: IPB011015 LEM-like fold

UniProtKB/Swiss-Prot: EMD_HUMAN, P50402

Similarity: Contains 1 LEM domain

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EMD)
		Origene 29mer shRNA kits in GFP-retroviral vector: EMD Origene shRNA RFP: EMD Origene basic RS shRNA: EMD
		Applied Biosystems Silencer® siRNAs for EMD
		Sigma-Aldrich siRNA for EMD Sigma-Aldrich shRNA for EMD Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector: EMD Origene Myc/DDK tagged cDNA clones in CMV expression vector: EMD Origene untagged cDNA clones in CMV expression vector: EMD
		Browse Sino Biological Human cDNA Clones

UniProtKB/Swiss-Prot: EMD_HUMAN, P50402

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 the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent

export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative

cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase.

The association of viral DNA with chromatin requires the presence of BAF and EMD

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IDA	15328537
GO:0005515	protein binding	IPI	15009215 15328537 15671068 16169070 16858403
GO:0048487	beta-tubulin binding	IDA	17785515

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EMD for ontologies About GeneDecksing

Animal Models: 4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Emd):

behavior/neurological

cardiovascular system

cellular

muscle

EMD for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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EMD for pathways About GeneDecksing

3 Kegg Pathways (Kegg details for EMD):

	hsa05410 Hypertrophic cardiomyopathy (HCM)
	hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
	hsa05414 Dilated cardiomyopathy

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EMD

5/53 Interacting proteins for EMD (P50402^{1, 2} ENSP00000358857³) via UniProtKB, MINT, and/or STRING (see all 53 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BCLAF1	Q9NYF8¹	EBI-489887,EBI-437804
SH3GL2	Q99962¹	EBI-489887,EBI-77938
CTNNB1	P35222²	MINT-2839107 MINT-2839079 MINT-2839008
ATP1A3	P13637²	MINT-6489217
C1QBP	Q07021²	MINT-6489217

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3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	TAS	7894480
GO:0007517	muscle organ development	TAS	7894480 8589715
GO:0031468	nuclear envelope reassembly	IEA	--

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EMD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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EMD for compounds About GeneDecksing

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for EMD
10/16 Novoseek chemical compound relationships for EMD gene (see all 16 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
terrein	2.62	1	15612624 (1)
stearoyl-coa	2.25	1	11352637 (1)
5-bromo-4-chloro-3-indolyl-beta-d-galactopyranoside	2.02	1	15565891 (1)
sterigmatocystin	1.33	1	15612624 (1)
rottlerin	1.30	1	17652388 (1)
sterol	0.74	2	11352637 (2)
neomycin	0.44	1	16507906 (1)
staurosporine	0.37	1	11749967 (1)
vinblastine	0.37	1	10569247 (1)
aflatoxin b1	0.32	1	15612624 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EMD)
		Applied Biosystems Silencer® siRNAs: NM_000117
		Origene 29mer shRNA kits in GFP-retroviral vector: EMD Origene shRNA RFP: EMD Origene basic RS shRNA: EMD
		Sigma-Aldrich siRNA for EMD Sigma-Aldrich shRNA for EMD Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:		2 SABiosciences microRNAs that regulate EMD:
		hsa-miR-124 hsa-miR-506

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_000117

Clones:

Origene GFP tagged cDNA clones in CMV expression vector: EMD
Origene Myc/DDK tagged cDNA clones in CMV expression vector: EMD
Origene untagged cDNA clones in CMV expression vector: EMD

Primers:		Origene genome-wide validated SYBR primer pairs: EMD
		SABiosciences RT2 qPCR Primer Assay for EMD: PPH07175A

REFSEQ mRNAs for EMD gene:

NM_000117.2

Additional cDNA sequence:

BC000738.2 BT007401.1 CR536536.1 CR591915.1 CR598116.1 CR607659.1 CR609721.1 CR614842.1

CR617769.1 CR618160.1 X82434.1

18 DOTS entries:

DT.452901 DT.100654666 DT.95158317 DT.95158321 DT.100029653 DT.121293898 DT.100852554 DT.91759686

DT.91759690 DT.100698710 DT.91759678 DT.95158323 DT.121293715 DT.121294672 DT.121294694 DT.86855273

DT.91906253 DT.121294329

24/260 AceView cDNA sequences (see all 260 ):

BE386256 BT007401 CA423084 BI223212 BM664411 BI861401 BM423742 AA912414

CA418796 CA446964 BM911716 BG251642 BE407140 BM694607 BU623099 CR617769

CR598116 CR591915 BU628604 BQ002953 AA394179 CR536536 N80263 BI832481

highest scoring ESTs for EMD:

AA484436 AA548044 BC000738 BE257297 BE274346 BE274428 BE275180 BE275420 BE275546 BE275667

Unigene Cluster for EMD:

Emerin

Hs.522823 [show with all ESTs]

Unigene Representative Sequence: BQ059597

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for EMD (see all 8 )

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2	^	3	^	4a	·	4b	·	4c	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c
SP1:																					-		-		-
SP2:											-										-		-		-
SP3:													-								-		-		-
SP4:																					-		-		-
SP5:

About this scheme

ECgene alternative splicing isoforms for EMD

9 Ensembl transcripts including schematic representations:

ENST00000369842 ENST00000486738 ENST00000471965 ENST00000494443 ENST00000485261 ENST00000428228

ENST00000468294 ENST00000492448 ENST00000369835

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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EMD expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for EMD

¹ / ² / ³

3 probe-sets matching EMD gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
35239_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	X86810	0.20	1.00	0.72	1
209477_at²^{, 3}	U133-A	1	0.91	1.00	--	--	BC000738	0.80	1.00	0.91	1
209477_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

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EMD for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: CATTCCTCCT

SOURCE GeneReport for Unigene cluster: Hs.522823

Expression variation in blood from EXPOLDB for EMD

UniProtKB/Swiss-Prot: EMD_HUMAN, P50402

Tissue specificity: Skeletal muscle, heart, colon, testis, ovary and pancreas

Primers:		Origene genome-wide validated SYBR primer pairs: EMD
		SABiosciences RT2 qPCR Primer Assay for EMD: PPH07175A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for EMD gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	EMD¹	--	emerin	97.21(n) 94.12(a)	465938 XM_521335.2 XP_521335.2
cow (Bos taurus)	EMD¹	--	emerin	82.08(n) 78.26(a)	399681 NM_203361.1 NP_976237.1
rat (Rattus norvegicus)	Emd¹	--	emerin	79.45(n) 76.28(a)	25437 NM_012948.1 NP_037080.1
mouse (Mus musculus)	Emd^{1, 5}	X (29.81 cM)⁵	emerin^{1, 5}	78.66(n)¹ 76.28(a)¹	13726¹ NM_007927.2¹ NP_031953.1¹ AI413932⁵ AK146361⁵ (see all 15)

About this table Species with no ortholog for EMD

ENSEMBL Gene Tree for EMD

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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5 NCBI SNPs in EMD are shown
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--			--
	rs17428^1,2	C,F,O,A	142187440(+)	`CAATCC/TGGCTT`	1	--	ng3¹		12	NA MN NS EA	940
--	rs17426^1,2	C,F,H	153609616(+)	`TGACTG/CCCTTA`	1	--	ut3¹ ese³		8	NA MN NS EA	582
--	rs17427^1,2	C,F	153609617(+)	`GACTGC/TCTTAG`	1	--	ut3¹ ese³		5	NA MN	354
	rs2070818^1,2	C,F	153609158(+)	`GCAAGG/CATAGG`	2	/H /D	mis¹ ref¹		8	NS EA	732
	rs2000995^1,2	C	142183509(+)	`CTCTTC/TTCCAT`	1	--	ng5¹ trp³		4	NS EA	418

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The following additional 8 SNP(s) have been found in Applied Biosystems data source:

(Click for Applied Biosystems TaqMan ® Genotyping Assay)

rs736579	rs2239470	rs28593002	rs28935169	rs5945423	rs6643848	rs6655285
rs6643847

HapMap Linkage Disequilibrium images for EMD (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for EMD
1 CNV: 31575
2 Inversions: 0674 37365

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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EMD for disorders About GeneDecksing

OMIM: 300384 disorders: 310300

UniProtKB/Swiss-Prot: EMD_HUMAN, P50402

Defects in EMD are the cause of Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]. A degenerative

myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures

of the elbows Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects

10/62 Novoseek disease relationships for EMD gene (see all 62 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dystrophy; muscular, emery-dreifuss	100.00	169	1998333 (9), 14959564 (6), 9949197 (5), 1525559 (5) (see all 100)
emery-dreifuss muscular dystrophy, x-linked	100.00	44	9195226 (3), 11839786 (3), 8589715 (2), 17462627 (2) (see all 35)
x-linked recessive	27.88	16	7894480 (1), 19789182 (1), 19008920 (1), 16550925 (1) (see all 16)
dystrophy (muscular)	20.04	16	9781539 (1), 19022376 (1), 18646565 (1), 17620497 (1) (see all 16)
autosomal dominant emery-dreifuss muscular dystrophy	13.55	5	16478798 (3), 15832002 (1), 11792810 (1)
cardiomyopathies	10.01	13	19022376 (3), 9536090 (1), 7894480 (1), 1998333 (1) (see all 11)
dystrophy; muscular, limb-girdle	9.35	6	17620497 (4), 18646565 (1), 15543503 (1)
nonsense mutation	8.19	7	15967842 (2), 9436433 (1), 17620497 (1), 17097067 (1) (see all 6)
tubular aggregates	8.13	4	15085358 (4)
contracture; joint	6.81	4	20175956 (1), 17620497 (1), 10965799 (1), 10533281 (1)

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GeneTests: EMD

Emery-Dreifuss Muscular Dystrophy

Locus Specific Mutation Databases: EMD
Human Gene Mutation Database: EMD

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/215 PubMed articles for EMD gene (see all 215 ):

Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro. (PubMed id 12493765)^{1, 3, 4} Holaska J.M.... Wilson K.L. (2003)
Emerin interacts in vitro with the splicing-associated factor, YT521- B. (PubMed id 12755701)^{1, 3, 4} Wilkinson F.L.... Morris G.E. (2003)
Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. (PubMed id 15009215)^{1, 3, 4} Haraguchi T.... Hiraoka Y. (2004)
Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PubMed id 15328537)^{1, 3, 4} Holaska J.M....Wilson K.L. (2004)
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? (PubMed id 11587540)^{1, 3, 4} Holt I.... Morris G.E. (2001)
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. (PubMed id 11470279)^{1, 3, 4} Wolff N....Zinn-Justin S. (2001)
BAF is required for emerin assembly into the reforming nuclear envelope. (PubMed id 11792822)^{1, 3, 4} Haraguchi T.... Hiraoka Y. (2001)
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (PubMed id 10323252)^{1, 3, 4} Ellis J.A.... Brown C.A. (1999)
The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity. (PubMed id 16680152)^{1, 3, 4} Jacque J.M. and Stevenson M. (2006)
The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus. (PubMed id 16858403)^{1, 3, 4} Markiewicz E....Hutchison C.J. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2010	HGNC: 3331	AceView: EMD	Ensembl:ENSG00000102119	euGenes: HUgn2010
ECgene: EMD	Kegg: 2010	H-InvDB: EMD

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
EMD db	http://www.dmd.nl/nmdb/index.php?select_db=EMD
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EMD

Intellectual Property for EMD gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

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Patent Information for EMD gene:

Search GeneIP for patents involving EMD

GeneCards and IP:

Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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Products for EMD:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for EMD		Antibodies for EMD
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for EMD		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		Browse ELISAs at Sigma-Aldrich
	Browse iPSC Reprogramming Factors at Sigma-Aldrich		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (EMD)
	Antibodies (EMD)
	Chimera RNAi (EMD)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for EMD (Emerin)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector
	Custom immunoassay development

Search Tocris compounds for EMD

	Regulatory tfbs in EMD upstream (promoter) region
	Search Chromatin IP Primers for EMD
	DNA Methylation qPCR Primer Assays for EMD
	RT2 qPCR Primer Assay for EMD
	GNC Network for EMD
	microRNAs that regulate EMD

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	Antibodies for EMD
	Proteins for EMD
	Lysates for EMD

Browse antibodies at Epitomics

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

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GeneCards Homepage - Last full update: 21 May 2010 - Incremental updates: 24 May 2010 , 20 Jun 2010

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Category			ACSF3 acyl-CoA synthetase family member 3
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splice-site mutation
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EMD Gene

protein-coding GIFtS: 61

Aliases & Descriptionsfor EMD gene

Summariesfor EMD gene

Genomic Viewsfor EMD gene

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Protein Domains/Familiesfor EMD gene

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Genome Databases showing EMD gene

Other Databases showing EMD gene

Specialized Databases showing EMD gene

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Aliases &
Descriptions
for EMD gene

Summaries
for EMD gene

Genomic Views
for EMD gene

Proteins
for EMD gene

Protein Domains/
Families
for EMD gene

Gene Function
for EMD gene

Pathways & Interactions
for EMD gene

Drugs & Compounds
for EMD gene

Transcripts
for EMD gene

Expression
for EMD gene

Orthologs
for EMD gene

Paralogs
for EMD gene

Genomic Variants
for EMD gene

Disorders & Mutations
for EMD gene

Medical News
for EMD gene

Publications
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Intellectual Property
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