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Gene id 2010
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol EMD   Gene   UCSC   Ensembl
Aliases EDMD, LEMD5, STA
Gene name emerin
Alternate names emerin, LEM domain containing 5,
Gene location Xq28 (154379235: 154381522)     Exons: 5     NC_000023.11
Gene summary(Entrez) 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
OMIM 300384

Protein Summary
Protein general information P50402  

Name: Emerin

Length: 254  Mass: 28994

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

Sequence MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYD
LPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDR
ERPMYGRDSAYQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPL
WGQLLLFLVFVIVLFFIYHFMQAEEGNPF
Structural information
Protein Domains
 (1..4-)
(/note="LEM-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00313"-)
Interpro:  IPR035004  IPR011015  IPR003887  IPR034989  
Prosite:   PS50954
CDD:   cd12939

PDB:  		 1JEI 2ODC 2ODG 6GHD
PDBsum:   1JEI 2ODC 2ODG 6GHD

DIP:  
34638
MINT:  
STRING:   ENSP00000358857
Other Databases GeneCards:  EMD  Malacards:  EMD

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005635 nuclear envelope
 IBA cellular component
GO:0005819 spindle
 IBA cellular component
GO:0031965 nuclear membrane
 IBA cellular component
GO:0048487 beta-tubulin binding
 IBA molecular function
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 IBA biological process
GO:0003779 actin binding
 IBA molecular function
GO:0005637 nuclear inner membrane
 IBA cellular component
GO:0003779 actin binding
 IDA molecular function
GO:0005637 nuclear inner membrane
 IDA cellular component
GO:0048487 beta-tubulin binding
 IDA molecular function
GO:0005640 nuclear outer membrane
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005635 nuclear envelope
 IEA cellular component
GO:0003779 actin binding
 IEA molecular function
GO:0005874 microtubule
 IEA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005635 nuclear envelope
 TAS cellular component
GO:0006936 muscle contraction
 TAS biological process
GO:0007517 muscle organ development
 TAS biological process
GO:0007517 muscle organ development
 TAS biological process
GO:0005635 nuclear envelope
 TAS cellular component
GO:0005635 nuclear envelope
 TAS cellular component
GO:0005635 nuclear envelope
 TAS cellular component
GO:0007084 mitotic nuclear envelope
reassembly
 TAS biological process
GO:0005635 nuclear envelope
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005635 nuclear envelope
 IEA cellular component
GO:0031965 nuclear membrane
 IEA cellular component
GO:0035914 skeletal muscle cell diff
erentiation
 IEA biological process
GO:0045296 cadherin binding
 HDA molecular function
GO:0005637 nuclear inner membrane
 NAS cellular component
GO:0046827 positive regulation of pr
otein export from nucleus
 IMP biological process
GO:0071363 cellular response to grow
th factor stimulus
 IMP biological process
GO:0005635 nuclear envelope
 IDA cellular component
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 IMP biological process
GO:0048147 negative regulation of fi
broblast proliferation
 IMP biological process
GO:0060828 regulation of canonical W
nt signaling pathway
 IMP biological process
GO:0005637 nuclear inner membrane
 IEA cellular component
GO:0005640 nuclear outer membrane
 IEA cellular component
GO:0005783 endoplasmic reticulum
 IDA cellular component
GO:0031965 nuclear membrane
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005635 nuclear envelope
 IDA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:0031616 spindle pole centrosome
 IDA colocalizes with
GO:0032541 cortical endoplasmic reti
culum
 IDA colocalizes with
GO:0016020 membrane
 HDA cellular component
GO:0005635 nuclear envelope
 IMP colocalizes with
GO:0005515 protein binding
 IPI molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy
hsa05412Arrhythmogenic right ventricular cardiomyopathy

Diseases

Expand All | Collapse All
Associated diseases References
Emery-Dreifuss muscular dystrophy KEGG:H00563
Emery-Dreifuss muscular dystrophy KEGG:H00563
Emery-Dreifuss muscular dystrophy PMID:7894480
Cardiomyopathy PMID:24997722
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract