Property Summary

NCBI Gene PubMed Count 98
Grant Count 114
R01 Count 72
Funding $10,929,172.18
PubMed Score 617.58
PubTator Score 278.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
diabetes mellitus -1.200 0.002

Synonym

Accession P50402 Q6FI02
Symbols STA
EDMD
LEMD5

Gene

EMD

PDB

1JEI   2ODC   2ODG  

Gene RIF (56)

PMID Text
25502304 X-linked Emery-Dreifuss muscular dystrophy may occur along with dilative cardiomyopathy.
25052089 Association of emerin with nuclear BAF in cells required the LEM domain (residues 1-47).
24997722 Findings show a novel EMD deletion causing rare clinical presentations which broaden the heterogeneous spectrum of phenotypes attributed to EMD mutations and provide new insight of genotype-phenotype correlations between EMD mutations and EDMD symptoms.
24950247 the nucleoplasmic domains of Samp1 and Emerin can bind directly to each other.
24819607 These data suggest a new role of EMD as an enhancer of autophagosome formation in the C16-ceramide autophagy pathway in colon cancer cells.
24375709 Results highlight the interactions at the nuclear envelope where mutations in the EMD and TMPO gene in combination with mutations in SUN1 have an impact on several components of the network.
24014020 Emerin and BAF associated only in histone- and lamin-B-containing fractions. The S173D mutation specifically and selectively reduced GFP-emerin association with BAF by 58%
23873439 Emerin, a conserved LEM-domain protein, is among the few nuclear membrane proteins for which extensive basic knowledge--biochemistry, partners, functions, localizations, posttranslational regulation, roles in development and links to human disease
23623980 Immunofluorescence assay and biochemical analysis of infected or transfected cells showed that Kaposi's sarcoma-associated herpesvirus p29 expression resulted in delocalization and hyperphosphorylation of emerin.
22480903 Genetic testing identified the mutation in the EMD gene, confirming X-linked recessive (XR) EDMD. The patient's asymptomatic mother was confirmed as a carrier.
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AA Sequence

MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGD      1 - 70
ADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLL     71 - 140
SSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPEN    141 - 210
RAPGAGLGQDRQVPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF                              211 - 254
//

Text Mined References (113)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25502304 2015 Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
25416956 2014 A proteome-scale map of the human interactome network.
25052089 2014 The molecular basis of emerin-emerin and emerin-BAF interactions.
24997722 2014 Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.
24950247 2014 MCLIP, an effective method to detect interactions of transmembrane proteins of the nuclear envelope in live cells.
24819607 2014 New role for EMD (emerin), a key inner nuclear membrane protein, as an enhancer of autophagosome formation in the C16-ceramide autophagy pathway.
24375709 2014 Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies.
More...