Homo sapiens Gene: EMD
Summary
InnateDB Gene IDBG-91213.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EMD
Gene Name emerin
Synonyms EDMD; LEMD5; STA
Species Homo sapiens
Ensembl Gene ENSG00000102119
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:154379197-154381523
Strand Forward strand
Band q28
Transcripts
ENST00000369842 ENSP00000358857
ENST00000369835 ENSP00000358850
ENST00000428228 ENSP00000401081
ENST00000486738
ENST00000485261
ENST00000494443
ENST00000468294
ENST00000492448
ENST00000471965
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 148 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 148 [view]
Protein-Protein 146 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0048487 beta-tubulin binding
Biological Process
GO:0000278 mitotic cell cycle
GO:0006936 muscle contraction
GO:0007077 mitotic nuclear envelope disassembly
GO:0007084 mitotic nuclear envelope reassembly
GO:0007517 muscle organ development
GO:0035414 negative regulation of catenin import into nucleus
GO:0035914 skeletal muscle cell differentiation
GO:0046827 positive regulation of protein export from nucleus
GO:0048147 negative regulation of fibroblast proliferation
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0071363 cellular response to growth factor stimulus
Cellular Component
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005637 nuclear inner membrane
GO:0005640 nuclear outer membrane
GO:0005783 endoplasmic reticulum
GO:0005874 microtubule
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Clearance of Nuclear Envelope Membranes from Chromatin pathway
Initiation of Nuclear Envelope Reformation pathway
Cell Cycle pathway
M Phase pathway
Mitotic Anaphase pathway
Mitotic Prophase pathway
Nuclear Envelope Reassembly pathway
Cell Cycle, Mitotic pathway
Depolymerisation of the Nuclear Lamina pathway
Nuclear Envelope Breakdown pathway
Mitotic Metaphase and Anaphase pathway
KEGG
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.625876
RefSeq NM_000117
HUGO
OMIM
CCDS CCDS14745
HPRD 02309
IMGT
EMBL
GenPept
RNA Seq Atlas