GenAge entry for EMD (Homo sapiens)

Gene name (HAGRID: 121)

HGNC symbol
EMD 
Aliases
STA; LEMD5 
Common name
emerin 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description

EMD is likely involved in nuclear structure and stabilization. Mutations in EMD cause Emery-Dreifuss muscular dystrophy [618]. Some mutations in LMNA also cause the same disease. The relation between EMD and LMNA, and the functions of EMD in the nuclear lamina [1307], may indicate a role for EMD in ageing, even though at present this is just an unproven hypothesis.

Cytogenetic information

Cytogenetic band
Xq28
Location
154,379,237 bp to 154,381,523 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: 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
GO:0098609; cell-cell adhesion
And 1 more GO terms
Cellular component: GO:0005635; nuclear envelope
GO:0005637; nuclear inner membrane
GO:0005640; nuclear outer membrane
GO:0005783; endoplasmic reticulum
GO:0005874; microtubule
GO:0005913; cell-cell adherens junction
GO:0016020; membrane
GO:0016021; integral component of membrane
GO:0031965; nuclear membrane
Function: GO:0003779; actin binding
GO:0005515; protein binding
GO:0048487; beta-tubulin binding
GO:0098641; cadherin binding involved in cell-cell adhesion
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
LMNA, HDAC3, EGFR, NCOR1, EGF, PRKDC, XRCC6, EMD, HDAC1, HSPA1A, LMNB1, JAK2, ESR1, CTNNB1
STRING interaction network
Protein-Protein network diagram for EMD

Retrieve sequences for EMD

Promoter
Promoter
ORF
ORF
CDS
CDS

Homologs in model organisms

Mus musculus
Emd
Rattus norvegicus
Emd

Selected references

External links

EPD
HS_EMD
ORF Accession
NM_000117
CDS Accession
NP_000108
OMIM
300384
HPRD
02309
Ensembl
EMD
UniProt/Swiss-Prot
EMD_HUMAN
GeneCards
EMD
Entrez Gene
2010
UniGene
522823
GenAtlas
EMD
Internet
Search Google