Seroatlas · Human Serome Atlas

EMD

Emerin

Also known as: EMD_HUMAN, LEMD5, STA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P50402
Gene
EMD
Ensembl
ENSG00000102119
Chromosome
X
Canonical length
254 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location
Nuclear membrane,Endoplasmic reticulum

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

254 residues, UniProt reviewed canonical sequence.

>P50402|EMD
     1  MDNYADLSDT ELTTLLRRYN IPHGPVVGST RRLYEKKIFE YETQRRRLSP PSSSAASSYS
    61  FSDLNSTRGD ADMYDLPKKE DALLYQSKGY NDDYYEESYF TTRTYGEPES AGPSRAVRQS
   121  VTSFPDADAF HHQVHDDDLL SSSEEECKDR ERPMYGRDSA YQSITHYRPV SASRSSLDLS
   181  YYPTSSSTSF MSSSSSSSSW LTRRAIRPEN RAPGAGLGQD RQVPLWGQLL LFLVFVIVLF
   241  FIYHFMQAEE GNPF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EMD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.64
Highest tissue expression
93 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 93 nTPM
  • endometrium: 57 nTPM
  • blood vessel: 56 nTPM
  • ovary: 53 nTPM
  • fallopian tube: 46 nTPM
  • tongue: 45 nTPM

Single-cell type

  • megakaryocytes: 272 nCPM
  • platelets: 199 nCPM
  • syncytiotrophoblasts: 151 nCPM
  • esophageal apical cells: 136 nCPM
  • decidual stromal cells: 110 nCPM
  • esophageal suprabasal cells: 110 nCPM

Immune cell

  • plasmacytoid DC: 66 nTPM
  • gdT-cell: 55 nTPM
  • memory CD8 T-cell: 52 nTPM
  • T-reg: 52 nTPM
  • eosinophil: 51 nTPM
  • MAIT T-cell: 50 nTPM

Brain region

  • hypothalamus: 41 nTPM
  • thalamus: 41 nTPM
  • white matter: 40 nTPM
  • spinal cord: 39 nTPM
  • midbrain: 37 nTPM
  • medulla oblongata: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EMD.

Disease | AllUniProt

Conditions EMD is implicated in, by any mechanism.

  • Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) MIM:310300

Disease | GeneticClinVar

104 pathogenic / likely-pathogenic of 677 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.35
gnomAD pLI
0.93
gnomAD missense Z
-0.16
DepMap mean gene effect
0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EMD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EMD as an antibody target. Whether an autoantibody or antibody against EMD could matter depends on whether native EMD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EMD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EMD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EMD. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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