Skip to content
Use your HSA or FSA funds

Gene

EMD

emerin

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 154,379,295–154,381,523 (GRCh38)
Exons
6 exons across 2.2 kb
Protein
254 amino acids
Also known as
STA, LEMD5
MANE Select transcript
ENST00000369842.9NM_000117.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

How EMD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where EMD sits. EMD and 38 genes near it on chromosome X, from 153,880,409 to 154,880,408.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28154 Mb154.2 Mb154.4 Mb154.6 Mb154.8 MbL1CAM: 153,861,511–153,886,204, reverse strand: 153,872,221–153,909,223, reverse strandAVPR2: 153,902,531–153,907,169, forward strandAVPR2ARHGAP4: 153,907,367–153,934,999, reverse strandNAA10: 153,928,799–153,935,083, reverse strandNAA10RENBP: 153,935,269–153,944,688, reverse strandRENBPHCFC1: 153,946,434–153,972,427, reverse strandHCFC1TMEM187: 153,972,290–153,983,194, forward strandTMEM187IRAK1: 154,010,501–154,020,650, reverse strandIRAK1MECP2: 154,021,573–154,137,103, reverse strandMECP2OPN1LW: 154,144,243–154,159,032, forward strandOPN1LWOPN1MW: 154,182,596–154,196,861, forward strandOPN1MWOPN1MW2: 154,219,756–154,233,286, forward strandOPN1MW2OPN1MW3: 154,257,582–154,271,090, forward strandOPN1MW3TEX28: 154,271,265–154,295,853, reverse strandTEX28TKTL1: 154,295,795–154,330,350, forward strandTKTL1FLNA: 154,348,524–154,374,643, reverse strandFLNAEMD: 154,379,295–154,381,523, forward strandEMDRPL10: 154,389,955–154,409,168, forward strandRPL10DNASE1L1: 154,401,236–154,412,119, reverse strandDNASE1L1TAFAZZIN: 154,409,456–154,421,726, forward strandATP6AP1: 154,428,618–154,436,517, forward strandATP6AP1GDI1: 154,436,600–154,443,467, forward strandFAM50A: 154,444,103–154,450,655, forward strandPLXNA3: 154,458,275–154,477,779, forward strandPLXNA3LAGE3: 154,477,598–154,479,291, reverse strandLAGE3UBL4A: 154,483,717–154,486,661, reverse strandUBL4ASLC10A3: 154,487,306–154,490,690, reverse strandFAM3A: 154,505,019–154,516,882, reverse strandG6PD: 154,517,825–154,547,584, reverse strandG6PDIKBKG: 154,541,179–154,568,543, forward strandIKBKGCTAG1A: 154,585,133–154,586,816, forward strandCTAG1ACTAG1B: 154,617,609–154,619,282, reverse strandCTAG1BCTAG2: 154,651,972–154,653,579, reverse strandCTAG2GAB3: 154,675,249–154,751,583, reverse strandGAB3DKC1: 154,762,741–154,777,697, forward strandDKC1MPP1: 154,778,684–154,821,039, reverse strandMPP1SMIM9: 154,823,348–154,834,662, reverse strandSMIM9F8: 154,835,788–155,026,940, reverse strandF8Diagram of EMD: 6 exons on the forward strand of chromosome XExon 1: 10 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 26 known disease-causing sitesExon 1: 154,379,295–154,379,566, 272 basesExon 2: 154,379,690–154,379,794, 105 basesExon 3: 154,379,942–154,380,019, 78 basesExon 4: 154,380,234–154,380,367, 134 basesExon 5: 154,380,753–154,380,802, 50 basesExon 6: 154,380,882–154,381,523, 642 bases1234565′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.3 kb of the gene's 2.2 kb; 765 of those bases code for the protein.

How a genome test reads EMD

79

positions in EMD where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2.2 kb of EMD, introns included, not only the 1.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EMD gene: emerin. Retrieved 16 October 2026, from https://dantelabs.com/genes/emd

Vancouver

Dante Labs. EMD gene: emerin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/emd

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test