Gene
EMP2
epithelial membrane protein 2
- HGNC 3334↗(opens in a new tab)
- Ensembl gene ENSG00000213853↗(opens in a new tab)
- NCBI Gene 2013↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p13.13
- Coordinates
- Chromosome 16: 10,528,422–10,580,598 (GRCh38)
- Exons
- 5 exons across 52.2 kb
- Protein
- 167 amino acids
- Also known as
- XMP
- MANE Select transcript
- ENST00000359543.8NM_001424.6
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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Get my Genome TestCurated report relevant to this gene
Nephrotic Syndrome
- Nephrosis
Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.
- 1 GenCC submitter rates it definitive or strong
How EMP2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 5.1 kb of the gene's 52.2 kb; 504 of those bases code for the protein.
Sequencing EMP2
2Low
How hard EMP2 is to sequence with short reads, out of 100Each bar is the share of EMP2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0.6%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.5.7%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.6.7%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
2
positions in EMP2 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 52.2 kb of EMP2, introns included, not only the 5.1 kb of exons.
Genes linked to the same conditions
- ACTN4actinin alpha 4Shares 1 condition
- ARHGDIARho GDP dissociation inhibitor alphaShares 1 condition
- COQ6coenzyme Q6, monooxygenaseShares 1 condition
- COQ8Bcoenzyme Q8BShares 1 condition
- DAAM2dishevelled associated activator of morphogenesis 2Shares 1 condition
- DGKEdiacylglycerol kinase epsilonShares 1 condition
- DLC1DLC1 Rho GTPase activating proteinShares 1 condition
- ITSN1intersectin 1Shares 1 condition
- ITSN2intersectin 2Shares 1 condition
- KANK2KN motif and ankyrin repeat domains 2Shares 1 condition
- LAMA5laminin subunit alpha 5Shares 1 condition
- LAMB2laminin subunit beta 2Shares 1 condition
Traits linked to EMP2
The Human Phenotype Ontology lists these as features of the rare conditions EMP2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). EMP2 gene: epithelial membrane protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/emp2
Dante Labs. EMP2 gene: epithelial membrane protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/emp2
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