AtlasGene
CD27
CD27 molecule
- HGNC 11922↗(opens in a new tab)
- Ensembl gene ENSG00000139193↗(opens in a new tab)
- NCBI Gene 939↗(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.31
- Coordinates
- Chromosome 12: 6,444,955–6,451,713 (GRCh38)
- Exons
- 6 exons across 6.8 kb
- Protein
- 260 amino acids
- Also known as
- S152, Tp55
- Previous symbols
- TNFRSF7
- MANE Select transcript
- ENST00000266557.4NM_001242.5
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
EBV-Driven Lymphoproliferation and CARD11 Immune Dysregulation
- CD27 deficiencyAutosomal recessive
Caused by changes in CD27, it leads to persistent EBV infection, overgrowth of lymphocytes and a risk of lymphoma and hemophagocytic lymphohistiocytosis.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
▶Actionability
Monitoring for EBV and lymphoma allows early treatment, and a stem cell transplant may be considered.
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
How CD27 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 1.2 kb of the gene's 6.8 kb; 783 of those bases code for the protein.
Sequencing CD27
0Low
How hard CD27 is to sequence with short reads, out of 100Each bar is the share of CD27'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%
- 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%.0%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.0%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
14
positions in CD27 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 6.8 kb of CD27, introns included, not only the 1.2 kb of exons.
Genes linked to the same conditions
- ADARadenosine deaminase RNA specificShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AP3B1adaptor related protein complex 3 subunit beta 1Shares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
- BCL11BBCL11 transcription factor BShares 1 condition
- BLNKB cell linkerShares 1 condition
- BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6Shares 1 condition
- BTKBruton tyrosine kinaseShares 1 condition
- C1QAcomplement C1q A chainShares 1 condition
- C1QBcomplement C1q B chainShares 1 condition
- C1QCcomplement C1q C chainShares 1 condition
Traits linked to CD27
The Human Phenotype Ontology lists these as features of the rare conditions CD27 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.). CD27 gene: CD27 molecule. Retrieved 17 October 2026, from https://dantelabs.com/genes/cd27
Dante Labs. CD27 gene: CD27 molecule [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cd27
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