CD27

Chr 12p13.31

CD27 molecule

Aliases:: S152, Tp55
MANE:: ENST00000266557.4

OMIM: 186711 ↗NCBI: 939 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CD27 · P26842

v62025-08-01

Predicted Aligned Error matrix for CD27 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.7/ 100

Confident

260 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)9%
Low(50–70)20%
Very low(< 50)29%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lymphoproliferative syndrome 2
0.70
lymphoproliferative syndrome
0.60
combined immunodeficiency
0.57
autosomal recessive lymphoproliferative disease
0.55
severe combined immunodeficiency
0.46
Immunodeficiency
0.43
Combined T and B cell immunodeficiency
0.43
neurodegenerative disease
0.38
hereditary disease
0.19
autoinflammatory syndrome
0.17

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

CD27 antigen

Costimulatory immune-checkpoint receptor expressed at the surface of T-cells, NK-cells and B-cells which binds to and is activated by its ligand CD70/CD27L expressed by B-cells (PubMed:28011863). The CD70-CD27 signaling pathway mediates antigen-specific T-cell activation and expansion which in turn provides immune surveillance of B-cells (PubMed:28011863). Mechanistically, CD70 ligation activates the TRAF2-PTPN6 axis that subsequently inhibits LCK phosphorylation to promote phenotypic and transcriptional adaptations of T-cell memory (PubMed:38354704). In addition, activation by CD70 on early progenitor cells provides a negative feedback signal to leukocyte differentiation during immune activation and thus modulates hematopoiesis (By similarity). Negatively regulates the function of Th2 lymphocytes in the adipose tissue (By similarity)