Alt. symbols: CD27LG | TNFSF7 | CD27L

Approved name: CD70 molecule
Alt. names: tumor necrosis factor (ligand) superfamily, member 7

Location: 19p13.3: 6583183 - 6604103 (-)
Gene type: protein_coding, 3 transcripts.

Scores: LoFtool: 0.259000 | pLI: 0.04575221 | LOEUF: 1.746

HGNC: 11937

NCBI: 970, RefSeq: .0

Ensembl: ENSG00000125726.11

LRG_ | Status: none

OMIM: 602840

Expression | ProteinAtlas

CD70 encodes a TNFSF ligand for the CD27 receptor, transducing signals that lead to the downstream activation of NF-kB and MAPK8/JNK. Signaling through CD27/CD70 is required for the generation and long-term maintenance of T cell immunity, including survival of activated T cells, and plays a key role in regulating B-cell activation and Ig synthesis by T cells. CD70 is expressed on activated T and B cells, while CD27 is expressed on resting T and B cells (PMID: 7479974).

Mutations in both CD27 and CD70 have been reported to be associated with CVID in both single case reports and WES cohorts (PMID: 31942606). However, significantly fewer examples of CD70 deficiency, associated with autosomal recessive LPFS3 [MIM:618261], are known relative to CD27 deficiency. Like the latter, these patients show hypogammaglobulinemia (for which at least 1 was given a CVID diagnosis) and increased susceptibility to EBV infection, resulting in abnormal B-cell proliferation and inc reased B-cell malignancy risk. Albohassani et al. (2017) noted that, despite overall normal levels of lymphocytes and T-cell proliferative responses, memory B cells and EBV-specific effector memory CD8+ T cell levels and activity were reduced, reflecting impaired activation (PMID: 28011864). [Load More]