Overview

Location [1]
2q37.3
Protein [2]
Programmed cell death protein 1
Synonyms [1]
CD279, hPD-l, SLEB2, PD1, hSLE1, PD-1, hPD-1

Programmed cell death 1 (PDCD1) is a gene that encodes a cell surface membrane protein that belongs to the immunoglobulin superfamily. The protein functions in the differentiation of pro-B-cells. The protein may also be important for T-cell functioning and the prevention of autoimmune diseases. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

PDCD1 is altered in 0.29% of all cancers with uterine corpus leiomyosarcoma, prostate adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

PDCD1 GENIE Cases - Top Diseases

The most common alterations in PDCD1 are PDCD1 Loss (0.18%) and PDCD1 Amplification (0.00%) [3].

PDCD1 GENIE Cases - Top Alterations

Significance of PDCD1 in Diseases

Angioimmunoblastic T-Cell Lymphoma +

Follicular T-Cell Lymphoma +

Nodal Peripheral T-Cell Lymphoma With TFH Phenotype +

Peripheral T-Cell Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.