Gene
PDCD1
programmed cell death 1
- HGNC 8760↗(opens in a new tab)
- Ensembl gene ENSG00000188389↗(opens in a new tab)
- NCBI Gene 5133↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q37.3
- Coordinates
- Chromosome 2: 241,849,884–241,858,894 (GRCh38)
- Exons
- 5 exons across 9 kb
- Protein
- 288 amino acids
- Also known as
- CD279, PD1, hSLE1, PD-1
- Previous symbols
- SLEB2
- MANE Select transcript
- ENST00000334409.10NM_005018.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How PDCD1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
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 2.1 kb of the gene's 9 kb; 867 of those bases code for the protein.
Traits linked to PDCD1
The Human Phenotype Ontology lists these as features of the rare conditions PDCD1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the immune system
- Anti-insulin antibody positivity
- Extrapulmonary tuberculosis
- Immune dysregulation
- Antinuclear antibody positivity
- Anti-complement component C1q antibody positivity
- Anti-ribosome Po antibody positivity
- Anti-titin antibody positivity
- Antineutrophil antibody positivity
Show 12 more traits
- Decreased circulating complement C3 concentration
- Decreased circulating complement C4 concentration
- Malar rash
- Anti-dsDNA antibody positivity
- Anti-La/SS-B antibody positivity
- Anti-nucleoporin 62 antibody positivity
- Anti-phosphatidic acid antibody positivity
- Anti-Ro52/TRIM21 antibody positivity
- Anti-Sm antibody positivity
- Anti-U1 ribonucleoprotein antibody positivity
- Discoid lupus rash
- Serositis
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). PDCD1 gene: programmed cell death 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pdcd1
Dante Labs. PDCD1 gene: programmed cell death 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pdcd1
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