PDCD2 Gene - Programmed Cell Death 2

A key regulator of apoptosis and cell cycle progression

Gene Information Card

Symbol PDCD2
Full Name Programmed Cell Death 2
Gene Type Protein coding
Chromosomal Location 6q27
NCBI Gene ID 5134 ncbi.nlm.nih.gov/gene/5134
Ensembl ID ENSG00000112294
UniProt ID Q16342
OMIM ID 170730
HGNC ID 8764
Aliases RP8, DKFZp686M0520

Description

PDCD2 (Programmed Cell Death 2) is a protein-coding gene located on chromosome 6q27. It encodes a nuclear protein involved in the regulation of apoptosis and cell cycle progression. PDCD2 is highly conserved across species and is thought to function as a transcriptional repressor, playing a role in programmed cell death and cellular differentiation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) PDCD2 downregulation may promote cell survival and tumorigenesis by impairing apoptosis. COSMIC, NCBI
Neurodegenerative disorders Altered PDCD2 expression may affect neuronal cell death pathways. NCBI, UniProt

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Lymph node 10.2 Medium
Bone marrow 9.8 Medium
Brain 6.1 Low
Heart 5.3 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 14.0 Cervical cancer cell line
K562 11.5 Leukemia cell line
HEK293 9.2 Embryonic kidney cell line
HepG2 8.7 Liver cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.1% Unknown functional impact
c.100C>T Nonsense <0.1% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations (e.g., c.100C>T) are predicted to cause loss of function.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

• apoptotic process • negative regulation of cell cycle
• nucleus • protein binding
• transcription repressor activity

Pathways

• Apoptosis
• p53 signaling pathway

Protein Summary

The PDCD2 protein is a 344-amino acid nuclear protein with a conserved domain of unknown function (DUF). It is involved in apoptosis and cell cycle regulation, likely acting as a transcriptional repressor. PDCD2 interacts with various proteins, including those in the p53 pathway, and its expression is altered in several cancers.

Related Products

Product name Cat.No. Species Gene ID
PDCD2 Knockout HEK293 Cell Line EDJ-KQ50505 Human 5134 Details Get a Quote
PDCD2L Knockout HEK293 Cell Line EDJ-KQ51836 Human 84306 Details Get a Quote
PDCD2 Knockout HeLa Cell Line EDJ-KQ54099 Human 5134 Details Get a Quote
PDCD2L Knockout HeLa Cell Line EDJ-KQ57578 Human 84306 Details Get a Quote
PDCD2 Knockout A-549 Cell Line EDJ-KQ62588 Human 5134 Details Get a Quote
PDCD2L Knockout A-549 Cell Line EDJ-KQ66074 Human 84306 Details Get a Quote
PDCD2 Knockout HCT 116 Cell Line EDJ-KQ71056 Human 5134 Details Get a Quote
PDCD2L Knockout HCT 116 Cell Line EDJ-KQ74496 Human 84306 Details Get a Quote
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