PDCD6 Gene Summary [Human]

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]

Details

Type
Protein Coding
Official Symbol
PDCD6
Official Name
programmed cell death 6 [Source:HGNC Symbol;Acc:HGNC:8765]
Ensembl ID
ENSG00000249915
Bio databases IDs NCBI: 10016 Ensembl: ENSG00000249915
Aliases programmed cell death 6, apoptosis-linked gene-2
Synonyms ALG-2, LOC100129491, MA-3, PEF1B, programmed cell death 6, PS2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDCD6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • EF-Hand
  • protein dimerization
  • calcium-dependent protein binding
  • EF-hand, calcium binding motif
  • dimerization domain
  • EF-hand domain pair
  • protein binding activity, bridging
  • calcium ion binding
  • EFh
  • calcium binding loop
  • protein binding
  • magnesium ion binding
  • identical protein binding
  • EF hand like domain
  • The penta-EF hand (PEF) family
  • EF-hand domain
  • EF hand
  • protein homodimerization
  • protein heterodimerization
  • hydrophobic domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hearing loss
  • breast carcinoma
  • small cell lung carcinoma
  • small cell lung cancer
regulated by
regulates
role in cell
  • activation in
  • accumulation in
  • proliferation
  • apoptosis
  • binding in
  • migration
  • clustering
  • quantity
  • fusion
  • response by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • nuclear fraction
  • soluble fraction
  • perinuclear region
  • cellular membrane
  • Nucleus
  • Plasma Membrane
  • Endoplasmic Reticulum
  • cytosol
  • endoplasmic reticulum exit sites
  • nucleoplasm
  • nucleoli
  • cytoplasmic vesicles
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PDCD6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • neural crest cell development
  • apoptotic signaling pathway
  • intracellular protein transport
  • positive regulation of angiogenesis
  • COPII vesicle coating
  • positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
  • ER to Golgi vesicle-mediated transport
  • cellular response to heat
  • angiogenesis
  • response to calcium ion
  • negative regulation of vascular endothelial growth factor receptor signaling pathway
  • positive regulation of endothelial cell proliferation
  • negative regulation of TOR signaling cascade
  • positive regulation of endothelial cell migration
  • neural crest formation
  • negative regulation of protein kinase B signaling cascade

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum
  • nucleoplasm
  • endoplasmic reticulum membrane
  • nucleus
  • perinuclear region of cytoplasm
  • extracellular vesicular exosome
  • endosome
  • cytoplasm
  • cytoplasmic vesicle
  • cytosol
  • endoplasmic reticulum exit site
  • Cul3-RING ubiquitin ligase complex
  • COPII vesicle coat

Molecular Function

What the gene product does at the molecular level
  • magnesium ion binding
  • identical protein binding
  • protein homodimerization activity
  • protein binding
  • protein heterodimerization activity
  • calcium ion binding
  • protein anchor
  • calcium-dependent protein binding
  • protein dimerization activity
  • protein binding, bridging

Gene-Specific Assays for Results You Can Trust

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