AFP Gene Summary [Human]

This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Oct 2019]

Details

Type
Processed Transcript
Official Symbol
AFP
Official Name
alpha fetoprotein [Source:HGNC Symbol;Acc:HGNC:317]
Ensembl ID
ENSG00000081051
Bio databases IDs NCBI: 174 Ensembl: ENSG00000081051
Aliases alpha fetoprotein, alpha-fetoprotein
Synonyms AFPD, Alpha fetoprotein, FETA, Fetoprotein α, HPAFP, α 1 fetoprotein, α fetoprotein, α foetoprotein
Species
Human, Homo sapiens
OrthologiesMouse

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 AFP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ALBUMIN
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • metastasis
  • lung cancer
  • premature ovarian failure
  • hepatocellular carcinoma
  • alpha feto-protein deficiency
  • liver cancer
  • hereditary persistence of alpha-fetoprotein
  • gastric cancer
  • malignant ovarian germ cell tumor
regulated by
regulates
role in cell
  • cell death
  • proliferation
  • migration
  • apoptosis
  • growth
  • activation
  • quantity
  • invasion by
  • expression in
  • number

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Cytoplasm
  • endoplasmic reticulum lumen
  • exosomes
  • plasma

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • progesterone metabolic process
  • ovulation from ovarian follicle
  • transport

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • extracellular space
  • cytoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding
  • small molecule binding

Gene-Specific Assays for Results You Can Trust

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