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Aliases for AFP Gene

Aliases for AFP Gene

  • Alpha-Fetoprotein 2 3
  • Alpha-1-Fetoprotein 3 4
  • Alpha-Fetoglobulin 3 4
  • HPAFP 3 4
  • AFPD 3
  • FETA 3
  • HP 6

External Ids for AFP Gene

Previous HGNC Symbols for AFP Gene


Previous GeneCards Identifiers for AFP Gene

  • GC04P074291
  • GC04P074541
  • GC04P074703
  • GC04P074768
  • GC04P074666
  • GC04P070113
  • GC04P074298
  • GC04P074302
  • GC04P074308

Summaries for AFP Gene

Entrez Gene Summary for AFP Gene

  • 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 hepatoma or teratoma. 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, Jul 2008]

GeneCards Summary for AFP Gene

AFP (Alpha-Fetoprotein) is a Protein Coding gene. Diseases associated with AFP include alpha-fetoprotein deficiency and hereditary persistence of alpha-fetoprotein. Among its related pathways are amb2 Integrin signaling and Hippo signaling pathway. An important paralog of this gene is AFM.

UniProtKB/Swiss-Prot for AFP Gene

  • Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties

Gene Wiki entry for AFP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFP Gene

Genomics for AFP Gene

Regulatory Elements for AFP Gene

Genomic Location for AFP Gene

73,431,138 bp from pter
73,456,174 bp from pter
25,037 bases
Plus strand

Genomic View for AFP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFP Gene

Proteins for AFP Gene

  • Protein details for AFP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2RBU3

    Protein attributes for AFP Gene

    609 amino acids
    Molecular mass:
    68678 Da
    Quaternary structure:
    • Dimeric and trimeric forms have been found in addition to the monomeric form

    Three dimensional structures from OCA and Proteopedia for AFP Gene

neXtProt entry for AFP Gene

Proteomics data for AFP Gene at MOPED

Post-translational modifications for AFP Gene

  • Independent studies suggest heterogeneity of the N-terminal sequence of the mature protein and of the cleavage site of the signal sequence
  • Sulfated.
  • Glycosylation at Asn251
  • Modification sites at PhosphoSitePlus

Other Protein References for AFP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for AFP (alpha-Fetoprotein/AFP)
  • Cell Signaling Technology (CST) Antibodies for AFP (AFP)

No data available for DME Specific Peptides for AFP Gene

Domains for AFP Gene

Suggested Antigen Peptide Sequences for AFP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P02771
  • Contains 3 albumin domains.
  • Belongs to the ALB/AFP/VDB family.
genes like me logo Genes that share domains with AFP: view

No data available for Gene Families for AFP Gene

Function for AFP Gene

Molecular function for AFP Gene

GENATLAS Biochemistry: alpha-fetoprotein
UniProtKB/Swiss-Prot Function: Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties

Gene Ontology (GO) - Molecular Function for AFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AFP: view
genes like me logo Genes that share phenotypes with AFP: view

Animal Models for AFP Gene

MGI Knock Outs for AFP:

Animal Model Products

CRISPR Products

miRNA for AFP Gene

miRTarBase miRNAs that target AFP

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AFP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AFP Gene

Localization for AFP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFP Gene


Subcellular locations from

Jensen Localization Image for AFP Gene COMPARTMENTS Subcellular localization image for AFP gene
Compartment Confidence
extracellular 5
cytoskeleton 3
nucleus 3
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 2
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with AFP: view

Pathways for AFP Gene

genes like me logo Genes that share pathways with AFP: view

Pathways by source for AFP Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for AFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001542 ovulation from ovarian follicle IEA --
GO:0006810 transport IEA --
GO:0019953 sexual reproduction --
GO:0042448 progesterone metabolic process IEA --
GO:0060395 SMAD protein signal transduction IEA --
genes like me logo Genes that share ontologies with AFP: view

Compounds for AFP Gene

(3) HMDB Compounds for AFP Gene

Compound Synonyms Cas Number PubMed IDs
  • (4Z,15Z)-Bilirubin IXa
  • Cu
  • Carbonyl nickel powder

(116) Novoseek inferred chemical compound relationships for AFP Gene

Compound -log(P) Hits PubMed IDs
oestriol 87.2 63
lipiodol 71.6 8
nitrazine 63 12
cisplatin 61 19
bleomycin 57.4 6
genes like me logo Genes that share compounds with AFP: view

Transcripts for AFP Gene

Unigene Clusters for AFP Gene

Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AFP

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFP Gene

No ASD Table

Relevant External Links for AFP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AFP Gene

mRNA expression in normal human tissues for AFP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AFP Gene

This gene is overexpressed in Liver (20.7) and Kidney - Cortex (8.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AFP Gene

SOURCE GeneReport for Unigene cluster for AFP Gene Hs.518808

mRNA Expression by UniProt/SwissProt for AFP Gene

Tissue specificity: Plasma. Synthesized by the fetal liver and yolk sac
genes like me logo Genes that share expressions with AFP: view

In Situ Assay Products

Orthologs for AFP Gene

This gene was present in the common ancestor of chordates.

Orthologs for AFP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AFP 35
  • 99.45 (n)
  • 99.18 (a)
AFP 36
  • 99 (a)
(Bos Taurus)
Mammalia AFP 35
  • 84.78 (n)
  • 78.33 (a)
AFP 36
  • 78 (a)
(Canis familiaris)
Mammalia AFP 35
  • 87.25 (n)
  • 84.07 (a)
AFP 36
  • 84 (a)
(Mus musculus)
Mammalia Afp 35
  • 75.54 (n)
  • 65.79 (a)
Afp 16
Afp 36
  • 64 (a)
(Monodelphis domestica)
Mammalia AFP 36
  • 66 (a)
(Rattus norvegicus)
Mammalia Afp 35
  • 74.44 (n)
  • 65.45 (a)
(Gallus gallus)
Aves -- 36
  • 41 (a)
AFP 35
  • 58.07 (n)
  • 44.2 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 35 (a)
-- 36
  • 39 (a)
Species with no ortholog for AFP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AFP Gene

Gene Tree for AFP (if available)
Gene Tree for AFP (if available)

Paralogs for AFP Gene

Paralogs for AFP Gene

Selected SIMAP similar genes for AFP Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AFP: view

Variants for AFP Gene

Sequence variations from dbSNP and Humsavar for AFP Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs4018 -- 73,435,596(+) GCATA(C/T)TAAAT upstream-variant-2KB
rs4024 -- 73,435,667(+) TGACA(A/G)CATAA upstream-variant-2KB
rs7790 - 73,453,821(+) TGAGG(C/G)TGTCA reference, missense
rs737241 -- 73,451,012(+) ATATC(A/C/G)GAAAG intron-variant
rs1894264 -- 73,450,660(+) TCGTC(A/G)GAGCT synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for AFP Gene

Variant ID Type Subtype PubMed ID
esv2727825 CNV Deletion 23290073
esv2326887 CNV Deletion 18987734
nsv293440 CNV Loss 16902084
esv992213 CNV Deletion 20482838
esv1032914 CNV Deletion 17803354

Relevant External Links for AFP Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFP Gene

Disorders for AFP Gene


  • Alpha-fetoprotein deficiency (AFPD) [MIM:615969]: A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development. {ECO:0000269 PubMed:15280901, ECO:0000269 PubMed:18854864}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Alpha-fetoprotein, hereditary persistence (HPAFP) [MIM:615970]: A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. {ECO:0000269 PubMed:7684942}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(94) Novoseek inferred disease relationships for AFP Gene

Disease -log(P) Hits PubMed IDs
hepatocellular carcinoma 94.3 196
yolk sac tumor 90.1 57
down syndrome 82.6 159
hepatoblastoma 80.4 51
cirrhosis 79.6 141

Relevant External Links for AFP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with AFP: view

Publications for AFP Gene

  1. A G-->A substitution in an HNF I binding site in the human alpha- fetoprotein gene is associated with hereditary persistence of alpha- fetoprotein (HPAFP). (PMID: 7684942) McVey J.H. … Tuddenham E.G.D. (Hum. Mol. Genet. 1993) 3 4 23
  2. Single nucleotide polymorphism in the promoter region of human alpha-fetoprotein (AFP) gene and its significance in hepatocellular carcinoma (HCC). (PMID: 17433605) Chen G.G. … Lai P.B. (Eur J Surg Oncol 2007) 3 23 48
  3. Alpha-fetoprotein gene polymorphisms and risk of HCC and cirrhosis. (PMID: 19968979) Suriapranata I.M. … Tai S. (Clin. Chim. Acta 2010) 3 23 48
  4. alpha-Fetoprotein as a modulator of the pro-inflammatory response of human keratinocytes. (PMID: 19785658) Potapovich A.I. … Korkina L.G. (Br. J. Pharmacol. 2009) 3 23
  5. Cytoplasmic alpha-fetoprotein functions as a co-repressor in RA-RAR signaling to promote the growth of human hepatoma Bel 7402 cells. (PMID: 19501957) Li M. … Li G. (Cancer Lett. 2009) 3 23

Products for AFP Gene

Sources for AFP Gene

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