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Aliases for AFP Gene

Aliases for AFP Gene

  • Alpha Fetoprotein 2 3 5
  • Alpha-1-Fetoprotein 3 4
  • Alpha-Fetoglobulin 3 4
  • HPAFP 3 4
  • Alpha-Fetoprotein 3
  • AFPD 3
  • FETA 3

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 Alpha-Fetoprotein, Hereditary Persistence Of. Among its related pathways are Glucocorticoid receptor regulatory network and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. An important paralog of this gene is ALB.

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

Additional gene information for AFP Gene

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

Genomics for AFP Gene

Regulatory Elements for AFP Gene

Enhancers for AFP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H073449 1.1 Ensembl ENCODE 20.5 +29.6 29573 5.5 PKNOX1 ATF1 NFRKB ZFP64 GATA2 SCRT2 MIXL1 PAF1 ZNF362 REST AFP AFM
GH04H073431 1 ENCODE 12.8 +9.8 9803 2.7 FOXA2 ATF1 MLX ARID4B YY1 TCF12 GATA2 ATF7 PAF1 MXD4 AFP AFM
GH04H073344 0.9 ENCODE 11.6 -77.5 -77505 2 ELF3 FOXA2 ATF1 DMAP1 DNMT3B RAD21 RARA YY1 ATF7 CREM AFP ENSG00000221639 ALB ENSG00000249976
GH04H073520 0.7 ENCODE 10.5 +97.8 97791 0.9 FEZF1 ZEB2 ZBTB8A EBF1 ZNF398 BATF ZIC2 GLIS2 ZNF366 GLIS1 AFP LINC02499 ENSG00000249970
GH04H073274 0.7 ENCODE 6.2 -148.0 -147991 1.8 FOXA2 MAX ZNF384 ZNF644 RAD21 YY1 HNF4G ZNF362 NFIA REST AFP ENSG00000221639 GC04P073285
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AFP on UCSC Golden Path with GeneCards custom track

Genomic Locations for AFP Gene

Genomic Locations for AFP Gene
33,071 bases
Plus strand

Genomic View for AFP Gene

Genes around AFP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 posLast=251251
  • 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 & Families for AFP Gene

Gene Families for AFP Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for AFP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for AFP Gene

Molecular function for AFP Gene

GENATLAS Biochemistry:
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.

Phenotypes From GWAS Catalog for AFP Gene

Gene Ontology (GO) - Molecular Function for AFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26808496
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

Human Phenotype Ontology for AFP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AFP Gene

MGI Knock Outs for AFP:

miRNA for AFP Gene

miRTarBase miRNAs that target AFP

Clone Products

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

Localization for AFP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFP Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFP gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 2
cytoskeleton 2
nucleus 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with AFP: view

Pathways & Interactions for AFP Gene

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

Pathways by source for AFP Gene

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 IEA --
GO:0042448 progesterone metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with AFP: view

No data available for SIGNOR curated interactions for AFP Gene

Drugs & Compounds for AFP Gene

(72) Drugs for AFP Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 188
Chorionic Gonadotropin Pharma 205
Hematinics Pharma 1743
Liver Extracts Pharma 4238
Vaccines Pharma 6743

(50) Additional Compounds for AFP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AFP: view

Transcripts for AFP Gene

Unigene Clusters for AFP Gene

Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x20.7) and Kidney - Cortex (x8.0).

Protein differential expression in normal tissues from HIPED for AFP Gene

This gene is overexpressed in Fetal gut (18.3), Fetal heart (16.3), Fetal Liver (7.9), Bone marrow mesenchymal stem cell (7.0), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AFP Gene

NURSA nuclear receptor signaling pathways regulating expression of AFP Gene:


SOURCE GeneReport for Unigene cluster for AFP Gene:


mRNA Expression by UniProt/SwissProt for AFP Gene:

Tissue specificity: Plasma. Synthesized by the fetal liver and yolk sac.

Evidence on tissue expression from TISSUES for AFP Gene

  • Heart(5)
  • Liver(4.9)
  • Nervous system(4.6)
  • Lung(4.5)
  • Blood(3)
  • Spleen(2.7)
  • Kidney(2.5)
  • Lymph node(2.3)
  • Gall bladder(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AFP Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeleton
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with AFP: view

No data available for Protein tissue co-expression partners for AFP Gene

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 33 34
  • 99.45 (n)
(Canis familiaris)
Mammalia AFP 33 34
  • 87.25 (n)
(Bos Taurus)
Mammalia AFP 33 34
  • 84.78 (n)
(Mus musculus)
Mammalia Afp 33 16 34
  • 75.54 (n)
(Rattus norvegicus)
Mammalia Afp 33
  • 74.44 (n)
(Monodelphis domestica)
Mammalia AFP 34
  • 66 (a)
(Gallus gallus)
Aves AFP 33
  • 58.07 (n)
-- 34
  • 41 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 39 (a)
-- 34
  • 35 (a)
Species where no ortholog for AFP was found in the sources mined by GeneCards:
  • 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

(2) 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
rs121912685 Pathogenic 73,442,356(+) CTTTG(A/G)GCTGC reference, stop-gained
rs387906580 Pathogenic 73,447,501(+) ACACT(-/CT)GTCAA reference, frameshift-variant
rs587776861 other 73,436,100(+) TATTG(A/G)CAAAT upstream-variant-2KB
rs1000230878 -- 73,435,819(+) GCCTG(G/T)CATAT upstream-variant-2KB
rs10002756 -- 73,454,177(+) ATTGA(C/T)GGTAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv955691 CNV deletion 24416366
nsv293440 CNV deletion 16902084
nsv1154041 CNV deletion 26484159
nsv1135174 CNV deletion 24896259
nsv1121291 CNV deletion 24896259
nsv1119997 CNV deletion 24896259
esv992213 CNV deletion 20482838
esv2727825 CNV deletion 23290073
esv2326887 CNV deletion 18987734
esv1032914 CNV deletion 17803354

Variation tolerance for AFP Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.26; 62.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AFP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for AFP Gene

MalaCards: The human disease database

(153) MalaCards diseases for AFP Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-fetoprotein deficiency
  • congenital deficiency in alpha-fetoprotein
alpha-fetoprotein, hereditary persistence of
  • hereditary persistence of alpha-fetoprotein
endodermal sinus tumor
  • hepatoid yolk sac tumour
liver cirrhosis
  • cirrhosis
- elite association - COSMIC cancer census association via MalaCards
Search AFP in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for AFP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AFP: view

No data available for Genatlas for AFP Gene

Publications for AFP Gene

  1. Alpha-fetoprotein gene polymorphisms and risk of HCC and cirrhosis. (PMID: 19968979) Suriapranata IM … Tai S (Clinica chimica acta; international journal of clinical chemistry 2010) 3 22 45 60
  2. Single nucleotide polymorphism in the promoter region of human alpha-fetoprotein (AFP) gene and its significance in hepatocellular carcinoma (HCC). (PMID: 17433605) Chen GG … Lai PB (European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2007) 3 22 45 60
  3. alpha-Fetoprotein as a modulator of the pro-inflammatory response of human keratinocytes. (PMID: 19785658) Potapovich AI … Korkina LG (British journal of pharmacology 2009) 3 22 60
  4. 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 letters 2009) 3 22 60
  5. Is elevated maternal serum alpha-fetoprotein in the second trimester of pregnancy associated with increased preterm birth risk? A systematic review and meta-analysis. (PMID: 19457604) Yuan W … Bernal AL (European journal of obstetrics, gynecology, and reproductive biology 2009) 3 22 60

Products for AFP Gene

Sources for AFP Gene

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