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 obviou... See more...

Aliases for AFP Gene

Aliases for AFP Gene

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

External Ids for AFP Gene

Previous HGNC Symbols for AFP Gene

  • HPAFP

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 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]

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 FOXA2 and FOXA3 transcription factor networks and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. An important paralog of this gene is ALB.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AFP Gene

Genomics for AFP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AFP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J073431 Enhancer 0.9 ENCODE 613 +1.8 1769 2.7 GATAD2A CTCF ATF7 REST TFE3 SOX13 IKZF1 NFKBIZ RCOR2 RBFOX2 AFP HSALNG0035147 AFM
GH04J073436 Promoter 0.9 EPDnew 600.4 +5.1 5067 0.1 GATAD2A RBFOX2 RXRB CEBPA KMT2B SOX13 CREM FOXP1 ZNF792 SAP130 AFP HSALNG0035147 AFM
GH04J073449 Enhancer 1 Ensembl ENCODE 20.5 +21.5 21539 5.5 TEAD4 ZIC2 RBFOX2 POLR2A REST ZNF740 DPF2 SCRT2 ZBTB44 MGA AFP AFM HSALNG0035147
GH04J073404 Promoter 1 EPDnew 11.9 -26.9 -26870 0.1 REST TFE3 RBFOX2 RXRB IRF2 SP1 GABPA CEBPA KMT2B SOX13 ALB AFP HSALNG0035140 HSALNG0035145
GH04J073344 Enhancer 0.9 ENCODE 11.6 -85.5 -85538 2 GATAD2A ATF7 REST NFKBIZ RCOR2 RBFOX2 RXRB IRF2 BRD4 SP1 AFP ENSG00000221639 ALB ENSG00000249976 NONHSAG038169.2 lnc-ANKRD17-1 ANKRD17 ENSG00000250220 LOC102724832
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AFP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AFP

Top Transcription factor binding sites by QIAGEN in the AFP gene promoter:
  • C/EBPalpha
  • CUTL1
  • MEF-2A
  • Nkx2-5
  • Pax-4a

Genomic Locations for AFP Gene

Genomic Locations for AFP Gene
chr4:73,431,138-73,456,174
(GRCh38/hg38)
Size:
25,037 bases
Orientation:
Plus strand
chr4:74,296,855-74,321,891
(GRCh37/hg19)
Size:
25,037 bases
Orientation:
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:
    P02771-FETA_HUMAN
    Recommended name:
    Alpha-fetoprotein
    Protein Accession:
    P02771
    Secondary Accessions:
    • B2RBU3

    Protein attributes for AFP Gene

    Size:
    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 Asn251
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FETA_HUMAN (41)

Other Protein References for AFP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Protein Domains for AFP Gene

InterPro:
Blocks:
  • Serum albumin family
  • Alpha-fetoprotein signature
ProtoNet:

Suggested Antigen Peptide Sequences for AFP Gene

GenScript: Design optimal peptide antigens:
  • Alpha-fetoglobulin (FETA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02771

UniProtKB/Swiss-Prot:

FETA_HUMAN :
  • Belongs to the ALB/AFP/VDB family.
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

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.
GENATLAS Biochemistry:
alpha-fetoprotein

Phenotypes From GWAS Catalog for AFP Gene

Gene Ontology (GO) - Molecular Function for AFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005504 fatty acid binding IBA 21873635
GO:0005515 protein binding IPI 26808496
GO:0008270 zinc ion binding IBA 21873635
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:
  • Afp Afp<tm1Ibmm>
  • Afp Afp<tm2Ibmm>
  • Afp/Alb Afp/Alb<tm1.1Brts>
  • Afp Afp<tm1(Cebpa)Ndw>

CRISPR Products

miRNA for AFP Gene

miRTarBase miRNAs that target AFP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFP

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

Secreted.

Subcellular locations from

COMPARTMENTS
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 4
cytosol 4
cytoskeleton 3
nucleus 3
plasma membrane 2
mitochondrion 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

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,IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
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

1 Cell Signaling Technology pathway for AFP Gene

SIGNOR curated interactions for AFP Gene

Is activated by:
Is inactivated by:

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 IBA 21873635
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

Drugs & Compounds for AFP Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma 249
Dioxybenzone Approved Pharma Carrier, binder 0
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1669
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1944
Phylloquinone Approved, Investigational Pharma 328

(48) 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

mRNA/cDNA for AFP Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFP

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

No ASD Table

Relevant External Links for AFP Gene

GeneLoc Exon Structure for
AFP

Expression for AFP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for AFP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AFP

SOURCE GeneReport for Unigene cluster for AFP Gene:

Hs.518808

mRNA Expression by UniProt/SwissProt for AFP Gene:

P02771-FETA_HUMAN
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(4.7)
  • Lung(4.5)
  • Blood(3.6)
  • Kidney(3.3)
  • Spleen(3.2)
  • Lymph node(2.9)
  • Intestine(2.9)
  • Gall bladder(2.8)
  • Muscle(2.8)
  • Skin(2.8)
  • Stomach(2.7)
  • Urine(2.6)
  • Pancreas(2.6)
  • Adrenal gland(2.6)
  • Thyroid gland(2.5)
  • Bone marrow(2.4)
  • Bone(2.2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia AFP 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AFP 30 31
  • 87.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AFP 30 31
  • 84.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Afp 30 17 31
  • 75.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Afp 30
  • 74.44 (n)
Oppossum
(Monodelphis domestica)
Mammalia AFP 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AFP 30
  • 58.07 (n)
-- 31
  • 41 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 39 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
Species where no ortholog for AFP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for AFP (if available)
TreeFam:
Gene Tree for AFP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AFP: view image

Paralogs for AFP Gene

Paralogs for AFP Gene

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

  • FETA_HUMAN
  • J3KMX3_HUMAN
genes like me logo Genes that share paralogs with AFP: view

Variants for AFP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AFP Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
733977 Likely Benign: not provided 73,450,714(+) A/G SYNONYMOUS_VARIANT
738681 Likely Benign: not provided 73,444,988(+) C/T INTRON_VARIANT
740705 Likely Benign: not provided 73,440,730(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
742527 Benign: not provided 73,440,656(+) G/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
771142 Benign: not provided 73,447,476(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AFP Gene

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

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

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)

Additional Variant Information for AFP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AFP Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search AFP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FETA_HUMAN
  • 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.

Additional Disease Information for AFP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  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 23 41
  3. The human alpha-fetoprotein gene. Sequence organization and the 5' flanking region. (PMID: 2580830) Sakai M … Tamaoki T (The Journal of biological chemistry 1985) 2 3 4
  4. 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 23
  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 23

Products for AFP Gene

Sources for AFP Gene