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AFP Gene(Protein Coding)

Alpha Fetoprotein

GCID:
GC04P073431
GIFtS:
62
Genes Participants
UDN Logo

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

  • 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 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and FOXA2 and FOXA3 transcription factor networks. 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

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

Genomics for AFP Gene

Products:

  1. Regulatory Element

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
GH04G073449 1.2 Ensembl ENCODE 20.5 +29.6 29573 5.5 PKNOX1 ATF1 ZFP64 SIN3A FEZF1 GATA2 FOS ZMIZ1 PAF1 REST AFP AFM
GH04G073431 1 ENCODE 12.8 +9.8 9803 2.7 HNRNPUL1 FOXA2 ATF1 MLX ARID4B YY1 TCF12 GATA2 PAF1 MXD4 AFP AFM
GH04G073344 0.9 ENCODE 11.6 -77.5 -77505 2.0 ELF3 FOXA2 ATF1 DMAP1 DNMT3B RAD21 RARA YY1 GATA4 CREM AFP ENSG00000221639 ALB ENSG00000249976
GH04G073520 0.7 ENCODE 10.5 +97.8 97791 0.9 CTCF FEZF1 RBBP5 EBF1 ZIC2 GLIS2 ZNF366 PATZ1 IKZF2 MAFK AFP LINC02499 ENSG00000249970
GH04G073274 0.7 ENCODE 6.2 -148.0 -147991 1.8 FOXA2 MAX ZNF384 ZNF644 RAD21 YY1 ZNF316 NCOR1 HNF4G ZNF362 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

Transcription factor binding sites by QIAGEN in the AFP gene promoter:

Genomic Location for AFP Gene

Chromosome:
4
Start:
73,423,104 bp from pter
End:
73,456,174 bp from pter
Size:
33,071 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 Structure • Gene Density

RefSeq DNA sequence for AFP Gene

Proteins for AFP Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for AFP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 & Families for AFP Gene

Protein Domains for AFP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFP Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for AFP Gene

Function for AFP Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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: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:

Animal Model Products

CRISPR Products

miRNA for AFP Gene

miRTarBase miRNAs that target AFP

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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
cytosol 5
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
lysosome 1

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

1 Cell Signaling Technology pathway for AFP Gene
1 KEGG pathway 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 181
Chorionic Gonadotropin Pharma 196
Hematinics Pharma 1684
Liver Extracts Pharma 4067
Vaccines Pharma 6611

(55) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AFP Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(535) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AFP Gene

Alpha-fetoprotein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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
AFP
ECgene alternative splicing isoforms for
AFP

Expression for AFP Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFP Gene

mRNA expression in normal human tissues for AFP Gene
mRNA expression by BioGPS for AFP GenemRNA expression by GTEx 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:

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(4.6)
  • 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
Systems:
  • integumentary
  • nervous
  • skeleton
Organs:
General:
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with AFP: view

Primer Products

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 34 35
  • 99.45 (n)
dog
(Canis familiaris)
 Mammalia AFP 34 35
  • 87.25 (n)
cow
(Bos Taurus)
 Mammalia AFP 34 35
  • 84.78 (n)
mouse
(Mus musculus)
 Mammalia Afp 34 16 35
  • 75.54 (n)
rat
(Rattus norvegicus)
 Mammalia Afp 34
  • 74.44 (n)
oppossum
(Monodelphis domestica)
 Mammalia AFP 35
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AFP 34
  • 58.07 (n)
-- 35
  • 41 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 39 (a)
 ManyToMany
-- 35
  • 35 (a)
 ManyToMany
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

ENSEMBL:
Gene Tree for AFP (if available)
TreeFam:
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
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)

Relevant External Links for AFP Gene

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

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

Disorders for AFP Gene

MalaCards: The human disease database

(157) MalaCards diseases for AFP Gene - From: 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
testicular cancer
  • childhood neoplasm of the testis
teratoma
  • teratomas
endodermal sinus tumor
  • hepatoid yolk sac tumour
- 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.

Relevant External Links for AFP

Genetic Association Database (GAD)
AFP
Human Genome Epidemiology (HuGE) Navigator
AFP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFP
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 I.M. … Tai S. (Clin. Chim. Acta 2010) 3 22 46 64
  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 22 46 64
  3. 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 22 64
  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 Lett. 2009) 3 22 64
  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 A.L. (Eur. J. Obstet. Gynecol. Reprod. Biol. 2009) 3 22 64

Products for AFP Gene

Sources for AFP Gene

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