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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

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 hereditary persistence of alpha-fetoprotein and congenital deficiency in alpha-fetoprotein. Among its related pathways are Hippo signaling pathway and Glucocorticoid receptor regulatory network. 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

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

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:
    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

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 Asn 251
  • 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

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 :
  • Contains 3 albumin domains.
  • Belongs to the ALB/AFP/VDB family.
Domain:
  • Contains 3 albumin domains.
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

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

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

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:0001889 liver development IEA --
GO:0006810 transport IEA --
GO:0010033 response to organic substance IEA --
GO:0019953 sexual reproduction --
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

(58) Drugs for AFP Gene - From: NovoSeek, HMDB, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetaminophen Approved Pharma 799
Azathioprine Approved Pharma 145
Bleomycin Approved Pharma 142
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1812
Chloramphenicol Approved Pharma 6

(61) Additional Compounds for AFP Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Nickel
  • Carbonyl nickel powder
  • Malleable nickel
  • NI
  • Nichel
  • Nickel 200
7440-02-0
2-Acetylaminofluorene
5-Fluorocytosine
5fluorouracil
Actinomycin D
genes like me logo Genes that share compounds with AFP: view

Transcripts for AFP Gene

Unigene Clusters for AFP Gene

Alpha-fetoprotein:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

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

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 (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, MOPED, and MaxQB for AFP Gene



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
genes like me logo Genes that share expression patterns with AFP: view

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia AFP 35
  • 84.78 (n)
  • 78.33 (a)
AFP 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFP 35
  • 87.25 (n)
  • 84.07 (a)
AFP 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Afp 35
  • 75.54 (n)
  • 65.79 (a)
Afp 16
Afp 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AFP 35
  • 99.45 (n)
  • 99.18 (a)
AFP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Afp 35
  • 74.44 (n)
  • 65.45 (a)
oppossum
(Monodelphis domestica)
Mammalia AFP 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves AFP 35
  • 58.07 (n)
  • 44.2 (a)
-- 36
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 35 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
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

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 MAF
VAR_012049 -
VAR_033928 -

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

Variation tolerance for AFP Gene

Residual Variation Intolerance Score: 55.01% 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

HapMap Linkage Disequilibrium report
AFP
Human Gene Mutation Database (HGMD)
AFP

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

Disorders for AFP Gene

MalaCards: The human disease database

(156) MalaCards diseases for AFP Gene - From: OMIM, ClinVar, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
congenital deficiency in alpha-fetoprotein
alpha-fetoprotein deficiency
  • alpha-fetoprotein
testicular cancer
  • testicular tumor
nonseminomatous germ cell tumor
  • non-seminomatous germ-cell tumors
- elite association
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) 23 67
  2. Prediction of adverse pregnancy outcomes by combinations of first and second trimester biochemistry markers used in the routine prenatal screening of Down syndrome. (PMID: 20440736) Huang T. … Okun N. (Prenat. Diagn. 2010) 23 67
  3. Serum alpha-fetoprotein measurement in predicting clinical outcome related to autologous cytokine-induced killer cells in patients with hepatocellular carcinoma undergone minimally invasive therapy. (PMID: 20507732) Pan C.C. … Wu P.H. (Chin J Cancer 2010) 23 67
  4. The development and implementation of an obstetric cell salvage service. (PMID: 20514958) McDonnell N.J. … Paech M.J. (Anaesth Intensive Care 2010) 23 67
  5. New advances in clinical biomarkers in testis cancer. (PMID: 20036893) Favilla V. … Morgia G. (Front Biosci (Elite Ed) 2010) 23 67

Products for AFP Gene

Sources for AFP Gene

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