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AFP Gene

protein-coding   GIFtS: 68
GCID: GC04P074308

Alpha-Fetoprotein


(Previous symbol: HPAFP)
  See AFP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
alpha-fetoprotein1 2     alpha-fetoglobulin2
HPAFP1 2 3     Alpha-1-fetoprotein3
FETA2     Alpha-fetoglobulin3
alpha-1-fetoprotein2     HP5

External Ids:    HGNC: 3171   Entrez Gene: 1742   Ensembl: ENSG000000810517   OMIM: 1041505   UniProtKB: P027713   

Export aliases for AFP gene to outside databases

Previous GC identifers: GC04P074291 GC04P074541 GC04P074703 GC04P074768 GC04P074666 GC04P070113 GC04P074298 GC04P074302


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 anencephaly, and teratoma. An important paralog of this gene is AFM.

UniProtKB/Swiss-Prot: FETA_HUMAN, P02771
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 Wiki entry for AFP (Alpha-fetoprotein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the AFP gene promoter:
         MEF-2A   CUTL1   Nkx2-5   Pax-4a   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAFP promoter sequence
   Search Chromatin IP Primers for AFP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AFP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q13.3   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13.3

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P074308:  view genomic region     (about GC identifiers)

Start:
74,296,855 bp from pter      End:
74,321,891 bp from pter
Size:
25,037 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FETA_HUMAN, P02771 (See protein sequence)
Recommended Name: Alpha-fetoprotein precursor  
Size: 609 amino acids; 68678 Da
Subunit: Dimeric and trimeric forms have been found in addition to the monomeric form
Developmental stage: Occurs in the plasma of fetuses more than 4 weeks old, reaches the highest levels during the
12th-16th week of gestation, and drops to trace amounts after birth. The serum level in adults is usually less
than 40 ng/ml. AFP occurs also at high levels in the plasma and ascitic fluid of adults with hepatoma
1 PDB 3D structure from and Proteopedia for AFP:
3MRK (3D)    
Secondary accessions: B2RBU3

Explore the universe of human proteins at neXtProt for AFP: NX_P02771

Explore proteomics data for AFP at MOPED

Post-translational modifications: 

  • Independent studies suggest heterogeneity of the N-terminal sequence of the mature protein and of the cleavage
    site of the signal sequence1
  • Sulfated1
  • Glycosylation2 at Asn251
  • Modification sites at PhosphoSitePlus

  • See AFP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001125.1  
    ENSEMBL proteins: 
     ENSP00000379138   ENSP00000226359  

    AFP Human Recombinant Protein Products:

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    Novus Biologicals AFP Proteins
    Novus Biologicals AFP Lysates
    Sino Biological Recombinant Protein for AFP
    Sino Biological Cell Lysate for AFP
    ProSpec Recombinant Protein for AFP
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for AFP 

     
    antibodies-online proteins for AFP (39 products) 

     
    antibodies-online peptides for AFP

    AFP Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of AFP
    R&D Systems Antibodies for AFP (alpha-Fetoprotein/AFP)
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    antibodies-online antibodies for AFP (540 products) 

    AFP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for AFP (alpha-Fetoprotein/AFP)         (see all)
    GenScript Custom Assay Services for AFP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for AFP 
    antibodies-online kits for AFP (63 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000264 ALB/AFP/VDB
     IPR014760 Serum_albumin_N
     IPR020858 Serum_albumin-like
     IPR001703 Alpha-fetoprotein
     IPR020857 Serum_albumin_CS

    Graphical View of Domain Structure for InterPro Entry P02771

    ProtoNet protein and cluster: P02771

    2 Blocks protein domains:
    IPB000264 Serum albumin family
    IPB001703 Alpha-fetoprotein signature


    UniProtKB/Swiss-Prot: FETA_HUMAN, P02771
    Similarity: Belongs to the ALB/AFP/VDB family
    Similarity: Contains 3 albumin domains


    Find genes that share domains with AFP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FETA_HUMAN, P02771
    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 entry for AFP:
    alpha-fetoprotein

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with AFP           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for AFP:
     Increased G1 DNA content  Increased HPV18 LCR reporter a 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Afp):
     behavior/neurological  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  reproductive system 
     tumorigenesis 

    Find genes that share phenotypes with AFP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Afp/AlbAfp/tm1.1Brts for AFP

       genOway: Develop your customized and physiologically relevant rodent model for AFP

    miRNA
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    miRTarBase miRNAs that target AFP:
    hsa-mir-106b-5p (MIRT020427)

    Block miRNA regulation of human, mouse, rat AFP using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate AFP:
    hsa-miR-1270 hsa-miR-942 hsa-miR-620 hsa-miR-1236
    SwitchGear 3'UTR luciferase reporter plasmidAFP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AFP

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    GenScript: all cDNA clones in your preferred vector: AFP (NM_001134)
    Sino Biological Human cDNA Clone for AFP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AFP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFP

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FETA_HUMAN, P02771: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton3
    nucleus3
    cytosol2
    endoplasmic reticulum2
    golgi apparatus2
    plasma membrane2
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with AFP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AFP About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    2Hippo signaling pathway
    Hippo signaling pathway
    3Glucocorticoid receptor regulatory network
    Glucocorticoid receptor regulatory network
    4FOXA2 and FOXA3 transcription factor networks
    FOXA2 and FOXA3 transcription factor networks
    5Direct p53 effectors
    Direct p53 effectors


    Find genes that share SuperPaths with AFP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for AFP
        Wnt / Hedgehog / Notch

    3 BioSystems Pathways for AFP
        Direct p53 effectors
    Glucocorticoid receptor regulatory network
    FOXA2 and FOXA3 transcription factor networks



    1 Kegg Pathway  (Kegg details for AFP):
        Hippo signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including AFP: 
              Embryonic Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AFP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for AFP (P027712, 3 ENSP000002263594) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGSM2O431472, 3MINT-64867 I2D: score=5 
    CCR5P516813, ENSP000002923034I2D: score=2 STRING: ENSP00000292303
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    STAMBPO956303, ENSP000003447424I2D: score=2 STRING: ENSP00000344742
    CASP3P425743I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001542ovulation from ovarian follicle IEA--
    GO:0006810transport IEA--
    GO:0019953sexual reproduction ----
    GO:0042448progesterone metabolic process IEA--
    GO:0060395SMAD protein signal transduction IEA--

    Find genes that share ontologies with AFP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AFP (FETA)

    3 HMDB Compounds for AFP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Bilirubin(4Z,15Z)-Bilirubin IXa (see all 17)635-65-4--
    CopperCu (see all 2)7440-50-8--
    NickelCarbonyl nickel powder (see all 19)7440-02-0--

    Selected Novoseek inferred chemical compound relationships for AFP gene (see all 116)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oestriol 87.2 65 9795869 (2), 7479589 (1), 8904471 (1), 10589060 (1) (see all 62)
    lipiodol 71.6 10 11895553 (2), 16258102 (1), 16333675 (1), 7511068 (1) (see all 7)
    nitrazine 63 12 1695510 (5), 8902437 (4), 7586524 (3)
    cisplatin 61 25 18260360 (3), 1708922 (1), 1377669 (1), 7506867 (1) (see all 17)
    bleomycin 57.4 7 8863237 (1), 18260360 (1), 1384296 (1), 1382827 (1) (see all 6)
    etoposide 53.8 15 18260360 (2), 7506867 (1), 8863237 (1), 1382827 (1) (see all 10)
    smancs 45.8 17 9512693 (4)
    ntbc 44.7 2 17008115 (2)
    adriamycin 41 15 1380075 (2), 1711147 (1), 1691730 (1), 8667626 (1) (see all 5)
    cis-diaminodichloroplatinum 38.4 2 8391290 (1)



    Find genes that share compounds with AFP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AFP gene: 
    NM_001134.2  

    Unigene Cluster for AFP:

    Alpha-fetoprotein
    Hs.518808  [show with all ESTs]
    Unigene Representative Sequence: BC027881
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513720 ENST00000515675(uc003hgy.1) ENST00000395792(uc003hgz.1 uc011cbg.1)
    ENST00000226359 ENST00000508838 ENST00000514279 ENST00000506820
    miRNA
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    Block miRNA regulation of human, mouse, rat AFP using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate AFP:
    hsa-miR-1270 hsa-miR-942 hsa-miR-620 hsa-miR-1236
    SwitchGear 3'UTR luciferase reporter plasmidAFP 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: AFP (NM_001134)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AFP
      QuantiTect SYBR Green Assays in human, mouse, rat AFP
      QuantiFast Probe-based Assays in human, mouse, rat AFP

    Additional mRNA sequence: 

    AF484525.1 AF484526.1 AK297669.1 AK297674.1 AK314817.1 BC027881.1 V01514.1 

    21 DOTS entries:

    DT.95165242  DT.100871902  DT.449398  DT.100871898  DT.121276106  DT.100871901  DT.100871907  DT.121276084 
    DT.100871914  DT.92458729  DT.95165257  DT.121276107  DT.75179602  DT.92458727  DT.95165243  DT.95165265 
    DT.100651994  DT.100871911  DT.121276061  DT.92458758  DT.95165245 

    Selected AceView cDNA sequences (see all 535):

    AU076699 AU121380 AU120149 AU120529 AU120462 CR621004 AI061605 AA334542 
    BC027881 AA334278 AI365338 AU121108 BX346088 AL531887 CR616557 AU121361 
    AU120323 AU120294 AF484526 AU120955 AU120356 AI990611 AL557918 H94548 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AFP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATTCAAG
    AFP Expression
    About this image


    AFP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 29) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 21 entries
             Hepatoblasts Liver Bud
             Liver Lobule
             Hepatic progenitor cells
             Human Hepatocyte (HH)   
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 5 entries
             Visceral Endoderm Cells Visceral Endoderm
     
     Yolk Sac (Extraembryonic Tissues)    fully expand to see all 5 entries
             Visceral Endoderm Cells Visceral Endoderm
     
     Endoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             Definitive Endoderm Cells Definitive Endoderm
             Endoderm-like cells
     
     Epithelial Cells
             Hepatic Endoderm Cells Ventral Foregut Endoderm
    AFP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AFP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518808

    UniProtKB/Swiss-Prot: FETA_HUMAN, P02771
    Tissue specificity: Plasma. Synthesized by the fetal liver and yolk sac

        Pathway & Disease-focused RT2 Profiler PCR Array including AFP: 
              Embryonic Stem Cells in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat AFP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AFP gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Afp1 , 5 alpha fetoprotein1, 5 75.54(n)1
    65.79(a)1
      5 (44.77 cM)5
    115761  NM_007423.41  NP_031449.31 
     904907145 
    chicken
    (Gallus gallus)
    Aves AFP1 alpha-fetoprotein 58.07(n)
    44.2(a)
      422652  XM_003641200.2  XP_003641248.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    39(a)
    35(a)
    many ↔ many
    many ↔ many
    GL343253.1(493847-512660)
    GL343253.1(478702-490825)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AFP gene
    AFM2  ALB2  GC2  
    2 SIMAP similar genes for AFP using alignment to 2 protein entries:     FETA_HUMAN (see all proteins):
    AFM    ALB

    Find genes that share paralogs with AFP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AFP (see all 462)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219126851,2
    Cpathogenic174186078(+) CTTTGG/AGCTGC 2 /W /* stg11Minor allele frequency- A:0.00EU 1317
    rs105947181,2
    C--70117195(+) ATATG-/TATATAT 1 -- int10--------
    rs58593731,2
    C--70117196(+) TATAT-/ATGTATG 1 -- int12Minor allele frequency- AT:0.00NA CSA 4
    rs119411001,2
    A,H--70123874(+) TTCTCA/GTGGAG 1 -- int10--------
    rs1917022251,2
    --74178004(+) CTCTAC/TATTAA 1 -- us2k10--------
    rs1831938781,2
    C--74178046(+) ATTCAC/TCAAAT 1 -- us2k10--------
    rs1472657971,2
    --74178077(+) AACCAA/GACACT 1 -- us2k10--------
    rs1396838801,2
    --74178182(+) TGACTA/GTTGCT 1 -- us2k10--------
    rs1855595131,2
    --74178281(+) TAAATA/GCTATC 1 -- us2k10--------
    rs1494988371,2
    C--74178292(+) CTGGAA/GTCCAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AFP (74296855 - 74321891 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AFP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727825CNV Deletion23290073
    esv992213CNV Deletion20482838
    esv2326887CNV Deletion18987734
    esv1032914CNV Deletion17803354
    nsv293440CNV Loss16902084

    Human Gene Mutation Database (HGMD): AFP
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing AFP
    DNA2.0 Custom Variant and Variant Library Synthesis for AFP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 104150    OMIM disorders: --

    Selected diseases for AFP (see all 58):    
    About MalaCards
    anencephaly    teratoma    cutis marmorata telangiectatica congenita    gliomatosis peritonei
    liver sarcoma    pineal region teratoma    endodermal sinus tumor    abdominal wall defect
    spina bifida aperta    germ cell cancer    extragonadal germ cell tumor    malignant sertoli cell tumor
    mixed germ cell tumor    growing teratoma syndrome    testicular cancer    polyembryoma
    hereditary persistence of alpha-fetoprotein    testicular yolk sac tumor    edwards syndrome    congenital deficiency in alpha-fetoprotein

    Selected diseases from the University of Copenhagen DISEASES database for AFP (see all 33):
    Hepatocellular carcinoma     Liver cirrhosis     Down syndrome     Endodermal sinus tumor
    Teratoma     Spina bifida     Hepatoblastoma     Hepatitis B
    Testicular cancer     Hepatitis     Edwards syndrome     Seminoma
    Carcinoma     Embryonal carcinoma     Portal vein thrombosis     Oligohydramnios
    Gastroschisis     Cholangiocarcinoma     Patau syndrome     Cystic lymphangioma

    Find genes that share disorders with AFP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for AFP gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatocellular carcinoma 94.3 660 17250819 (8), 12834318 (7), 7686840 (5), 9754243 (5) (see all 99)
    yolk sac tumor 90.1 67 15924879 (3), 17197899 (3), 1691611 (3), 9094031 (2) (see all 46)
    down syndrome 82.6 223 9639764 (5), 8649703 (5), 19777489 (5), 11679535 (4) (see all 99)
    hepatoblastoma 80.4 65 9094031 (4), 10626849 (4), 18525464 (3), 17535089 (2) (see all 36)
    cirrhosis 79.6 177 19968979 (6), 15004489 (3), 9166938 (3), 17214153 (3) (see all 99)
    liver cirrhosis 79.4 102 10355508 (5), 1717126 (5), 17288606 (3), 1709347 (2) (see all 75)
    tumors 79 1405 8646674 (6), 9118030 (4), 12209753 (4), 9422080 (4) (see all 99)
    teratoma 76.7 48 10386812 (3), 19493258 (2), 9258169 (2), 11745252 (2) (see all 34)
    carcinoma embryonal 72.5 15 10386812 (3), 8952646 (2), 9784334 (1), 19461507 (1) (see all 12)
    chronic liver disease 71.5 59 11149026 (5), 7690873 (2), 10365905 (2), 16273636 (2) (see all 42)

    Genetic Association Database (GAD): AFP
    Human Genome Epidemiology (HuGE) Navigator: AFP (13 documents)

    Export disorders for AFP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AFP gene, integrated from 10 sources (see all 1820):
    (articles sorted by number of sources associating them with AFP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Single nucleotide polymorphism in the promoter region of human alpha-fetoprotein (AFP) gene and its significance in hepatocellular carcinoma (HCC). (PubMed id 17433605)1, 4, 9 Chen G.G....Lai P.B. (Eur J Surg Oncol 2007)
    2. Alpha-fetoprotein gene polymorphisms and risk of HCC and cirrhosis. (PubMed id 19968979)1, 4, 9 Suriapranata I.M....Tai S. ( international journal of clinical chemistry 2010)
    3. 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). (PubMed id 7684942)1, 2, 9 McVey J.H.... Tuddenham E.G.D. (Hum. Mol. Genet. 1993)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Human alpha-fetoprotein primary structure: a mass spectrometric study. (PubMed id 1709810)1, 2 Pucci P.... Terrana B. (Biochemistry 1991)
    6. Structure, polymorphism, and novel repeated DNA elements revealed by a complete sequence of the human alpha-fetoprotein gene. (PubMed id 2436661)1, 2 Gibbs P.E.M.... Dugaiczyk A. (Biochemistry 1987)
    7. The human alpha-fetoprotein gene. Sequence organization and the 5' flanking region. (PubMed id 2580830)1, 2 Sakai M....Tamaoki T. (J. Biol. Chem. 1985)
    8. Tyrosine sulfation of proteins from the human hepatoma cell line HepG2. (PubMed id 2414772)1, 2 Liu M.C.... Lipmann F. (Proc. Natl. Acad. Sci. U.S.A. 1985)
    9. Primary structures of human alpha-fetoprotein and its mRNA. (PubMed id 6192439)1, 2 Morinaga T.... Tamaoki T. (Proc. Natl. Acad. Sci. U.S.A. 1983)
    10. Structure and evolution of human alpha-fetoprotein deduced from partial sequence of cloned cDNA. (PubMed id 6187626)1, 2 Beattie W.G. and Dugaiczyk A. (Gene 1982)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 174 HGNC: 317 AceView: AFP Ensembl:ENSG00000081051 euGenes: HUgn174
    ECgene: AFP Kegg: 174 H-InvDB: AFP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for AFP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AFP Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Alpha-fetoprotein

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AFP gene:
    Search GeneIP for patents involving AFP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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