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FLASH GENE
Symbol AFP contributors: mct - updated : 12-07-2015
HGNC name alpha-fetoprotein
HGNC id 317
Corresponding disease
AFP congenital alpha-fetoprotein deficiency
Location 4q13.3      Physical location : 74.301.932 - 74.321.492
Synonym name
  • alpha-fetoglobulin
  • fetal counterpart of serum albumin
  • hereditary persistence of alpha-fetoprotein
  • Synonym symbol(s) FETA, HPAFP
    DNA
    TYPE functioning gene
    STRUCTURE 19.56 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    Binding site   enhancer
    text structure
  • two enhancers E2 and E3 upstream of the gene
  • two alternative promoters
  • seven C/EBPA-binding sites
  • a large cis-acting LCR
  • 44 bp enhancer in first intron
  • cognate ZBTB20 site in AFP promoter which mediates the postnatal repression of AFP gene in the liver
  • MAPPING cloned Y linked   status confirmed
    Physical map
    LOC391669 4 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) FLJ38991 4q21.1 hypothetical protein FLJ38991 ANKRD17 4q13.3 ankyrin repeat domain 17 HMGA1L2 4q21.1 high mobility group AT-hook 1-like 2 ALB 4q11-q13 albumin AFP 4q11-q13 alpha-fetoprotein AFM 4q11-q13 afamin RASSF6 4q21.21 Ras association (RalGDS/AF-6) domain family 6 IL8 4q13-q21 interleukin 8 CXCL6 4q21 chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) PF4V1 4q13-q21 platelet factor 4 variant 1 CXCL1 4q21 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) CXCL1P 4q21.21 chemokine (C-X-C motif) ligand 1 pseudogene PF4 4q13-q21 platelet factor 4 (chemokine (C-X-C motif) ligand 4) PPBP 4q12-q13 pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) CXCL5 4q13-q21 chemokine (C-X-C motif) ligand 5 CXCL3 4q21 chemokine (C-X-C motif) ligand 3 SPBPBP 4q21.21 DNA-binding protein amplifying expression of surfactant protein B CXCL2 4q21 chemokine (C-X-C motif) ligand 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2032 - 609 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Lymphoid/Immunespleen   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text hepatocytes, lowly in gut/reactivated during liver regeneration liver at the early, yolk sac, visceral endoderm, developing mesonephros
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three albumin domains
  • conjugated GlycoP
    mono polymer monomer , dimer
    HOMOLOGY
    interspecies homolog to dog AFP (84.07 pc)
    Homologene
    FAMILY ALB/AFP/VDB family
    CATEGORY immunity/defense , protooncogene
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • major plasma protein produced by the yolk sac and the liver during fetal life
  • involved in targeting positive regulation of the apoptotic pathway dysfunction in cancer cells inhibiting the apoptosis protein function inhibitor, leading to triggering of apoptosis machinery
  • oncoembryonic protein inducing dose-dependent targeting apoptosis in tumor cells, accompanied by cytochrome c release and caspase 3 activation
  • may modulate inflammatory events in human skin
  • can induce apoptosis or impair monocyte-derived dendritic cell (MDDC) function
  • plays a signal molecule-like role in the regulation of hepatocellular carcinoma growth
  • antagonizes X-linked inhibitor of apoptosis protein XIAP anticaspase activity and disrupts XIAP-caspase interaction
  • its level in the plasma is apparently related to monocyte activation
  • may be involved in multiple cell growth regulating, differentiating, and immunosuppressive activities
  • AFP functions as a regulator in the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • copper
  • nickel
  • fatty acids
  • protein
  • LHX4 may act as a potential tumor suppressor in hepatocarcinogenesis (LHX4 expression increased in adult liver in a manner that parallel AFP repression), suggesting that targeting LHX4 to downregulate AFP might have therapeutic implications
  • because of its ability to suppress AFP gene transcription in hepatic cells, ZFHX3 is a factor associated with differentiation of the hepatocyte
  • strong interaction between AFP and PTEN (phosphatase and tensin homolog), demonstrating that AFP did bind to PTEN
  • ZBTB20 is a sequence-specific transcriptional repressor of AFP
  • cell & other
    REGULATION
    induced by
  • CEBPA by direct binding to the promoter and enhancer
  • regions of the AFP gene
    repressed by ZHX2, that contributes to AFP repression in the liver after birth and may also be involved in AFP reactivation in liver cancer
    Other enhanced expression of AFP by NKX2-8
    ASSOCIATED DISORDERS
    corresponding disease(s) AFP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    differentially upregulated in yolk sac tumors of germ cells
    tumoral     --over  
    in the majority of hepatocellular carcinomas
    constitutional     --over  
    in ASD (autism spectrum disorders)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • AFP is a good candidate for further larger-scale studies to confirm such an association and to determine whether this pattern is unique to ASD or related to other psychiatric disorders as well
  • low AFP levels and increased CA 19-9 levels can be used as tumor markers in diagnosis of molar pregnancies in conjunction with clinical and sonographic findings and serum levels of HCG
  • Therapy target
    ANIMAL & CELL MODELS