AFP (alpha fetoprotein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 174
Gene name Alpha fetoprotein
Gene symbol AFP
Synonyms (NCBI Gene)
AFPDFETAHPAFP
Chromosome 4
Chromosome location 4q13.3
Summary 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
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs121912685 G>A Pathogenic Stop gained, coding sequence variant
rs387906580 CT>- Pathogenic Coding sequence variant, frameshift variant
rs587776861 G>A Affects Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT020427 hsa-miR-106b-5p Microarray 17242205
MIRT737348 hsa-miR-224-3p RNA-seqqRT-PCR 32166120
MIRT2168456 hsa-miR-4719 CLIP-seq
MIRT2168457 hsa-miR-4760-3p CLIP-seq
MIRT2168458 hsa-miR-513b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CEBPA Unknown 15924879
HNF4A Activation 9792724
HNF4G Activation 9792724
ING1 Repression 14522900
NANOG Repression 15983365
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001542 Process Ovulation from ovarian follicle IEA
GO:0005515 Function Protein binding IPI 26808496, 39822733
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
104150 317 ENSG00000081051
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02771
Protein name Alpha-fetoprotein (Alpha-1-fetoprotein) (Alpha-fetoglobulin)
Protein 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.
PDB 3MRK , 7RE7 , 7RE8 , 7YIM , 8X1N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00273 Serum_albumin 30 → 202 Serum albumin family Domain
PF00273 Serum_albumin 222 → 394 Serum albumin family Domain
PF00273 Serum_albumin 414 → 592 Serum albumin family Domain
Tissue specificity TISSUE SPECIFICITY: Plasma. Synthesized by the fetal liver and yolk sac.
Sequence
Sequence length 609
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Hippo signaling pathway   Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alpha-fetoprotein deficiency Pathogenic rs387906580, rs121912685 RCV000019799
RCV000019800
Premature ovarian failure Likely pathogenic rs146692547 RCV001270197
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AFP-related disorder Benign; Likely benign rs7667494, rs200600473, rs144799463, rs146576905, rs114970091 RCV003974523
RCV003926781
RCV003954460
RCV003957249
RCV003962163
Alpha-fetoprotein, hereditary persistence of Affects; Likely benign rs1719498256, rs587776861, rs182003350 RCV000190821
RCV000019798
RCV005356960
Clear cell carcinoma of kidney Likely benign rs182003350 RCV005939750
Familial cancer of breast Likely benign rs182003350 RCV005939748
Show/Hide Text Mining Associations (169)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 71231
Acute On Chronic Liver Failure Associate 25716231
Adenocarcinoma Associate 1376179, 15897638
Adenocarcinoma of Lung Associate 33607799
Adenoma Islet Cell Stimulate 20678188
Adenomatous Polyposis Coli Associate 22073196
Adult onset citrullinemia type 2 Stimulate 37146272
Alcoholic Neuropathy Stimulate 23941260
alpha Fetoprotein Deficiency Associate 31915469
Amyloidosis Familial Associate 6736244