AFP (alpha fetoprotein)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
174
Gene name Gene Name - the full gene name approved by the HGNC.
Alpha fetoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFP
Synonyms (NCBI Gene) Gene synonyms aliases
AFPD, FETA, HPAFP
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q13.3
Summary Summary of gene provided in NCBI Entrez 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 hepatocarcinoma and with teratoma, and has prognostic value for managing
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT020427 hsa-miR-106b-5p Microarray 17242205
MIRT737348 hsa-miR-224-3p RNA-seq, qRT-PCR 32166120
MIRT2168456 hsa-miR-4719 CLIP-seq
MIRT2168457 hsa-miR-4760-3p CLIP-seq
MIRT2168458 hsa-miR-513b CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
Transcription factor Regulation Reference
CEBPA Unknown 15924879
HNF4A Activation 9792724
HNF4G Activation 9792724
ING1 Repression 14522900
NANOG Repression 15983365
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
104150 317 ENSG00000081051
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Alpha-Fetoprotein Deficiency alpha-fetoprotein deficiency rs121912685, rs387906580 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hereditary Persistence Of Alpha-Fetoprotein hereditary persistence of alpha-fetoprotein N/A N/A GenCC
Show/Hide Text Mining Associations (169)
Associations from Text Mining Disease 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