Human Gene AFP (ENST00000395792.7) from GENCODE V44
  Description: Homo sapiens alpha fetoprotein (AFP), transcript variant 2, mRNA. (from RefSeq NM_001354717)
RefSeq Summary (NM_001134): 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 advanced gastric cancer. 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, Oct 2019].
Gencode Transcript: ENST00000395792.7
Gencode Gene: ENSG00000081051.8
Transcript (Including UTRs)
   Position: hg38 chr4:73,436,221-73,456,174 Size: 19,954 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr4:73,436,263-73,455,280 Size: 19,018 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:73,436,221-73,456,174)mRNA (may differ from genome)Protein (609 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FETA_HUMAN
DESCRIPTION: RecName: Full=Alpha-fetoprotein; AltName: Full=Alpha-1-fetoprotein; AltName: Full=Alpha-fetoglobulin; Flags: Precursor;
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.
SUBUNIT: Dimeric and trimeric forms have been found in addition to the monomeric form.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Plasma. Synthesized by the fetal liver and yolk sac.
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.
PTM: Independent studies suggest heterogeneity of the N-terminal sequence of the mature protein and of the cleavage site of the signal sequence.
PTM: Sulfated.
SIMILARITY: Belongs to the ALB/AFP/VDB family.
SIMILARITY: Contains 3 albumin domains.
WEB RESOURCE: Name=Wikipedia; Note=Alpha-fetoprotein entry; URL="http://en.wikipedia.org/wiki/Alpha-fetoprotein";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AFP
Diseases sorted by gene-association score: alpha-fetoprotein deficiency* (1269), alpha-fetoprotein, hereditary persistence of* (350), teratoma (46), endodermal sinus tumor (39), liver cirrhosis (33), sertoli-leydig cell tumor (32), embryonal carcinoma (30), testicular cancer (28), hepatoid adenocarcinoma (26), orofaciodigital syndrome viii (25), testicular yolk sac tumor (25), mature teratoma (25), seminoma (25), chromosomal disease (24), extragonadal germ cell cancer (24), pancreatoblastoma (24), hydrocele (23), hepatic angiomyolipoma (23), nonseminomatous germ cell tumor (19), hepatoblastoma (18), mixed germ cell tumor (18), malignant teratoma (18), hepatocellular carcinoma (18), urachal adenocarcinoma (18), malignant sertoli cell tumor (18), polyembryoma (18), cholangiocarcinoma, susceptibility to (18), oligohydramnios (17), anencephaly (17), ovarian endodermal sinus tumor (17), ovarian primitive germ cell tumor (16), acinar cell carcinoma (16), viral hepatitis (16), testicular malignant germ cell cancer (16), chorioangioma (16), mixed hepatoblastoma (16), mediastinal cancer (16), hemangioma of intra-abdominal structure (16), liver sarcoma (16), brain germinoma (16), gastric teratoma (15), malignant pineal area germ cell neoplasm (15), adult teratoma (15), ovarian cyst (15), vaginal yolk sac tumor (15), pineal region teratoma (15), liver disease (14), intrahepatic bile duct adenoma (14), liver lymphoma (14), gastrointestinal system cancer (14), ovarian gonadoblastoma (14), pineal region germinoma (14), placenta disease (13), portal vein thrombosis (13), tyrosinemia, type i (13), germ cell and embryonal cancer (13), hepatitis b (13), neural tube defects (12), tyrosinemia (12), autosomal recessive cerebellar ataxia (12), bile duct adenocarcinoma (12), patau syndrome (12), mixed germ cell cancer (11), ovarian embryonal carcinoma (11), hepatitis (11), liver inflammatory pseudotumor (11), juvenile type testicular granulosa cell tumor (10), extragonadal nonseminomatous germ cell tumor (10), testicular granulosa cell tumor (10), sacrococcygeal teratoma (10), gastric adenocarcinoma (10), sclerosing hepatic carcinoma (10), down syndrome (10), renal pelvis adenocarcinoma (10), tubular adenocarcinoma (10), mucinous cystadenofibroma (10), ovarian solid teratoma (10), adenomatoid tumor (10), vitamin k deficiency hemorrhagic disease (9), embryonal testis carcinoma (9), triploidy (9), hepatitis a (9), intrahepatic cholangiocarcinoma (8), cystic lymphangioma (8), pancoast tumor (8), placental insufficiency (8), sex cord-gonadal stromal tumor (8), corpus luteum cyst (8), pineoblastoma (8), leydig cell tumor (8), sternum cancer (8), testicular germ cell tumor (8), spinocerebellar ataxia, autosomal recessive 1 (8), esophageal varix (8), dysgerminoma of ovary (7), pancreatic acinar cell adenocarcinoma (7), childhood endodermal sinus tumor (7), testicular infarct (7), polyhydramnios (7), congenital nephrotic syndrome finnish type (7), tuberculous epididymitis (7), intratubular embryonal carcinoma (7), rh isoimmunization (7), gallbladder cancer (7), alpha 1-antitrypsin deficiency (7), choriocarcinoma of the testis (6), hepatic vascular disease (6), ovarian germ cell teratoma (6), rete testis adenocarcinoma (6), opisthorchiasis (6), melanotic medulloblastoma (6), hepatic adenoma, somatic (6), bile duct cystadenocarcinoma (6), omphalocele (6), sc phocomelia syndrome (6), central nervous system germ cell tumor (6), oculomotor nerve paralysis (5), third cranial nerve disease (5), scrotal carcinoma (5), malignant biphasic mesothelioma (5), vein disease (5), rete testis neoplasm (5), cystadenofibroma (5), reproductive organ benign neoplasm (5), neonatal myasthenia gravis (5), extragonadal seminoma (5), malignant struma ovarii (5), hepatic coma (5), hematocele of tunica vaginalis testis (5), epidermolysis bullosa, junctional, herlitz type (5), uterine disease (5), endometrial small cell carcinoma (5), renal pelvis carcinoma (5), glycogen storage disease iiia (5), fibrolamellar carcinoma (5), telangiectasis (5), balanoposthitis (5), pancreatic cystadenocarcinoma (4), ataxia with isolated vitamin e deficiency (4), seminal vesicle tumor (4), physical disorder (4), mixed cell type cancer (4), bladder neck obstruction (4), botryoid rhabdomyosarcoma (4), cloacal exstrophy (4), dyskinetic cerebral palsy (4), hydrolethalus syndrome (3), stomach cancer (3), beckwith-wiedemann syndrome (2), cryptorchidism (2), cell type cancer (2), gastrointestinal system disease (2), gastric cancer, somatic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.80 RPKM in Liver
Total median expression: 1.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.8042-0.067 Picture PostScript Text
3' UTR -110.80554-0.200 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001703 - Alpha-fetoprotein
IPR000264 - Serum_albumin
IPR020858 - Serum_albumin-like
IPR020857 - Serum_albumin_CS
IPR014760 - Serum_albumin_N
IPR021177 - Serum_albumin_subgr

Pfam Domains:
PF00273 - Serum albumin family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3MRK - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02771
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0001542 ovulation from ovarian follicle
GO:0019953 sexual reproduction
GO:0042448 progesterone metabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0060395 SMAD protein signal transduction

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  AF484526 - Homo sapiens alpha-fetoprotein (AFP) mRNA, variant transcript A 5'UTR, alternatively spliced.
AF484525 - Homo sapiens alpha-fetoprotein (AFP) mRNA, variant transcript AB 5'UTR, alternatively spliced.
V01514 - Human mRNA encoding alpha-fetoprotein (AFP). AFP is a major serum protein (MG: 70000) synthesized during fetal life.
AK297669 - Homo sapiens cDNA FLJ51509 complete cds, highly similar to Alpha-fetoprotein precursor.
AK314817 - Homo sapiens cDNA, FLJ95694, highly similar to Homo sapiens alpha-fetoprotein (AFP), mRNA.
AK297674 - Homo sapiens cDNA FLJ57154 complete cds, highly similar to Alpha-fetoprotein precursor.
BC027881 - Homo sapiens alpha-fetoprotein, mRNA (cDNA clone MGC:34639 IMAGE:5208299), complete cds.
JD315995 - Sequence 297019 from Patent EP1572962.
DQ894103 - Synthetic construct Homo sapiens clone IMAGE:100008563; FLH167749.01L; RZPDo839E1189D alpha-fetoprotein (AFP) gene, encodes complete protein.
DQ890942 - Synthetic construct clone IMAGE:100003572; FLH167753.01X; RZPDo839E1190D alpha-fetoprotein (AFP) gene, encodes complete protein.
CU693306 - Synthetic construct Homo sapiens gateway clone IMAGE:100017429 5' read AFP mRNA.
KJ890642 - Synthetic construct Homo sapiens clone ccsbBroadEn_00036 AFP gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P02771 (Reactome details) participates in the following event(s):

R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: B2RBU3, ENST00000395792.1, ENST00000395792.2, ENST00000395792.3, ENST00000395792.4, ENST00000395792.5, ENST00000395792.6, FETA_HUMAN, HPAFP, NM_001354717, P02771, uc003hgz.1, uc003hgz.2, uc003hgz.3, uc003hgz.4
UCSC ID: ENST00000395792.7
RefSeq Accession: NM_001134
Protein: P02771 (aka FETA_HUMAN)
CCDS: CCDS3556.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.