Human Gene AHSG (ENST00000411641.7_9) from GENCODE V47lift37
  Description: alpha 2-HS glycoprotein, transcript variant 2 (from RefSeq NM_001622.4)
Gencode Transcript: ENST00000411641.7_9
Gencode Gene: ENSG00000145192.13_12
Transcript (Including UTRs)
   Position: hg19 chr3:186,330,849-186,339,107 Size: 8,259 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr3:186,330,931-186,338,719 Size: 7,789 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:186,330,849-186,339,107)mRNA (may differ from genome)Protein (367 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FETUA_HUMAN
DESCRIPTION: RecName: Full=Alpha-2-HS-glycoprotein; AltName: Full=Alpha-2-Z-globulin; AltName: Full=Ba-alpha-2-glycoprotein; AltName: Full=Fetuin-A; Contains: RecName: Full=Alpha-2-HS-glycoprotein chain A; Contains: RecName: Full=Alpha-2-HS-glycoprotein chain B; Flags: Precursor;
FUNCTION: Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
SUBUNIT: Alpha-2-HS glycoprotein derives from this precursor, when the connecting peptide is cleaved off. The two chains A and B are held together by a single disulfide bond.
INTERACTION: P00519:ABL1; NbExp=1; IntAct=EBI-1223374, EBI-375543; O88736:Hsd17b7 (xeno); NbExp=1; IntAct=EBI-1223374, EBI-2552537;
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Synthesized in liver and selectively concentrated in bone matrix. Secreted in plasma. It is also found in dentin in much higher quantities than other plasma proteins.
PTM: Phosphorylation sites are present in the extracellular medium.
PTM: O- and N-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan at Asn-156: Hex5HexNAc4; N-glycan heterogeneity at Asn-176: Hex5HexNAc4 (major) and Hex6HexNAc5 (minor).
POLYMORPHISM: There are two common alleles, AHSG*1 and AHSG*2. AHSG*1 has Thr-248/Thr-256; AHSG*2 has Met-248/Ser-256.
SIMILARITY: Belongs to the fetuin family.
SIMILARITY: Contains 2 cystatin fetuin-A-type domains.

-  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: AHSG
Diseases sorted by gene-association score: alopecia-intellectual disability syndrome* (247), epstein-barr virus hepatitis (15), eccrine papillary adenocarcinoma (14), testicular yolk sac tumor (13), alcoholic liver cirrhosis (8), calcinosis (7), uremia (7), eccrine adenocarcinoma (6), sialolithiasis (6), epidermolysis bullosa simplex with muscular dystrophy (4), 3-methylglutaconic aciduria, type v (4), osteoporosis (2), diabetes mellitus, noninsulin-dependent (1)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 826.42 RPKM in Liver
Total median expression: 829.73 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 -30.1082-0.367 Picture PostScript Text
3' UTR -108.90388-0.281 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
IPR025760 - Cystatin_Fetuin_A
IPR000010 - Prot_inh_cystat
IPR001363 - Prot_inh_fetuin_CS

Pfam Domains:
PF00031 - Cystatin domain

SCOP Domains:
54403 - Cystatin/monellin

ModBase Predicted Comparative 3D Structure on P02765
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004866 endopeptidase inhibitor activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0019210 kinase inhibitor activity

Biological Process:
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0002576 platelet degranulation
GO:0006907 pinocytosis
GO:0006953 acute-phase response
GO:0010951 negative regulation of endopeptidase activity
GO:0030500 regulation of bone mineralization
GO:0030502 negative regulation of bone mineralization
GO:0042326 negative regulation of phosphorylation
GO:0043312 neutrophil degranulation
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0050727 regulation of inflammatory response
GO:0050766 positive regulation of phagocytosis
GO:0070168 negative regulation of biomineral tissue development

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0031012 extracellular matrix
GO:0031093 platelet alpha granule lumen
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AK303754 - Homo sapiens cDNA FLJ55606 complete cds, highly similar to Alpha-2-HS-glycoprotein precursor.
AK298447 - Homo sapiens cDNA FLJ56822 complete cds, highly similar to Alpha-2-HS-glycoprotein precursor.
AK312969 - Homo sapiens cDNA, FLJ93429, Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.
AK292751 - Homo sapiens cDNA FLJ77950 complete cds, highly similar to Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.
BC048198 - Homo sapiens alpha-2-HS-glycoprotein, mRNA (cDNA clone MGC:52261 IMAGE:5798874), complete cds.
BC052590 - Homo sapiens alpha-2-HS-glycoprotein, mRNA (cDNA clone MGC:59866 IMAGE:6300060), complete cds.
M16961 - Human alpha-2-HS-glycoprotein alpha and beta chain mRNA, complete cds.
AB527879 - Synthetic construct DNA, clone: pF1KB6535, Homo sapiens AHSG gene for alpha-2-HS-glycoprotein, without stop codon, in Flexi system.
CU690918 - Synthetic construct Homo sapiens gateway clone IMAGE:100022429 5' read AHSG mRNA.
HQ447699 - Synthetic construct Homo sapiens clone IMAGE:100071027; CCSB013649_01 alpha-2-HS-glycoprotein (AHSG) gene, encodes complete protein.
KJ896401 - Synthetic construct Homo sapiens clone ccsbBroadEn_05795 AHSG gene, encodes complete protein.
KR711306 - Synthetic construct Homo sapiens clone CCSBHm_00022499 AHSG (AHSG) mRNA, encodes complete protein.
KR711307 - Synthetic construct Homo sapiens clone CCSBHm_00022500 AHSG (AHSG) mRNA, encodes complete protein.
D67012 - Homo sapiens mRNA for alpha2-HS glycoprotein, partial cds.
AF119895 - Homo sapiens PRO2743 mRNA, complete cds.
JD102224 - Sequence 83248 from Patent EP1572962.
JD349067 - Sequence 330091 from Patent EP1572962.
JD334370 - Sequence 315394 from Patent EP1572962.
JD311361 - Sequence 292385 from Patent EP1572962.
JD250419 - Sequence 231443 from Patent EP1572962.
JD317868 - Sequence 298892 from Patent EP1572962.
JD279244 - Sequence 260268 from Patent EP1572962.
JD309956 - Sequence 290980 from Patent EP1572962.
JD549395 - Sequence 530419 from Patent EP1572962.

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

Protein P02765 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-6798695 Neutrophil degranulation
R-HSA-114608 Platelet degranulation
R-HSA-168249 Innate Immune System
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
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-168256 Immune System
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9N6, B2R7G1, ENST00000411641.1, ENST00000411641.2, ENST00000411641.3, ENST00000411641.4, ENST00000411641.5, ENST00000411641.6, FETUA, FETUA_HUMAN, NM_001622, O14961, O14962, P02765, PRO2743, Q9P152, uc319hsl.1, uc319hsl.2
UCSC ID: ENST00000411641.7_9
RefSeq Accession: NM_001622.4
Protein: P02765 (aka FETUA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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