Human Gene AHSG (ENST00000273784.5) from GENCODE V44
  Description: Homo sapiens alpha 2-HS glycoprotein (AHSG), transcript variant 1, mRNA. (from RefSeq NM_001354571)
RefSeq Summary (NM_001354571): The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017].
Gencode Transcript: ENST00000273784.5
Gencode Gene: ENSG00000145192.13
Transcript (Including UTRs)
   Position: hg38 chr3:186,613,066-186,621,300 Size: 8,235 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr3:186,613,142-186,620,930 Size: 7,789 Coding Exon Count: 7 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:186,613,066-186,621,300)mRNA (may differ from genome)Protein (368 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C9JV77_HUMAN
DESCRIPTION: SubName: Full=Alpha-2-HS-glycoprotein;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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

-  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 -29.4076-0.387 Picture PostScript Text
3' UTR -108.40370-0.293 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

ModBase Predicted Comparative 3D Structure on C9JV77
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:0004869 cysteine-type endopeptidase inhibitor activity

Biological Process:
GO:0010951 negative regulation of endopeptidase activity

Cellular Component:
GO:0005615 extracellular space
GO:0005794 Golgi apparatus


-  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.

-  Other Names for This Gene
  Alternate Gene Symbols: C9JV77, C9JV77_HUMAN, ENST00000273784.1, ENST00000273784.2, ENST00000273784.3, ENST00000273784.4, NM_001354571, uc062rbw.1
UCSC ID: ENST00000273784.5
RefSeq Accession: NM_001354571
Protein: C9JV77 CCDS: CCDS3278.1

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