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AHSG alpha 2-HS glycoprotein [ Homo sapiens (human) ]

Gene ID: 197, updated on 8-Jul-2018
Official Symbol
AHSGprovided by HGNC
Official Full Name
alpha 2-HS glycoproteinprovided by HGNC
Primary source
HGNC:HGNC:349
See related
Ensembl:ENSG00000145192 MIM:138680; Vega:OTTHUMG00000156605
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AHS; A2HS; HSGA; APMR1; FETUA
Summary
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]
Expression
Restricted expression toward liver (RPKM 1605.5) See more
Orthologs
See AHSG in Genome Data Viewer
Location:
3q27.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (186612923..186621318)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186330850..186339107)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member B11 Neighboring gene uncharacterized LOC100287402 Neighboring gene uncharacterized LOC105374258 Neighboring gene fetuin B Neighboring gene histidine rich glycoprotein

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Alopecia mental retardation syndrome 1
MedGen: C1859878 OMIM: 203650 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
NHGRI GWA Catalog
  • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    BMP receptor signaling, organism-specific biosystem
    BMP receptor signaling
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
acute-phase response IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of phosphorylation IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
pinocytosis NAS
Non-traceable Author Statement
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of phagocytosis IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of bone mineralization NAS
Non-traceable Author Statement
more info
PubMed 
regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system development NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
blood microparticle HDA PubMed 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region HDA PubMed 
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space NAS
Non-traceable Author Statement
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 
Preferred Names
alpha-2-HS-glycoprotein
Names
alpha-2-Z-globulin
ba-alpha-2-glycoprotein
fetuin-A

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011436.1 RefSeqGene

    Range
    4863..13258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354571.1NP_001341500.1  alpha-2-HS-glycoprotein isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC068631
    Consensus CDS
    CCDS87176.1
    Related
    ENSP00000273784.5, ENST00000273784.5
    Conserved Domains (2) summary
    smart00043
    Location:31133
    CY; Cystatin-like domain
    pfam00031
    Location:150240
    Cystatin; Cystatin domain
  2. NM_001354572.1NP_001341501.1  alpha-2-HS-glycoprotein isoform 3 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.
    Source sequence(s)
    AC068631
    Conserved Domains (2) summary
    pfam00031
    Location:148238
    Cystatin; Cystatin domain
    cl09238
    Location:31132
    CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
  3. NM_001354573.1NP_001341502.1  alpha-2-HS-glycoprotein isoform 4 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC068631
    Conserved Domains (2) summary
    smart00043
    Location:31133
    CY; Cystatin-like domain
    cl09238
    Location:149226
    CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
  4. NM_001622.3NP_001613.2  alpha-2-HS-glycoprotein isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001613.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AC068631, AK303754, BC052590
    Consensus CDS
    CCDS3278.1
    UniProtKB/Swiss-Prot
    P02765
    Related
    ENSP00000393887.2, OTTHUMP00000210158, ENST00000411641.6
    Conserved Domains (2) summary
    smart00043
    Location:31133
    CY; Cystatin-like domain
    pfam00031
    Location:149239
    Cystatin; Cystatin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    186612923..186621318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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