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

    Gene ID: 197, updated on 4-Nov-2018

    Summary

    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

    Genomic context

    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

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 insulin receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of kinase activity 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 

    General protein information

    Preferred Names
    alpha-2-HS-glycoprotein
    Names
    alpha-2-Z-globulin
    ba-alpha-2-glycoprotein
    fetuin-A

    NCBI Reference Sequences (RefSeq)

    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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