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

    Gene ID: 197, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:349
    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
    mouse all
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    Genomic context

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    See AHSG in Genome Data Viewer
    Location:
    3q27.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186613060..186621318)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189428789..189437047)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186330849..186339107)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14987 Neighboring gene DnaJ heat shock protein family (Hsp40) member B11 Neighboring gene Sharpr-MPRA regulatory region 9080 Neighboring gene PET100 pseudogene 1 Neighboring gene fetuin B Neighboring gene HRG and FETUB antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:186375416-186375935 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:186380938-186381618 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:186386725-186387924 Neighboring gene histidine rich glycoprotein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The role of fetuin-A in cardiac functions and metabolism in peritoneal dialysis patients. Aydin Z, et al. Minerva Urol Nefrol, 2015 Dec. PMID 24990392
    2. Fetuin-A 742 (C/T) and 766 (C/G) polymorphic sites are associated with increased risk of myocardial infarction in older patients (≥ 40 years of age). Coker-Gurkan A, et al. Mol Med Rep, 2015 Jul. PMID 25815703
    3. High plasma fetuin-A is associated with increased carotid intima-media thickness in a middle-aged population. Rittig K, et al. Atherosclerosis, 2009 Dec. PMID 19615685
    4. Association of human fetuin-A rs4917 polymorphism with obesity in 2 cohorts. Temesszentandrási G, et al. J Investig Med, 2015 Mar. PMID 25695715
    5. Association of Fetuin-A With Incident Fractures in Community-Dwelling Older Adults: The Cardiovascular Health Study. Fink HA, et al. J Bone Miner Res, 2015 Aug. PMID 25656814

    See all (384) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Enhanced Association of Novel Cardiovascular Biomarkers Fetuin-A and Catestatin with Serological and Inflammatory Markers in Rheumatoid Arthritis Patients.
      Title: Enhanced Association of Novel Cardiovascular Biomarkers Fetuin-A and Catestatin with Serological and Inflammatory Markers in Rheumatoid Arthritis Patients.
    2. Evaluation of atherosclerotic risk in rosacea patients through serum fetuin-A and carotid intima media thickness.
      Title: Evaluation of atherosclerotic risk in rosacea patients through serum fetuin-A and carotid intima media thickness.
    3. EVALUATION OF FETUIN-A LEVEL IN POLYCYSTIC OVARY SYNDROME AND ITS ASSOCIATION WITH ASPROSIN AND SOME BIOCHEMICAL PARAMETERS.
      Title: EVALUATION OF FETUIN-A LEVEL IN POLYCYSTIC OVARY SYNDROME AND ITS ASSOCIATION WITH ASPROSIN AND SOME BIOCHEMICAL PARAMETERS.
    4. Fetuin-A and its genetic association with cardiometabolic disease.
      Title: Fetuin-A and its genetic association with cardiometabolic disease.
    5. Reduction of fetuin-A levels contributes to impairment of Purkinje cells in cerebella of patients with Parkinson's disease.
      Title: Reduction of fetuin-A levels contributes to impairment of Purkinje cells in cerebella of patients with Parkinson's disease.
    6. AHSG, a Gene Promoting Tumour Proliferation, Migration and Invasion, is an Independent Prognostic Factor for Poor Overall Survival in Lung Adenocarcinoma.
      Title: AHSG, a Gene Promoting Tumour Proliferation, Migration and Invasion, is an Independent Prognostic Factor for Poor Overall Survival in Lung Adenocarcinoma.
    7. Can Fetuin-A Deficiency Predict the Severity of COVID-19 Disease in Kidney Transplant Recipients?
      Title: Can Fetuin-A Deficiency Predict the Severity of COVID-19 Disease in Kidney Transplant Recipients?
    8. Combined Serum NGAL and Fetuin A to Predict 28-Day Mortality in Patients with Sepsis and Risk Prediction Model Construction.
      Title: Combined Serum NGAL and Fetuin A to Predict 28-Day Mortality in Patients with Sepsis and Risk Prediction Model Construction.
    9. Fetuin-A: A Novel Biomarker of Bone Damage in Early Axial Spondyloarthritis. Results of an Interim Analysis of the SPACE Study.
      Title: Fetuin-A: A Novel Biomarker of Bone Damage in Early Axial Spondyloarthritis. Results of an Interim Analysis of the SPACE Study.
    10. Alpha 2-Heremans-Schmid glycoprotein gene polymorphism (rs4918) is associated with coronary artery calcification in incident peritoneal dialysis patients.
      Title: Alpha 2-Heremans-Schmid glycoprotein gene polymorphism (rs4918) is associated with coronary artery calcification in incident peritoneal dialysis patients.
    Submit: New GeneRIF Correction See all GeneRIFs (277)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Alopecia-intellectual disability syndrome 1
    MedGen: C1859878 OMIM: 203650 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables kinase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acute-phase response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in acute-phase response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of bone mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of insulin receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pinocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of phagocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of bone mineralization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal system development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in blood microparticle HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region HDA PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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
      5000..13258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001354571.2 → NP_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
      UniProtKB/TrEMBL
      B7Z8Q2, C9JV77
      Related
      ENSP00000273784.5, ENST00000273784.5
      Conserved Domains (2) summary
      smart00043
      Location:31 → 133
      CY; Cystatin-like domain
      pfam00031
      Location:150 → 240
      Cystatin; Cystatin domain

    2. NM_001354572.2 → NP_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
      UniProtKB/TrEMBL
      B7Z8Q2
      Conserved Domains (2) summary
      pfam00031
      Location:148 → 238
      Cystatin; Cystatin domain
      cl09238
      Location:31 → 132
      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_001354573.2 → NP_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:31 → 133
      CY; Cystatin-like domain
      cl09238
      Location:149 → 226
      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_001622.4 → NP_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
      A8K9N6, B2R7G1, O14961, O14962, P02765, Q9P152
      UniProtKB/TrEMBL
      B7Z8Q2
      Related
      ENSP00000393887.2, ENST00000411641.7
      Conserved Domains (2) summary
      smart00043
      Location:31 → 133
      CY; Cystatin-like domain
      pfam00031
      Location:149 → 239
      Cystatin; Cystatin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      186613060..186621318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      189428789..189437047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02765.2 GenPept UniProtKB/Swiss-Prot:P02765

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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