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

Gene ID: 197, updated on 7-Apr-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
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Genomic context

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Location:
3q27.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186613060..186621318)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189428789..189437047)
105.20220307 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
  • 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. Can Fetuin-A Deficiency Predict the Severity of COVID-19 Disease in Kidney Transplant Recipients? Pinar M, et al. Transplant Proc, 2023 Jun. PMID 37147199, Free PMC Article
  2. Fetuin-A: A Novel Biomarker of Bone Damage in Early Axial Spondyloarthritis. Results of an Interim Analysis of the SPACE Study. Favero M, et al. Int J Mol Sci, 2023 Feb 6. PMID 36834615, Free PMC Article
  3. Alpha 2-Heremans-Schmid glycoprotein gene polymorphism (rs4918) is associated with coronary artery calcification in incident peritoneal dialysis patients. Dai S, et al. Nephrology (Carlton), 2023 Jan. PMID 36314193
  4. Alpha-2 Heremans Schmid Glycoprotein (AHSG) promotes the proliferation of bladder cancer cells by regulating the TGF-β signalling pathway. Dong Y, et al. Bioengineered, 2022 Jun. PMID 35746836, Free PMC Article
  5. Serum Fetuin-A and Risk of Gestational Diabetes Mellitus: An Observational Study and Mendelian Randomization Analysis. Wu P, et al. J Clin Endocrinol Metab, 2022 Aug 18. PMID 35640639

See all (370) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Fetuin-A and its genetic association with cardiometabolic disease.
    Title: Fetuin-A and its genetic association with cardiometabolic disease.
  4. 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.
  5. 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.
  6. 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?
  7. 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.
  8. 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.
  9. 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.
  10. Expression of mir-29a-5p, sclerostin and fetuin-A in patients with chronic kidney disease and their correlation with vascular calcification.
    Title: Expression of mir-29a-5p, sclerostin and fetuin-A in patients with chronic kidney disease and their correlation with vascular calcification.
Submit: New GeneRIF Correction See all GeneRIFs (276)

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 
Process Evidence Code Pubs
involved_in acute-phase response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
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 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_2023_10

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

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