AHSG (alpha 2-HS glycoprotein)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 197
Gene name Alpha 2-HS glycoprotein
Gene symbol AHSG
Synonyms (NCBI Gene)
A2HSAHSAPMR1FETUAHSGA
Chromosome 3
Chromosome location 3q27.3
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
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs201849460 G>A,T Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development NAS 12153747
GO:0001503 Process Ossification IEA
GO:0004866 Function Endopeptidase inhibitor activity IBA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138680 349 ENSG00000145192
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02765
Protein name Alpha-2-HS-glycoprotein (Alpha-2-Z-globulin) (Ba-alpha-2-glycoprotein) (Fetuin-A) [Cleaved into: Alpha-2-HS-glycoprotein chain A; Alpha-2-HS-glycoprotein chain B]
Protein function Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00031 Cystatin 149 → 239 Cystatin domain Domain
Tissue specificity TISSUE SPECIFICITY: Synthesized in liver and selectively concentrated in bone matrix. Secreted in plasma. It is also found in dentin in much higher quantities than other plasma proteins.
Sequence 
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTL
NQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLK
LDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNF
QLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEKQYGFCKATLSEKLGG
AEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVL
LAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPG
RIRHFKV
Sequence length 367
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Platelet degranulation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alopecia-intellectual disability syndrome 1 Pathogenic rs201849460 RCV000578120
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AHSG-related disorder Likely benign; Benign rs144873304, rs4831, rs35799453, rs150951901 RCV003954187
RCV003979555
RCV003914288
RCV003922249
Nephrolithiasis, calcium oxalate association rs2070634, rs2070635 RCV000128583
RCV000128584
RECLASSIFIED - AHSG POLYMORPHISM Benign rs4917, rs4918, rs2593813 RCV000017418
RCV000017419
RCV000017420
Show/Hide Text Mining Associations (112)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 36935573
Adenocarcinoma of Lung Associate 39745726
Anemia Refractory with Excess of Blasts Inhibit 24958999
Aneurysm Ascending Aorta Associate 36922793
Aortic Aneurysm Thoracic Inhibit 36922793
Aortic Valve Calcification of Inhibit 21527649
Arthritis Rheumatoid Associate 23056292, 23418544, 39337398
Ataxia Telangiectasia Associate 32496505
Atherosclerosis Associate 24969186, 27487851
Blood Coagulation Disorders Associate 36224755