AHSG (alpha 2-HS glycoprotein)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
197
Gene name Gene Name - the full gene name approved by the HGNC.
Alpha 2-HS glycoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AHSG
Synonyms (NCBI Gene) Gene synonyms aliases
A2HS, AHS, APMR1, FETUA, HSGA
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q27.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138680 349 ENSG00000145192
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Alopecia-mental retardation syndrome Alopecia-intellectual disability syndrome 1 rs201849460 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Nephronophthisis nephrolithiasis, calcium oxalate N/A N/A ClinVar
Otosclerosis Otosclerosis N/A N/A GWAS
Show/Hide Text Mining Associations (112)
Associations from Text Mining Disease 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