AHSG Gene (Protein Coding)

Alpha 2-HS Glycoprotein

GC03P186612
GIFtS:
44
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 cau... See more...

Aliases for AHSG Gene

Aliases for AHSG Gene

  • Alpha 2-HS Glycoprotein 2 3 5
  • FETUA 2 3 4
  • Alpha-2-HS-Glycoprotein 3 4
  • Ba-Alpha-2-Glycoprotein 3 4
  • Alpha-2-Z-Globulin 3 4
  • Fetuin-A 3 4
  • A2HS 2 3
  • HSGA 2 3
  • Fetuin A 2
  • APMR1 3
  • AHSG 5
  • AHS 3

External Ids for AHSG Gene

Previous GeneCards Identifiers for AHSG Gene

  • GC03P183102
  • GC03P187587
  • GC03P187732
  • GC03P187651
  • GC03P187813
  • GC03P186330
  • GC03P183739

Summaries for AHSG Gene

Entrez Gene Summary for AHSG 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 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]

GeneCards Summary for AHSG Gene

AHSG (Alpha 2-HS Glycoprotein) is a Protein Coding gene. Diseases associated with AHSG include Alopecia-Intellectual Disability Syndrome and Alopecia-Mental Retardation Syndrome 1. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Innate Immune System. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase inhibitor activity and kinase inhibitor activity. An important paralog of this gene is FETUB.

UniProtKB/Swiss-Prot Summary for AHSG Gene

  • Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.

Gene Wiki entry for AHSG Gene

Additional gene information for AHSG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHSG Gene

Genomics for AHSG Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AHSG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHSG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHSG

Top Transcription factor binding sites by QIAGEN in the AHSG gene promoter:
  • AML1a
  • C/EBPalpha
  • E4BP4
  • FOXL1
  • GATA-1
  • NF-kappaB
  • NF-kappaB1
  • SRY
  • STAT3

Genomic Locations for AHSG Gene

Latest Assembly
chr3:186,613,060-186,621,318
(GRCh38/hg38)
Size:
8,259 bases
Orientation:
Plus strand

Previous Assembly
chr3:186,330,849-186,339,107
(GRCh37/hg19 by Entrez Gene)
Size:
8,259 bases
Orientation:
Plus strand

chr3:186,330,712-186,339,107
(GRCh37/hg19 by Ensembl)
Size:
8,396 bases
Orientation:
Plus strand

Genomic View for AHSG Gene

Genes around AHSG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHSG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHSG Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AHSG Gene

Proteins for AHSG Gene

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  • Protein details for AHSG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02765-FETUA_HUMAN
    Recommended name:
    Alpha-2-HS-glycoprotein
    Protein Accession:
    P02765
    Secondary Accessions:
    • A8K9N6
    • B2R7G1
    • O14961
    • O14962
    • Q9P152

    Protein attributes for AHSG Gene

    Size:
    367 amino acids
    Molecular mass:
    39341 Da
    Quaternary structure:
    • Alpha-2-HS glycoprotein derives from this precursor, when the connecting peptide is cleaved off. The two chains A and B are held together by a single disulfide bond.

neXtProt entry for AHSG Gene

Protein Expression for AHSG Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AHSG Gene

  • Phosphorylated by FAM20C in the extracellular medium.
  • O- and N-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan at Asn-156: Hex5HexNAc4; N-glycan heterogeneity at Asn-176: Hex5HexNAc4 (major) and Hex6HexNAc5 (minor).
  • Glycosylation at Asn156, Asn176, Thr270, Ser280, Ser293, Thr339, Thr341, and Ser346
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FETUA_HUMAN (23)

Other Protein References for AHSG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AHSG Gene

Domains & Families for AHSG Gene

Gene Families for AHSG Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for AHSG Gene

InterPro:
Blocks:
  • Cysteine protease inhibitor

Suggested Antigen Peptide Sequences for AHSG Gene

GenScript: Design optimal peptide antigens:
  • Fetuin-A (FETUA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02765

UniProtKB/Swiss-Prot:

FETUA_HUMAN :
  • Belongs to the fetuin family.
Family:
  • Belongs to the fetuin family.
genes like me logo Genes that share domains with AHSG: view

Function for AHSG Gene

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  6. Cell Lines for research

Molecular function for AHSG Gene

UniProtKB/Swiss-Prot Function:
Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
GENATLAS Biochemistry:
HS-glycoprotein,alpha-2-,inhibitor of the insulin-receptor tyrosine kinase,pp63 (cystatin superfamily)

Phenotypes From GWAS Catalog for AHSG Gene

Gene Ontology (GO) - Molecular Function for AHSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity IBA 21873635
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA --
GO:0019210 kinase inhibitor activity NAS 12203945
genes like me logo Genes that share ontologies with AHSG: view
genes like me logo Genes that share phenotypes with AHSG: view

Human Phenotype Ontology for AHSG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AHSG Gene

MGI Knock Outs for AHSG:
  • Ahsg Ahsg<tm1Mbl>
  • Ahsg Ahsg<tm1.1(KOMP)Vlcg>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHSG

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for AHSG Gene

Localization for AHSG Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHSG Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHSG gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
lysosome 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AHSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IEA,NAS 11922920
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IDA --
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with AHSG: view

Pathways & Interactions for AHSG Gene

genes like me logo Genes that share pathways with AHSG: view

Pathways by source for AHSG Gene

1 BioSystems pathway for AHSG Gene
1 Cell Signaling Technology pathway for AHSG Gene

Gene Ontology (GO) - Biological Process for AHSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 12153747
GO:0001503 ossification IEA --
GO:0002576 platelet degranulation TAS --
GO:0006907 pinocytosis NAS 12773197
GO:0006953 acute-phase response IDA 12153747
genes like me logo Genes that share ontologies with AHSG: view

No data available for SIGNOR curated interactions for AHSG Gene

Drugs & Compounds for AHSG Gene

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(12) Drugs for AHSG Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, chelator 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Target, chelator 0

(9) Additional Compounds for AHSG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AHSG: view

Transcripts for AHSG Gene

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mRNA/cDNA for AHSG Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHSG

Alternative Splicing Database (ASD) splice patterns (SP) for AHSG Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6: -

Relevant External Links for AHSG Gene

GeneLoc Exon Structure for
AHSG

Expression for AHSG Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AHSG Gene

mRNA expression in normal human tissues for AHSG Gene
mRNA expression by BioGPS for AHSG GenemRNA expression by GTEx for AHSG Gene

mRNA differential expression in normal tissues according to GTEx for AHSG Gene

This gene is overexpressed in Liver (x52.7).

Protein differential expression in normal tissues from HIPED for AHSG Gene

This gene is overexpressed in Serum (13.6), Lavage (12.3), Plasma (9.8), Synovial fluid (9.1), and Monocytes (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AHSG Gene



Protein tissue co-expression partners for AHSG Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHSG

SOURCE GeneReport for Unigene cluster for AHSG Gene:

Hs.324746

mRNA Expression by UniProt/SwissProt for AHSG Gene:

P02765-FETUA_HUMAN
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.

Evidence on tissue expression from TISSUES for AHSG Gene

  • Liver(5)
  • Blood(4.7)
  • Nervous system(4.4)
  • Bone marrow(4.4)
  • Saliva(4.3)
  • Heart(3.2)
  • Kidney(2.6)
  • Lung(2.5)
  • Muscle(2.2)
  • Intestine(2.1)
  • Bone(2.1)
  • Pancreas(2.1)
  • Urine(2)
genes like me logo Genes that share expression patterns with AHSG: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AHSG Gene

Orthologs for AHSG Gene

This gene was present in the common ancestor of chordates.

Orthologs for AHSG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia AHSG 29 30
  • 98.91 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AHSG 29 30
  • 79.09 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AHSG 29 30
  • 75.49 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ahsg 29 16 30
  • 73.08 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ahsg 29
  • 72.81 (n)
Oppossum
(Monodelphis domestica)
 Mammalia AHSG 30
  • 49 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia AHSG 30
  • 48 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AHSG 29 30
  • 52.22 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AHSG 30
  • 36 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ahsg 29
  • 50.94 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ahsg 29
  • 47.66 (n)
AHSG 30
  • 26 (a)
 OneToOne
Species where no ortholog for AHSG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AHSG Gene

ENSEMBL:
Gene Tree for AHSG (if available)
TreeFam:
Gene Tree for AHSG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AHSG: view image
Alliance of Genome Resources:
Additional Orthologs for AHSG

Paralogs for AHSG Gene

Paralogs for AHSG Gene

genes like me logo Genes that share paralogs with AHSG: view

Variants for AHSG Gene

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  1. SNP Genotyping and Copy Number Assays for research

Polymorphic Variants from UniProtKB/Swiss-Prot for AHSG Gene

FETUA_HUMAN-P02765
There are two common alleles, AHSG*1 and AHSG*2. AHSG*1 has Thr-248/Thr-256; AHSG*2 has Met-248/Ser-256.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHSG Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1029361 Pathogenic: Alopecia-intellectual disability syndrome 1 186,613,145(+) A/T
NM_001622.4(AHSG):c.4A>T (p.Lys2Ter) 		NONSENSE
1032762 Uncertain Significance: Alopecia-intellectual disability syndrome 1 186,620,850(+) G/A
NM_001622.4(AHSG):c.1024G>A (p.Val342Met) 		MISSENSE
rs150486317 Benign: not provided 186,613,349(+) C/T
NM_001622.4(AHSG):c.208C>T (p.Pro70Ser) 		MISSENSE
rs181773787 Benign: not provided 186,617,180(+) C/T
NM_001622.4(AHSG):c.410-7C>T 		INTRON
rs201849460 Pathogenic: Alopecia-intellectual disability syndrome 1. Alopecia-mental retardation syndrome 1 (APMR1) [MIM:203650] 186,620,776(+) G/Ap.Arg317His
NM_001622.4(AHSG):c.950G>A (p.Arg317His) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AHSG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AHSG Gene

Variant ID Type Subtype PubMed ID
esv2759206 CNV loss 17122850
nsv508974 CNV insertion 20534489

Variation tolerance for AHSG Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 39.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AHSG Gene

Human Gene Mutation Database (HGMD)
AHSG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHSG
Leiden Open Variation Database (LOVD)
AHSG

SNP Genotyping and Copy Number Assays for research

Disorders for AHSG Gene

MalaCards: The human disease database

(33) MalaCards diseases for AHSG Gene - From: CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AHSG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FETUA_HUMAN
  • Alopecia-mental retardation syndrome 1 (APMR1) [MIM:203650]: A rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe mental retardation. {ECO:0000269 PubMed:28054173}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for AHSG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AHSG: view

No data available for Genatlas for AHSG Gene

Publications for AHSG Gene

  1. Structure of the gene encoding human alpha 2-HS glycoprotein (AHSG). (PMID: 9322749) Osawa M … Takeichi S (Gene 1997) 2 3 4 22
  2. Association of AHSG with alopecia and mental retardation (APMR) syndrome. (PMID: 28054173) Reza Sailani M … Snyder MP (Human genetics 2017) 3 4 72
  3. Association of AHSG gene polymorphisms with fetuin-A plasma levels and cardiovascular diseases in the EPIC-Potsdam study. (PMID: 20031641) Fisher E … Weikert C (Circulation. Cardiovascular genetics 2009) 3 22 40
  4. Is fetuin-A/alpha2-Heremans-Schmid glycoprotein associated with the metabolic syndrome in patients with chronic kidney disease? (PMID: 18337634) Axelsson J … Stenvinkel P (American journal of nephrology 2008) 3 22 40
  5. AHSG tag single nucleotide polymorphisms associate with type 2 diabetes and dyslipidemia: studies of metabolic traits in 7,683 white Danish subjects. (PMID: 18316360) Andersen G … Pedersen O (Diabetes 2008) 3 22 40

ExternalLinks

View latest publications for AHSG gene in Mastermind

Products for AHSG Gene

  • Addgene plasmids for AHSG

Sources for AHSG Gene