Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 197
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol AHSG   Gene   UCSC   Ensembl
Aliases A2HS, AHS, FETUA, HSGA
Gene name alpha 2-HS glycoprotein
Alternate names alpha-2-HS-glycoprotein, alpha-2-Z-globulin, ba-alpha-2-glycoprotein, fetuin-A,
Gene location 3q27.3 (186612927: 186621317)     Exons: 7     NC_000003.12
Gene summary(Entrez) Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008]
OMIM 138680

SNPs

 rs4917

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000665.2   g.186619924T>C
NC_000003.11   g.186337713T>C
NC_000003.12   g.186619924T>C
NG_011436.1   g.11864T>C
NM_001354571.1   c.746T>C
NM_001354572.1   c.740T>C
NM_001354573.1   c.676-662T>C
NM_001622.2   c.743T>C
NM_001622.3   c.743T>C
NP_001341500.1   p.Met249Thr
NP_001341501.1   p.Met247Thr
NP_001613.2   p.Met248Thr
Clinical Significance: other

rs4918

Strand:    Allele origin: G(germline)/C(germline)  Allele change: A/C/G   Mutation type: snp

CM000665.2   g.186620593G>A
CM000665.2   g.186620593G>C
NC_000003.11   g.186338382G>C
NC_000003.12   g.186620593G>A
NC_000003.12   g.186620593G>C
NG_011436.1   g.12533G>A
NG_011436.1   g.12533G>C
NM_001354571.1   c.770G>A
NM_001354571.1   c.770G>C
NM_001354572.1   c.764G>A
NM_001354572.1   c.764G>C
NM_001354573.1   c.683G>A
NM_001354573.1   c.683G>C
NM_001622.2   c.767G>C
NM_001622.3   c.767G>A
NM_001622.3   c.767G>C
NP_001341500.1   p.Ser257Asn
NP_001341500.1   p.Ser257Thr
NP_001341501.1   p.Ser255Asn
NP_001341501.1   p.Ser255Thr
NP_001341502.1   p.Ser228Asn
NP_001341502.1   p.Ser228Thr
NP_001613.2   p.Ser256Asn
NP_001613.2   p.Ser256Thr
XP_016861329.1   p.Ser228Asn
XP_016861329.1   p.Ser228Thr
Clinical Significance: other

Protein Summary
Protein general information P02765  

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]

Length: 367  Mass: 39,325

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 MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSG
ELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCP
LLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEK
QYGFCKATLSEKLGGAEVAVTCTVFQTQPVTSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVL
LAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV
Structural information
Protein Domains
 Cystatin (27-133)
Cystatin (144-255)
Interpro:  IPR000010 IPR025760 IPR001363
Prosite:   PS51529 PS01254 PS01255

Pfam:  		 PF00031
CDD:   cd00042
MINT:   5004009
STRING:   ENSP00000393887;
Other Databases GeneCards:  AHSG;  Malacards:  AHSG

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001501 skeletal system developme
nt
 NAS biological_process
GO:0001503 ossification
 IEA biological_process
GO:0002576 platelet degranulation
 TAS biological_process
GO:0004866 endopeptidase inhibitor a
ctivity
 IBA molecular_function
GO:0004869 cysteine-type endopeptida
se inhibitor activity
 IEA molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 NAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0006907 pinocytosis
 NAS biological_process
GO:0006953 acute-phase response
 IDA biological_process
GO:0010951 negative regulation of en
dopeptidase activity
 IEA biological_process
GO:0019210 kinase inhibitor activity
 NAS molecular_function
GO:0030500 regulation of bone minera
lization
 NAS biological_process
GO:0030502 negative regulation of bo
ne mineralization
 ISS biological_process
GO:0031012 extracellular matrix
 IBA cellular_component
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0042326 negative regulation of ph
osphorylation
 IEA biological_process
GO:0046627 negative regulation of in
sulin receptor signaling
pathway
 NAS biological_process
GO:0050727 regulation of inflammator
y response
 IMP biological_process
GO:0050766 positive regulation of ph
agocytosis
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070168 negative regulation of bi
omineral tissue developme
nt
 IBA biological_process
GO:0072562 blood microparticle
 IDA cellular_component
GO:0001501 skeletal system developme
nt
 NAS biological_process
GO:0001503 ossification
 IEA biological_process
GO:0002576 platelet degranulation
 TAS biological_process
GO:0004866 endopeptidase inhibitor a
ctivity
 IBA molecular_function
GO:0004869 cysteine-type endopeptida
se inhibitor activity
 IEA molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 NAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0006907 pinocytosis
 NAS biological_process
GO:0006953 acute-phase response
 IDA biological_process
GO:0010951 negative regulation of en
dopeptidase activity
 IEA biological_process
GO:0019210 kinase inhibitor activity
 NAS molecular_function
GO:0030500 regulation of bone minera
lization
 IEA biological_process
GO:0030500 regulation of bone minera
lization
 NAS biological_process
GO:0030502 negative regulation of bo
ne mineralization
 IEA biological_process
GO:0030502 negative regulation of bo
ne mineralization
 ISS biological_process
GO:0031012 extracellular matrix
 IBA cellular_component
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0042326 negative regulation of ph
osphorylation
 IEA biological_process
GO:0046627 negative regulation of in
sulin receptor signaling
pathway
 NAS biological_process
GO:0050727 regulation of inflammator
y response
 IMP biological_process
GO:0050766 positive regulation of ph
agocytosis
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070168 negative regulation of bi
omineral tissue developme
nt
 IBA biological_process
GO:0072562 blood microparticle
 IDA cellular_component
GO:0001501 skeletal system developme
nt
 NAS biological_process
GO:0002576 platelet degranulation
 TAS biological_process
GO:0004866 endopeptidase inhibitor a
ctivity
 IBA molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 NAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0006907 pinocytosis
 NAS biological_process
GO:0006953 acute-phase response
 IDA biological_process
GO:0019210 kinase inhibitor activity
 NAS molecular_function
GO:0030500 regulation of bone minera
lization
 NAS biological_process
GO:0030502 negative regulation of bo
ne mineralization
 ISS biological_process
GO:0031012 extracellular matrix
 IBA cellular_component
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0046627 negative regulation of in
sulin receptor signaling
pathway
 NAS biological_process
GO:0050727 regulation of inflammator
y response
 IMP biological_process
GO:0050766 positive regulation of ph
agocytosis
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070168 negative regulation of bi
omineral tissue developme
nt
 IBA biological_process
GO:0072562 blood microparticle
 IDA cellular_component

Diseases

Associated diseases References
Alzheimer's disease PMID: 16002217
Atherosclerosis PMID: 17062776
Diabetes PMID: 16046317
Endometriosis PMID: 10433073
Lipolysis PMID: 16024912
Metabolic syndrome PMID: 18337634
Obesity PMID: 15806395
Osteoporosis PMID: 14667137
Polycystic ovary syndrome (PCOS) PMID: 25301487
Uterine leiomyomata INFBASE8738720
Endometriosis INFBASE8738720

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
10433073 Endometrio
sis
Women with endo
metriosis (n =
24-60), women w
ithout endometr
iosis (n = 35-4
9)
 alpha 2-HS glycoprotein
transferrin
 Show abstract
9764347 Endometrio
sis
228 (105 normal
women, 123 pat
ients with acti
ve endometriosi
s)
 Transferrin
alpha 2-HS glycoprotein
 Show abstract
8738720 Endometrio
sis
103 (46 women w
ith endometrios
is, 4 women wit
h uterine leiom
yomata, 4 with
pelvic adhesion
s, 3 with repea
t Cesarean sect
ions (condition
s that coexist
with or predisp
ose to endometr
iosis), 46 cont
rols)
 alpha 2-HS-glycoprotein
transferrin
 Show abstract