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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]
AHSG (Alpha 2-HS Glycoprotein) is a Protein Coding gene. Diseases associated with AHSG include Alopecia-Mental Retardation Syndrome 1 and Alopecia-Intellectual Disability Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Signaling by BMP. 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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
2 | Innate Immune System |
.61
|
|
3 | Glucose / Energy Metabolism | ||
4 | Signaling by BMP |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Zinc | Approved, Investigational | Pharma | Target | 1594 | ||
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||
SP5: | |||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AHSG 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AHSG 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AHSG 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ahsg 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ahsg 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | AHSG 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AHSG 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AHSG 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AHSG 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ahsg 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ahsg 30 |
|
||
AHSG 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
728698 | Benign: not provided | 186,613,349(+) | C/T | MISSENSE_VARIANT | |
737830 | Benign: not provided | 186,617,180(+) | C/T | INTRON_VARIANT | |
747405 | Benign: not provided | 186,620,608(+) | C/G | MISSENSE_VARIANT | |
753004 | Likely Benign: not provided | 186,620,903(+) | G/C | SYNONYMOUS_VARIANT | |
774853 | Benign: not provided | 186,620,845(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759206 | CNV | loss | 17122850 |
nsv508974 | CNV | insertion | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alopecia-mental retardation syndrome 1 |
|
|
alopecia-intellectual disability syndrome |
|
|
alopecia-mental retardation syndrome |
|
|
alopecia |
|
|
epstein-barr virus hepatitis |
|
|