HRG Chromosome 3
Histidine rich glycoprotein
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What This Gene Does
This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
Cystatins, type 4
Locus Type
gene with protein product
Location
3q27.3
Ensembl
ENSG00000113905
Associated Conditions (4)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Thrombus
HRG-related disorder
Familial early-onset deep venous thrombosis
Key Variants
RS114895145
Conflicting classifications of pathogenicity
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Thrombus, HRG-related disorder
Health Risk
RS2229331
Conflicting classifications of pathogenicity
HRG-related disorder, HRG-related disorder
Health Risk
RS563237107
Conflicting classifications of pathogenicity
Health Risk
RS121918122
Pathogenic
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Health Risk
RS761776963
Pathogenic/Likely pathogenic
Familial early-onset deep venous thrombosis, Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Familial early-onset deep venous thrombosis
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114895145 | Health Risk | Conflicting classifications of pathogenicity | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Thrombus, HRG-related disorder |
| RS2229331 | Health Risk | Conflicting classifications of pathogenicity | HRG-related disorder, HRG-related disorder |
| RS563237107 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121918122 | Health Risk | Pathogenic | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency |
| RS761776963 | Health Risk | Pathogenic/Likely pathogenic | Familial early-onset deep venous thrombosis, Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Familial early-onset deep venous thrombosis |