Gene Gene information from NCBI Gene database.
Entrez ID 3273
Gene name Histidine rich glycoprotein
Gene symbol HRG
Synonyms (NCBI Gene)
HPRGHRGPTHPH11
Chromosome 3
Chromosome location 3q27.3
Summary 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 a
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT1054641 hsa-miR-140-5p CLIP-seq
MIRT1054642 hsa-miR-3133 CLIP-seq
MIRT1054643 hsa-miR-3545-5p CLIP-seq
MIRT1054644 hsa-miR-4460 CLIP-seq
MIRT1054645 hsa-miR-4511 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0002839 Process Positive regulation of immune response to tumor cell IBA
GO:0002839 Process Positive regulation of immune response to tumor cell IDA 21215706
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142640 5181 ENSG00000113905
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04196
Protein name Histidine-rich glycoprotein (Histidine-proline-rich glycoprotein) (HPRG)
Protein function Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00031 Cystatin 18 107 Cystatin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in macrophages and in malignant cells. Expressed by the liver and secreted in plasma (at protein level). {ECO:0000269|PubMed:14744774, ECO:0000269|PubMed:19903770, ECO:0000269|PubMed:21215706}.
Sequence
MKALIAALLLITLQYSCAVSPTDCSAVEPEAEKALDLINKRRRDGYLFQLLRIADAHLDR
VENTTVYYLVLDVQESDCSVLSRKYWNDCEPPDSRRPSEIVIGQCKV
IATRHSHESQDLR
VIDFNCTTSSVSSALANTKDSPVLIDFFEDTERYRKQANKALEKYKEENDDFASFRVDRI
ERVARVRGGEGTGYFVDFSVRNCPRHHFPRHPNVFGFCRADLFYDVEALDLESPKNLVIN
CEVFDPQEHENINGVPPHLGHPFHWGGHERSSTTKPPFKPHGSRDHHHPHKPHEHGPPPP
PDERDHSHGPPLPQGPPPLLPMSCSSCQHATFGTNGAQRHSHNNNSSDLHPHKHHSHEQH
PHGHHPHAHHPHEHDTHRQHPHGHHPHGHHPHGHHPHGHHPHGHHPHCHDFQDYGPCDPP
PHNQGHCCHGHGPPPGHLRRRGPGKGPRPFHCRQIGSVYRLPPLRKGEVLPLPEANFPSF
PLPHHKHPLKPDNQPFPQSVSESCPGKFKSGFPQVSMFFTHTFPK
Sequence length 525
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Dissolution of Fibrin Clot
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial early-onset deep venous thrombosis Likely pathogenic; Pathogenic rs761776963 RCV000509067
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Pathogenic; Likely pathogenic rs121918122, rs761776963 RCV000016049
RCV000627095
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HRG-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations