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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HP (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3240
Official gene symbolHP
Full namehaptoglobin
Aliases,BP,HP2ALPHA2,HPA1S,MGC111141,
Gene summaryThis gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
LocationChromosome: 16   Locus: 16q22.1
Gene position72088508 - 72094955  Map Viewer
Gene orientationplus
Gene size6448 bp
Gene sequence
OMIM ID140100