HP
haptoglobin
Summary
This 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. The protein encoded also exhibits antimicrobial activity against bacteria. 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, Oct 2014]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs192626533 | 16:72,087,751 | C/T | — | — |
| rs5470 | 16:72,088,421 | C/T | — | — |
| rs5471 | 16:72,088,461 | A/C | regulatory region variant | affects |
| rs8062041 | 16:72,088,964 | C/T | intron variant | — |
| rs199564947 | 16:72,090,062 | C/A | — | benign |
| rs200346377 | 16:72,090,073 | G/C | — | uncertain significance |
| rs753062127 | 16:72,090,100 | C/A | — | uncertain significance |
| rs201773535 | 16:72,090,452 | G/A | — | benign |
| rs1319691462 | 16:72,091,308 | G/A | — | likely benign |
| rs1454302593 | 16:72,091,311 | A/G | — | likely benign |
| rs137853233 | 16:72,091,314 | A/G | missense variant | benign |
| rs3794693 | 16:72,092,390 | C/G | — | — |
| rs3794694 | 16:72,092,509 | C/G | upstream gene variant | — |
| rs11550482 | 16:72,093,034 | A/G | — | uncertain significance |
| rs373148115 | 16:72,094,006 | G/A | — | likely benign |
| rs562787662 | 16:72,094,032 | C/G | — | uncertain significance |
| rs368624883 | 16:72,094,050 | G/A | — | uncertain significance |
| rs2041519284 | 16:72,094,080 | G/A | — | uncertain significance |
| rs375137689 | 16:72,094,118 | A/T | — | uncertain significance |
| rs588482 | 16:72,094,132 | T/G | — | likely benign |
| rs750845655 | 16:72,094,227 | C/T | — | uncertain significance |
| rs2507018879 | 16:72,094,251 | A/C | — | uncertain significance |
| rs192653057 | 16:72,094,276 | T/G | — | likely benign |
| rs765153219 | 16:72,094,286 | C/A | — | uncertain significance |
| rs104894517 | 16:72,094,308 | T/C | missense variant | affects |
| rs1255427885 | 16:72,094,327 | A/G | — | likely benign |
| rs5475 | 16:72,094,348 | A/G | — | benign |
| rs137853234 | 16:72,094,362 | T/C | missense variant | — |
| rs189039907 | 16:72,094,379 | G/A | — | uncertain significance |
| rs200200966 | 16:72,094,398 | G/A | — | uncertain significance |
| rs754170747 | 16:72,094,400 | G/A | — | uncertain significance |
| rs201130844 | 16:72,094,425 | G/A | — | uncertain significance |
| rs2041528516 | 16:72,094,454 | C/A | — | uncertain significance |
| rs112933438 | 16:72,094,525 | C/T | — | benign |
| rs747162433 | 16:72,094,538 | C/T | — | uncertain significance |
| rs201546776 | 16:72,094,539 | C/T | — | uncertain significance |
| rs111837860 | 16:72,094,573 | T/C | — | likely benign |
| rs758225033 | 16:72,094,612 | A/G | — | likely benign |
| rs189688321 | 16:72,094,627 | C/T | — | likely benign |
| rs149627591 | 16:72,094,651 | T/C | — | likely benign |
| rs5477 | 16:72,094,654 | C/T | — | benign |
| rs374531828 | 16:72,094,655 | G/A | — | uncertain significance |
| rs594359 | 16:72,094,678 | T/C | — | benign |
| rs371304177 | 16:72,094,680 | C/G | — | uncertain significance |
| rs2507020626 | 16:72,094,713 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.