HNMT
histamine N-methyltransferase
Summary
In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375610973 | 2:138,722,064 | G/A | — | uncertain significance |
| rs538887122 | 2:138,722,106 | T/C | — | likely benign |
| rs943981752 | 2:138,722,186 | G/A | — | uncertain significance |
| rs201383089 | 2:138,722,203 | C/A | — | likely benign |
| rs186485844 | 2:138,724,485 | G/A | — | uncertain significance |
| rs767467449 | 2:138,727,740 | G/C | — | uncertain significance |
| rs1573640924 | 2:138,727,741 | A/T | — | likely benign |
| rs199629619 | 2:138,727,746 | C/T | — | uncertain significance |
| rs758252808 | 2:138,727,776 | G/A | missense variant | pathogenic |
| rs529181997 | 2:138,727,777 | C/T | — | likely benign |
| rs746889203 | 2:138,727,782 | G/A | — | uncertain significance |
| rs376421030 | 2:138,738,829 | G/A | — | likely benign |
| rs17583889 | 2:138,746,039 | C/A | intron variant | — |
| rs186818035 | 2:138,752,855 | G/T | intron variant | — |
| rs145871487 | 2:138,753,871 | C/G | intron variant | — |
| rs1441888966 | 2:138,758,532 | C/T | — | uncertain significance |
| rs767244384 | 2:138,758,573 | T/C | — | likely benign |
| rs766201149 | 2:138,759,647 | G/T | — | uncertain significance |
| rs11558538 | 2:138,759,649 | C/T | missense variant | risk factor |
| rs755441595 | 2:138,759,652 | C/T | — | uncertain significance |
| rs528223406 | 2:138,759,660 | G/A | — | conflicting classifications of pathogenicity |
| rs779158046 | 2:138,759,666 | G/A | — | likely benign |
| rs2467367362 | 2:138,759,676 | C/T | — | uncertain significance |
| rs200508858 | 2:138,759,689 | G/A | — | benign |
| rs1681192389 | 2:138,759,691 | C/G | — | uncertain significance |
| rs762749102 | 2:138,762,726 | C/T | — | uncertain significance |
| rs770593964 | 2:138,762,728 | A/G | — | likely benign |
| rs200015097 | 2:138,762,747 | C/T | — | uncertain significance |
| rs764526734 | 2:138,771,355 | C/T | — | uncertain significance |
| rs1573685386 | 2:138,771,360 | A/G | — | uncertain significance |
| rs143554428 | 2:138,771,379 | C/T | — | likely benign |
| rs148053879 | 2:138,771,388 | C/T | — | likely benign |
| rs11569725 | 2:138,771,415 | T/C | — | likely benign |
| rs2467386492 | 2:138,771,421 | A/G | — | likely benign |
| rs745756308 | 2:138,771,444 | T/C | missense variant | pathogenic |
| rs112342775 | 2:138,771,571 | T/C | — | likely benign |
| rs1228508556 | 2:138,771,642 | A/G | — | uncertain significance |
| rs562176306 | 2:138,771,672 | C/T | — | uncertain significance |
| rs113138471 | 2:138,771,684 | T/C | — | likely benign |
| rs1316681747 | 2:138,771,697 | A/T | — | likely benign |
| rs1050891 | 2:138,771,760 | A/G | 3 prime UTR variant | — |
| rs115000888 | 2:138,774,145 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.