P4HA2
prolyl 4-hydroxylase subunit alpha 2
Summary
This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138013404 | 5:131,528,725 | C/T | — | uncertain significance |
| rs201773917 | 5:131,528,767 | T/C | — | uncertain significance |
| rs149540876 | 5:131,530,663 | C/T | — | uncertain significance |
| rs201287088 | 5:131,530,679 | C/T | — | uncertain significance |
| rs116723404 | 5:131,531,097 | G/T | — | benign |
| rs141989159 | 5:131,533,898 | C/T | — | likely benign |
| rs200907354 | 5:131,533,921 | C/T | — | uncertain significance |
| rs2531692096 | 5:131,533,928 | C/T | — | uncertain significance |
| rs929498914 | 5:131,533,956 | C/G | — | uncertain significance |
| rs150432961 | 5:131,533,963 | T/C | — | likely benign |
| rs202230111 | 5:131,534,032 | T/C | — | likely benign |
| rs2531697795 | 5:131,534,614 | A/T | — | uncertain significance |
| rs73788824 | 5:131,534,630 | G/A | — | likely benign |
| rs144253110 | 5:131,539,462 | T/C | — | likely benign |
| rs202073046 | 5:131,539,491 | G/A | — | uncertain significance |
| rs754355833 | 5:131,539,512 | C/T | — | uncertain significance |
| rs765426315 | 5:131,539,523 | T/C | — | uncertain significance |
| rs147398523 | 5:131,539,797 | C/A | — | uncertain significance |
| rs200647661 | 5:131,539,798 | G/A | — | likely benign |
| rs201956342 | 5:131,539,800 | C/T | — | uncertain significance |
| rs2531724016 | 5:131,539,823 | T/C | — | uncertain significance |
| rs759847698 | 5:131,539,830 | C/T | — | uncertain significance |
| rs128738 | 5:131,540,875 | G/T | downstream gene variant | — |
| rs143480300 | 5:131,543,413 | G/A | — | likely benign |
| rs201974946 | 5:131,543,455 | G/A | — | likely benign |
| rs141800760 | 5:131,543,541 | G/A | — | uncertain significance |
| rs2531745307 | 5:131,543,564 | T/C | — | uncertain significance |
| rs199899764 | 5:131,543,571 | G/A | — | uncertain significance |
| rs766882616 | 5:131,544,848 | C/G | — | uncertain significance |
| rs758872875 | 5:131,544,863 | C/T | missense variant | pathogenic |
| rs146303839 | 5:131,544,952 | G/T | — | uncertain significance |
| rs749941444 | 5:131,544,958 | T/C | — | uncertain significance |
| rs200779370 | 5:131,544,992 | G/A | — | uncertain significance |
| rs758816951 | 5:131,544,998 | T/A | — | uncertain significance |
| rs138182231 | 5:131,545,003 | C/G | — | likely benign |
| rs757687448 | 5:131,545,006 | G/A | — | uncertain significance |
| rs781294158 | 5:131,545,009 | C/T | — | uncertain significance |
| rs201223748 | 5:131,545,991 | C/T | — | uncertain significance |
| rs200355999 | 5:131,545,994 | C/T | — | uncertain significance |
| rs771957451 | 5:131,546,012 | C/T | — | uncertain significance |
| rs148740080 | 5:131,546,032 | G/C | — | likely benign |
| rs369753157 | 5:131,546,038 | A/C | — | likely benign |
| rs142426918 | 5:131,546,041 | A/G | — | likely benign |
| rs377044728 | 5:131,546,166 | G/A | — | uncertain significance |
| rs2531767756 | 5:131,546,210 | T/C | — | uncertain significance |
| rs200399940 | 5:131,549,619 | C/A | — | likely benign |
| rs764211125 | 5:131,549,659 | T/C | missense variant | pathogenic |
| rs1753508416 | 5:131,549,732 | G/C | — | uncertain significance |
| rs1402223934 | 5:131,549,733 | G/T | — | uncertain significance |
| rs34435009 | 5:131,549,739 | G/A | — | likely benign |
| rs376469757 | 5:131,552,881 | G/A | — | likely benign |
| rs2126618029 | 5:131,552,952 | A/T | — | uncertain significance |
| rs113860089 | 5:131,552,954 | C/A | — | likely benign |
| rs2531805931 | 5:131,552,977 | G/A | — | uncertain significance |
| rs61739875 | 5:131,552,995 | C/A | — | likely benign |
| rs777712107 | 5:131,553,039 | C/G | — | uncertain significance |
| rs2531809804 | 5:131,553,460 | A/G | — | uncertain significance |
| rs781242031 | 5:131,553,503 | C/T | — | uncertain significance |
| rs139531777 | 5:131,554,234 | G/A | — | benign |
| rs1754238300 | 5:131,554,256 | C/T | — | uncertain significance |
| rs202229926 | 5:131,554,257 | G/A | — | likely benign |
| rs371157959 | 5:131,554,295 | G/T | — | uncertain significance |
| rs373491966 | 5:131,554,306 | A/G | — | uncertain significance |
| rs186675820 | 5:131,559,456 | T/C | intron variant | — |
| rs72793280 | 5:131,562,900 | C/T | regulatory region variant | — |
| rs113823725 | 5:131,563,501 | C/T | — | — |
| rs112688207 | 5:131,564,636 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.