ITIH2
inter-alpha-trypsin inhibitor heavy chain 2
Summary
The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73621235 | 10:7,743,352 | T/C | upstream gene variant | — |
| rs113808467 | 10:7,743,781 | T/C | upstream gene variant | — |
| rs113241510 | 10:7,743,940 | T/C | upstream gene variant | — |
| rs73621240 | 10:7,745,021 | G/A | regulatory region variant | — |
| rs143303387 | 10:7,745,452 | T/C | — | uncertain significance |
| rs267602582 | 10:7,745,455 | G/A | — | uncertain significance |
| rs1023526089 | 10:7,747,078 | A/T | — | uncertain significance |
| rs146658749 | 10:7,747,125 | G/A | — | uncertain significance |
| rs773227319 | 10:7,747,135 | G/A | — | likely benign |
| rs113889195 | 10:7,749,598 | A/T | intron variant | — |
| rs111297004 | 10:7,749,748 | G/A | intron variant | — |
| rs150146365 | 10:7,751,018 | A/G | — | uncertain significance |
| rs761768242 | 10:7,751,042 | C/T | — | uncertain significance |
| rs146616186 | 10:7,751,123 | C/T | — | uncertain significance |
| rs757737026 | 10:7,751,130 | G/C | — | uncertain significance |
| rs749501304 | 10:7,751,145 | A/G | — | uncertain significance |
| rs113248191 | 10:7,751,864 | T/C | intron variant | — |
| rs73621263 | 10:7,752,264 | G/A | intron variant | — |
| rs4298806 | 10:7,753,089 | T/G | intron variant | — |
| rs4463754 | 10:7,753,366 | A/G | intron variant | — |
| rs7073297 | 10:7,754,168 | C/G | — | — |
| rs1834814501 | 10:7,755,199 | G/C | — | uncertain significance |
| rs377111707 | 10:7,759,596 | G/A | — | uncertain significance |
| rs199888149 | 10:7,759,621 | C/T | — | uncertain significance |
| rs369417932 | 10:7,759,659 | G/A | — | uncertain significance |
| rs375764473 | 10:7,759,731 | C/T | — | uncertain significance |
| rs111844913 | 10:7,761,745 | A/G | — | — |
| rs957576006 | 10:7,762,867 | C/T | — | uncertain significance |
| rs201601009 | 10:7,763,667 | G/A | — | uncertain significance |
| rs200578301 | 10:7,763,678 | G/A | — | uncertain significance |
| rs1834906239 | 10:7,763,722 | G/T | — | uncertain significance |
| rs6602268 | 10:7,764,233 | A/G | intron variant | — |
| rs1236331216 | 10:7,765,445 | C/A | — | uncertain significance |
| rs113718938 | 10:7,766,376 | A/G | intron variant | — |
| rs80167373 | 10:7,766,581 | G/A | intron variant | — |
| rs1157021386 | 10:7,768,934 | A/G | — | uncertain significance |
| rs541730267 | 10:7,768,953 | C/T | — | uncertain significance |
| rs760594995 | 10:7,769,054 | T/C | — | uncertain significance |
| rs146198523 | 10:7,769,666 | G/A | — | uncertain significance |
| rs141611690 | 10:7,769,698 | A/G | — | uncertain significance |
| rs1291646392 | 10:7,769,708 | T/C | — | uncertain significance |
| rs1275193012 | 10:7,769,717 | C/A | — | uncertain significance |
| rs139479101 | 10:7,769,749 | G/A | — | uncertain significance |
| rs7087317 | 10:7,770,716 | T/C | intron variant | — |
| rs147442256 | 10:7,771,947 | G/A | — | uncertain significance |
| rs751096539 | 10:7,773,808 | G/A | — | uncertain significance |
| rs34533278 | 10:7,773,836 | A/G | — | likely benign |
| rs760720083 | 10:7,773,848 | C/A | — | uncertain significance |
| rs200927721 | 10:7,773,849 | G/A | — | uncertain significance |
| rs779849424 | 10:7,773,949 | C/T | — | uncertain significance |
| rs41290291 | 10:7,774,317 | T/C | missense variant | — |
| rs369600071 | 10:7,774,343 | G/A | — | uncertain significance |
| rs1381527216 | 10:7,774,369 | C/G | — | uncertain significance |
| rs12257143 | 10:7,774,728 | T/C | intron variant | — |
| rs374077524 | 10:7,776,888 | C/A | — | uncertain significance |
| rs202031792 | 10:7,776,968 | C/T | — | uncertain significance |
| rs566494066 | 10:7,777,009 | C/T | — | uncertain significance |
| rs541896486 | 10:7,777,010 | G/T | — | uncertain significance |
| rs776115258 | 10:7,777,015 | C/G | — | uncertain significance |
| rs763144535 | 10:7,777,019 | C/T | — | uncertain significance |
| rs751835115 | 10:7,777,024 | G/A | — | uncertain significance |
| rs1256831703 | 10:7,777,027 | C/T | — | uncertain significance |
| rs1346716237 | 10:7,777,048 | T/C | — | uncertain significance |
| rs184029811 | 10:7,777,773 | T/C | intron variant | — |
| rs188916946 | 10:7,780,655 | G/A | — | uncertain significance |
| rs2490953772 | 10:7,785,144 | A/G | — | uncertain significance |
| rs371641777 | 10:7,785,183 | C/T | — | uncertain significance |
| rs149235348 | 10:7,786,048 | T/C | — | uncertain significance |
| rs200726415 | 10:7,786,103 | C/A | — | uncertain significance |
| rs1835153573 | 10:7,786,164 | A/G | — | uncertain significance |
| rs2490955385 | 10:7,786,189 | G/T | — | uncertain significance |
| rs200241696 | 10:7,786,234 | C/T | — | likely benign |
| rs147229416 | 10:7,786,236 | A/G | — | uncertain significance |
| rs775154335 | 10:7,786,756 | T/G | — | uncertain significance |
| rs148653365 | 10:7,786,772 | G/C | — | uncertain significance |
| rs2490956394 | 10:7,786,789 | C/T | — | uncertain significance |
| rs1216219077 | 10:7,786,816 | T/C | — | uncertain significance |
| rs375927769 | 10:7,786,917 | G/A | — | uncertain significance |
| rs141260366 | 10:7,788,578 | G/C | — | uncertain significance |
| rs774547862 | 10:7,788,592 | A/G | — | uncertain significance |
| rs766093294 | 10:7,788,659 | C/G | — | uncertain significance |
| rs980941583 | 10:7,788,666 | A/G | — | uncertain significance |
| rs12257290 | 10:7,789,904 | C/T | downstream gene variant | — |
| rs370269446 | 10:7,791,173 | C/T | — | uncertain significance |
| rs371895834 | 10:7,791,230 | G/T | — | uncertain significance |
| rs1367119820 | 10:7,791,236 | T/C | — | uncertain significance |
| rs146780943 | 10:7,791,272 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.