HHLA2
HHLA2 member of B7 family
Summary
This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62266174 | 3:108,019,057 | T/G | upstream gene variant | — |
| rs775538346 | 3:108,070,691 | C/G | — | uncertain significance |
| rs199766070 | 3:108,072,287 | G/T | — | uncertain significance |
| rs770873611 | 3:108,072,324 | G/A | — | likely benign |
| rs375560061 | 3:108,072,481 | G/T | — | uncertain significance |
| rs11711542 | 3:108,072,801 | C/T | intron variant | — |
| rs757473905 | 3:108,074,025 | T/C | — | uncertain significance |
| rs372523714 | 3:108,074,030 | A/G | — | uncertain significance |
| rs2081863518 | 3:108,074,040 | C/T | — | uncertain significance |
| rs374073757 | 3:108,074,095 | G/A | — | uncertain significance |
| rs201761554 | 3:108,074,105 | G/C | — | uncertain significance |
| rs532778766 | 3:108,074,129 | A/G | — | uncertain significance |
| rs1372731723 | 3:108,074,151 | G/A | — | uncertain significance |
| rs777243668 | 3:108,074,178 | T/C | — | uncertain significance |
| rs1390149171 | 3:108,074,184 | A/T | — | uncertain significance |
| rs776405465 | 3:108,074,213 | C/T | — | uncertain significance |
| rs552451858 | 3:108,074,220 | C/T | — | uncertain significance |
| rs372052636 | 3:108,076,702 | A/G | — | uncertain significance |
| rs755783641 | 3:108,076,720 | G/A | — | uncertain significance |
| rs1226431748 | 3:108,076,822 | T/A | — | uncertain significance |
| rs763240670 | 3:108,076,859 | A/G | — | uncertain significance |
| rs748913138 | 3:108,076,865 | G/A | — | uncertain significance |
| rs1266803839 | 3:108,076,895 | A/G | — | uncertain significance |
| rs369072494 | 3:108,076,922 | A/G | — | uncertain significance |
| rs550836375 | 3:108,081,278 | G/A | — | uncertain significance |
| rs1039979198 | 3:108,095,361 | G/T | — | uncertain significance |
| rs371642037 | 3:108,095,366 | C/T | — | uncertain significance |
| rs762903104 | 3:108,095,391 | G/A | — | uncertain significance |
| rs113421805 | 3:108,097,009 | A/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.