HEPACAM2
HEPACAM family member 2
Summary
This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs761622948 | 7:92,821,573 | T/C | — | uncertain significance |
| rs543094040 | 7:92,821,639 | G/A | — | uncertain significance |
| rs2535531079 | 7:92,821,661 | C/A | — | uncertain significance |
| rs1362705396 | 7:92,825,185 | T/A | — | uncertain significance |
| rs145244580 | 7:92,825,188 | C/T | missense variant | — |
| rs778385614 | 7:92,826,710 | A/C | — | uncertain significance |
| rs200059437 | 7:92,826,836 | C/T | — | uncertain significance |
| rs781228026 | 7:92,826,855 | A/C | — | uncertain significance |
| rs2535544394 | 7:92,826,890 | A/G | — | uncertain significance |
| rs868854412 | 7:92,826,904 | C/G | — | uncertain significance |
| rs146472168 | 7:92,837,896 | C/T | — | uncertain significance |
| rs759331669 | 7:92,837,943 | A/G | — | uncertain significance |
| rs1794092431 | 7:92,837,962 | A/C | — | uncertain significance |
| rs1794100939 | 7:92,838,112 | C/A | — | uncertain significance |
| rs781343055 | 7:92,838,145 | C/A | — | uncertain significance |
| rs140071737 | 7:92,844,813 | T/C | — | uncertain significance |
| rs35608547 | 7:92,844,819 | G/A | — | benign |
| rs760917082 | 7:92,844,833 | G/A | — | likely benign |
| rs137979275 | 7:92,844,882 | G/C | — | uncertain significance |
| rs2535591218 | 7:92,844,885 | A/G | — | uncertain significance |
| rs149474011 | 7:92,844,894 | C/G | — | uncertain significance |
| rs773053477 | 7:92,844,899 | C/T | — | uncertain significance |
| rs2535591496 | 7:92,844,929 | G/A | — | uncertain significance |
| rs2535591593 | 7:92,844,941 | A/G | — | uncertain significance |
| rs377487541 | 7:92,844,951 | C/T | — | uncertain significance |
| rs1584354320 | 7:92,848,450 | G/A | — | likely benign |
| rs139218067 | 7:92,848,480 | C/T | — | uncertain significance |
| rs143419191 | 7:92,848,522 | G/A | — | uncertain significance |
| rs374504388 | 7:92,848,540 | G/A | — | uncertain significance |
| rs2535603061 | 7:92,848,640 | C/G | — | uncertain significance |
| rs557473967 | 7:92,848,671 | T/G | — | uncertain significance |
| rs769243743 | 7:92,848,714 | C/T | — | likely benign |
| rs761336938 | 7:92,848,722 | A/T | — | uncertain significance |
| rs1273402841 | 7:92,848,723 | C/A | — | uncertain significance |
| rs193921119 | 7:92,848,805 | C/T | — | uncertain significance |
| rs112331885 | 7:92,855,237 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.