MEP1B
meprin A subunit beta
Summary
Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144242131 | 18:29,769,910 | G/A | upstream gene variant | — |
| rs370239439 | 18:29,770,086 | T/C | — | uncertain significance |
| rs534588779 | 18:29,772,648 | A/G | — | uncertain significance |
| rs150261265 | 18:29,772,887 | T/C | downstream gene variant | — |
| rs778499512 | 18:29,775,434 | T/G | — | uncertain significance |
| rs2510864913 | 18:29,782,879 | C/T | — | uncertain significance |
| rs201192031 | 18:29,782,926 | G/T | — | uncertain significance |
| rs192989810 | 18:29,783,353 | C/T | intron variant | — |
| rs761898238 | 18:29,784,168 | G/A | — | uncertain significance |
| rs374927710 | 18:29,784,197 | G/T | — | uncertain significance |
| rs1233151461 | 18:29,784,216 | T/C | — | uncertain significance |
| rs2510866419 | 18:29,784,221 | A/T | — | uncertain significance |
| rs1342389449 | 18:29,784,269 | T/A | — | uncertain significance |
| rs756766399 | 18:29,784,270 | C/T | — | uncertain significance |
| rs1266820149 | 18:29,787,400 | G/C | — | uncertain significance |
| rs201959687 | 18:29,788,174 | C/T | — | uncertain significance |
| rs2510869730 | 18:29,788,202 | A/G | — | uncertain significance |
| rs2510869772 | 18:29,788,217 | A/G | — | uncertain significance |
| rs748934811 | 18:29,790,508 | G/C | — | uncertain significance |
| rs778262788 | 18:29,790,512 | C/A | — | uncertain significance |
| rs182528771 | 18:29,791,594 | G/C | intron variant | — |
| rs200671563 | 18:29,793,156 | C/T | — | uncertain significance |
| rs2510873883 | 18:29,793,196 | A/G | — | uncertain significance |
| rs375226060 | 18:29,793,223 | G/T | — | uncertain significance |
| rs749550674 | 18:29,793,232 | A/T | — | uncertain significance |
| rs2510874347 | 18:29,793,465 | A/G | — | uncertain significance |
| rs751683259 | 18:29,793,474 | C/T | — | uncertain significance |
| rs1370502240 | 18:29,793,510 | T/C | — | uncertain significance |
| rs746625792 | 18:29,795,045 | A/G | — | uncertain significance |
| rs1226248254 | 18:29,795,144 | G/C | — | uncertain significance |
| rs574607540 | 18:29,795,325 | T/G | — | — |
| rs914114486 | 18:29,796,974 | A/G | — | uncertain significance |
| rs949650681 | 18:29,797,019 | T/C | — | uncertain significance |
| rs200969642 | 18:29,797,059 | G/A | — | likely benign |
| rs2510878204 | 18:29,797,737 | G/A | — | uncertain significance |
| rs769913127 | 18:29,797,771 | A/G | — | uncertain significance |
| rs372140736 | 18:29,797,815 | A/G | — | uncertain significance |
| rs535983723 | 18:29,797,866 | T/A | — | uncertain significance |
| rs572475772 | 18:29,797,908 | C/T | — | uncertain significance |
| rs184429685 | 18:29,799,320 | A/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.