DENND1B
DENN domain containing 1B
Summary
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143462572 | 1:197,479,757 | G/A | — | uncertain significance |
| rs115238884 | 1:197,479,962 | G/A | — | benign |
| rs78578977 | 1:197,480,884 | T/C | — | benign |
| rs372013667 | 1:197,480,959 | G/C | — | uncertain significance |
| rs772026280 | 1:197,522,175 | A/T | — | uncertain significance |
| rs193149367 | 1:197,551,648 | A/G | intron variant | — |
| rs188015482 | 1:197,556,367 | T/C | intron variant | — |
| rs143282367 | 1:197,559,457 | A/G | intron variant | — |
| rs752996042 | 1:197,564,406 | C/G | — | uncertain significance |
| rs202173941 | 1:197,564,456 | G/A | — | uncertain significance |
| rs554571516 | 1:197,564,459 | G/A | — | uncertain significance |
| rs139214348 | 1:197,576,225 | A/C | — | uncertain significance |
| rs926580587 | 1:197,576,255 | G/C | — | uncertain significance |
| rs112883537 | 1:197,579,127 | C/T | — | — |
| rs569763560 | 1:197,581,928 | T/C | — | — |
| rs77063931 | 1:197,586,800 | C/T | — | benign |
| rs2529678576 | 1:197,586,829 | A/G | — | uncertain significance |
| rs552719135 | 1:197,586,830 | T/C | — | uncertain significance |
| rs371820117 | 1:197,586,843 | T/A | — | uncertain significance |
| rs12022672 | 1:197,588,006 | A/G | — | — |
| rs190073601 | 1:197,600,411 | A/C | intron variant | — |
| rs6682968 | 1:197,608,612 | C/T | intron variant | — |
| rs765730218 | 1:197,611,855 | T/C | — | uncertain significance |
| rs182534827 | 1:197,614,834 | T/G | — | uncertain significance |
| rs759837297 | 1:197,621,388 | T/G | — | uncertain significance |
| rs1024117585 | 1:197,621,397 | G/C | — | uncertain significance |
| rs181939465 | 1:197,624,507 | T/C | intron variant | — |
| rs1775453 | 1:197,629,342 | C/T | intron variant | — |
| rs2488389 | 1:197,631,141 | G/A | intron variant | — |
| rs573448885 | 1:197,633,277 | A/G | — | — |
| rs756861665 | 1:197,641,186 | T/C | — | uncertain significance |
| rs748156222 | 1:197,641,234 | C/T | — | uncertain significance |
| rs370843811 | 1:197,643,285 | A/G | — | likely benign |
| rs533284384 | 1:197,654,422 | T/C | — | — |
| rs12131588 | 1:197,666,111 | G/A | intron variant | — |
| rs11588864 | 1:197,668,565 | C/G | intron variant | — |
| rs2477077 | 1:197,671,115 | C/T | intron variant | — |
| rs187143903 | 1:197,674,878 | T/A | intron variant | — |
| rs546380470 | 1:197,706,630 | C/T | — | — |
| rs2488393 | 1:197,722,240 | C/T | upstream gene variant | — |
| rs1998598 | 1:197,727,642 | A/G | intron variant | — |
| rs576370164 | 1:197,730,188 | T/G | — | — |
| rs1775456 | 1:197,733,055 | G/A | downstream gene variant | — |
| rs1026596306 | 1:197,742,019 | A/T | — | uncertain significance |
| rs1169296291 | 1:197,742,045 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.