GGA3
golgi associated, gamma adaptin ear containing, ARF binding protein 3
Summary
This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs772540792 | 17:73,234,370 | C/T | — | uncertain significance |
| rs769356364 | 17:73,234,404 | C/T | — | uncertain significance |
| rs1217492840 | 17:73,234,734 | T/G | — | uncertain significance |
| rs1311888566 | 17:73,234,786 | T/G | — | uncertain significance |
| rs3178020 | 17:73,234,828 | A/G | — | benign |
| rs2544952769 | 17:73,235,065 | A/G | — | uncertain significance |
| rs376622717 | 17:73,235,083 | C/T | — | uncertain significance |
| rs76982026 | 17:73,235,099 | C/G | — | uncertain significance |
| rs373320990 | 17:73,235,138 | C/T | — | uncertain significance |
| rs763386275 | 17:73,235,156 | G/A | — | uncertain significance |
| rs2544955550 | 17:73,235,512 | T/C | — | uncertain significance |
| rs201488145 | 17:73,235,516 | G/C | — | uncertain significance |
| rs367837492 | 17:73,235,538 | A/T | — | uncertain significance |
| rs1226209588 | 17:73,235,597 | C/T | — | uncertain significance |
| rs1004521080 | 17:73,235,618 | G/C | — | uncertain significance |
| rs1368959837 | 17:73,235,891 | T/C | — | uncertain significance |
| rs141316552 | 17:73,235,919 | C/T | — | likely benign |
| rs978833631 | 17:73,235,928 | C/G | — | uncertain significance |
| rs771733945 | 17:73,235,934 | C/T | — | uncertain significance |
| rs1407351485 | 17:73,235,981 | G/A | — | uncertain significance |
| rs770907958 | 17:73,236,017 | G/A | — | likely benign |
| rs374065325 | 17:73,236,033 | C/T | — | uncertain significance |
| rs201217382 | 17:73,236,063 | G/A | — | uncertain significance |
| rs559299321 | 17:73,236,087 | T/C | — | uncertain significance |
| rs2544959384 | 17:73,236,116 | A/G | — | uncertain significance |
| rs2544959785 | 17:73,236,167 | A/T | — | uncertain significance |
| rs2544959795 | 17:73,236,168 | A/C | — | uncertain significance |
| rs780235622 | 17:73,236,175 | G/C | — | uncertain significance |
| rs184594475 | 17:73,236,428 | G/A | — | likely benign |
| rs764688997 | 17:73,236,911 | C/T | — | uncertain significance |
| rs761548877 | 17:73,236,926 | G/C | — | uncertain significance |
| rs112645273 | 17:73,236,962 | C/G | — | uncertain significance |
| rs376358181 | 17:73,237,092 | C/G | — | uncertain significance |
| rs139136653 | 17:73,237,133 | T/C | — | uncertain significance |
| rs758238529 | 17:73,237,558 | A/G | — | uncertain significance |
| rs933617968 | 17:73,237,725 | C/T | — | uncertain significance |
| rs1162254964 | 17:73,237,729 | C/T | — | uncertain significance |
| rs774062810 | 17:73,237,747 | G/A | — | uncertain significance |
| rs776546246 | 17:73,238,427 | T/A | — | uncertain significance |
| rs201115516 | 17:73,238,430 | C/T | — | likely benign |
| rs2544973345 | 17:73,238,461 | A/G | — | uncertain significance |
| rs52809447 | 17:73,238,508 | T/C | missense variant | benign |
| rs757114764 | 17:73,239,187 | G/C | — | uncertain significance |
| rs201550425 | 17:73,239,193 | G/A | — | uncertain significance |
| rs752453829 | 17:73,239,543 | T/C | — | uncertain significance |
| rs1341785425 | 17:73,239,596 | T/A | — | uncertain significance |
| rs2306216 | 17:73,240,559 | A/G | intron variant | — |
| rs2076692020 | 17:73,240,735 | A/G | — | uncertain significance |
| rs199971286 | 17:73,240,737 | C/T | — | uncertain significance |
| rs2544984931 | 17:73,240,744 | T/C | — | uncertain significance |
| rs527797539 | 17:73,242,609 | T/C | — | uncertain significance |
| rs370372329 | 17:73,242,632 | C/A | — | uncertain significance |
| rs765237355 | 17:73,242,813 | C/T | — | benign |
| rs199641812 | 17:73,244,906 | A/C | — | — |
| rs148924308 | 17:73,245,728 | T/C | intron variant | — |
| rs780422634 | 17:73,257,658 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.