EHD3
EH domain containing 3
Summary
Predicted to enable nucleic acid binding activity. Involved in several processes, including cytosolic transport; endocytic recycling; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760302204 | 2:31,457,503 | G/T | — | uncertain significance |
| rs1480168392 | 2:31,457,521 | A/G | — | uncertain significance |
| rs200106674 | 2:31,457,577 | G/C | — | uncertain significance |
| rs3820924 | 2:31,459,969 | C/T | upstream gene variant | — |
| rs649729 | 2:31,464,385 | T/A | intron variant | — |
| rs647316 | 2:31,464,829 | A/T | — | — |
| rs200163437 | 2:31,467,205 | T/A | — | uncertain significance |
| rs146859437 | 2:31,470,440 | G/C | intron variant | — |
| rs76046038 | 2:31,472,343 | C/T | — | benign |
| rs597800 | 2:31,474,242 | G/C | intron variant | — |
| rs184409696 | 2:31,476,771 | G/C | regulatory region variant | — |
| rs3769621 | 2:31,478,343 | T/G | intron variant | — |
| rs625132 | 2:31,482,300 | A/G | intron variant | — |
| rs1430783801 | 2:31,483,385 | T/C | — | uncertain significance |
| rs112609329 | 2:31,483,518 | A/G | — | benign |
| rs376729413 | 2:31,483,653 | C/G | — | uncertain significance |
| rs2467096799 | 2:31,483,742 | C/T | — | uncertain significance |
| rs775793540 | 2:31,484,466 | G/A | — | uncertain significance |
| rs200189422 | 2:31,484,477 | C/G | — | uncertain significance |
| rs776963239 | 2:31,484,484 | A/C | — | uncertain significance |
| rs1028760156 | 2:31,484,529 | C/T | — | uncertain significance |
| rs619002 | 2:31,488,965 | C/T | intron variant | — |
| rs202004901 | 2:31,489,072 | G/C | — | uncertain significance |
| rs1393335932 | 2:31,489,124 | C/T | — | uncertain significance |
| rs2467107529 | 2:31,489,131 | T/C | — | uncertain significance |
| rs750089351 | 2:31,489,173 | G/A | — | uncertain significance |
| rs2467107722 | 2:31,489,199 | G/T | — | uncertain significance |
| rs145503265 | 2:31,489,249 | G/T | — | benign |
| rs1260956106 | 2:31,489,271 | G/A | — | uncertain significance |
| rs2467107895 | 2:31,489,276 | G/C | — | uncertain significance |
| rs199600150 | 2:31,489,294 | C/G | — | uncertain significance |
| rs200891757 | 2:31,489,307 | G/A | — | uncertain significance |
| rs200504962 | 2:31,489,380 | G/A | — | uncertain significance |
| rs147406143 | 2:31,489,395 | A/G | — | uncertain significance |
| rs774039230 | 2:31,489,427 | G/A | — | uncertain significance |
| rs914536512 | 2:31,489,511 | C/G | — | uncertain significance |
| rs770467922 | 2:31,489,518 | A/G | — | uncertain significance |
| rs745334247 | 2:31,489,520 | G/A | — | uncertain significance |
| rs368461616 | 2:31,489,560 | T/C | — | uncertain significance |
| rs644926 | 2:31,489,727 | T/C | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.