| Gene Symbol |
EVC
|
| Entrez Gene |
2121
|
| Alt Symbol |
DWF-1, EVC1, EVCL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Ellis van Creveld protein
|
| Other Description |
Ellis van Creveld syndrome|ellis-van Creveld syndrome protein
|
| Swissprots |
P57679
|
| Accessions |
AAY40958 AAY41049 P57679 AF216184 AAF37216 AF216185 AAF37217 AF239742 AAF44682 AK025394 BC085608 AAH85608 BM670090 XM_005247952 XP_005248009 XM_006713865 XP_006713928 XM_006713866 XP_006713929 XM_011513419 XP_011511721 XR_427473 XR_427475 XR_427476 XR_924920 XR_924921 XR_924922 XR_924923 XR_924924 XR_924925 XR_924926 XR_924927 XR_924928 NM_001306090 NP_001293019 NM_001306092 NP_001293021 NM_153717 NP_714928 NM_014556
|
| Function |
Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development. {ECO:0000250}.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Note=EVC2 is required for the localization of EVC at the base of primary cilia. {ECO:0000250}.
|
| Tissue Specificity |
Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
|