| Gene Symbol |
EVC2
|
| Entrez Gene |
132884
|
| Alt Symbol |
LBN
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Ellis van Creveld syndrome 2
|
| Other Description |
ellis-van Creveld syndrome protein 2|limbin
|
| Swissprots |
Q86YT3 Q8NG49 Q86YT4 Q86UK5
|
| Accessions |
AAY41034 AAY41048 AIV00554 EAW82412 EAW82413 EAW82414 Q86UK5 AB083067 BAC06590 AW137166 AY152402 AAN86577 AY152403 AAN86578 AY185210 AAO22066 BC111455 AAI11456 BC143836 BG755658 XM_011513392 XP_011511694 XM_011513393 XP_011511695 XM_011513394 XP_011511696 NM_001166136 NP_001159608 NM_147127 NP_667338
|
| Function |
Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development. {ECO:0000250}.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Nucleus {ECO:0000250}.
|
| Tissue Specificity |
Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:12468274}.
|