EVC2
-
Official Full Name
Ellis van Creveld syndrome 2 -
Overview
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. -
Synonyms
EVC2;Ellis van Creveld syndrome 2;limbin;LBN
| Cat.# | Product name | Source (Host) | Species | Tag | Protein Length | Price |
|---|---|---|---|---|---|---|
| EVC2-3581C | Recombinant Chicken EVC2 | Mammalian Cell | Chicken | His |
|
|
| EVC2-5355M | Recombinant Mouse EVC2 Protein | Mammalian Cell | Mouse | His |
|
|
| EVC2-2885M | Recombinant Mouse EVC2 Protein, His (Fc)-Avi-tagged | HEK293 | Mouse | His&Fc&Avi |
|
|
| EVC2-2885M-B | Recombinant Mouse EVC2 Protein Pre-coupled Magnetic Beads | HEK293 | Mouse |
|
Involved Pathway
EVC2 involved in several pathways and played different roles in them. We selected most pathways EVC2 participated on our site, such as Activation of SMO,Hedgehog on state,Signal Transduction, which may be useful for your reference. Also, other proteins which involved in the same pathway with EVC2 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Activation of SMO | GAS8,IQCE,EVC,ADRBK1,EFCAB7,KIF3A,CSNK1A1,BOC,CDON,SETD6 |
| Signal Transduction | FABP11B,UTS2D,PRC1,LRIG1,METAP2A,SOX7,CDON,OPN5,TNKS,CXCL11.8 |
| Hedgehog on state | KIF3A,BOC,GAS8,RPGRIP1L,GPR161,CDC73,DZIP1,EVC,IQCE,SPOP |
| Signaling by Hedgehog | EFCAB7,IFT122,EVC,SCUBE2,WDR35,IQCE,SPOP,MKS1,KIF7,GPR161 |
Protein Function
EVC2 has several biochemical functions, for example, protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by EVC2 itself. We selected most functions EVC2 had, and list some proteins which have the same functions with EVC2. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| protein binding | C8orf4,IL2RG,COA6,C5orf13,BNIP3,FLRT3,HOMEZ,MINK1,ACTB,ALCAM |
Interacting Protein
EVC2 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with EVC2 here. Most of them are supplied by our site. Hope this information will be useful for your research of EVC2.
Resources
Related Services
Related Products
References
- D'Ambrosio, V; Votino, C; et al. Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. PRENATAL DIAGNOSIS 35:97-99(2015).
- Badri, MK; Zhang, HH; et al. Role of Ellis-van Creveld syndrome2 (Evc2) in craniofacial development. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 164A:1876-1877(2014).
