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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;

Species	Cat.#	Product name	Source (Host)	Tag	Price
Mouse	EVC2-5355M	Recombinant Mouse EVC2 Protein	Mammalian Cell	His	Inquiry
Mouse	EVC2-2885M	Recombinant Mouse EVC2 Protein, His (Fc)-Avi-tagged	HEK293	His (Fc)-Avi	Inquiry
Mouse	EVC2-2885M-B	Recombinant Mouse EVC2 Protein Pre-coupled Magnetic Beads	HEK293		Inquiry
Chicken	EVC2-3581C	Recombinant Chicken EVC2	Mammalian Cell	His	Inquiry

Involved Pathway
Protein Function
Interacting Protein
EVC2 Related Articles

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	BOC;CDON;IQCE;KIF3A;ADRBK1;GAS8;SETD6;EVC2;EVC
Hedgehog on state	SPOPL;GAS8;DZIP1;GPR161;IQCE;EVC;CDON;KIF7;IFT172
Signal Transduction	RGS6;NMB;RGR;RYK;RDH14;KREMEN1;LPAR5A;LRP10;PRDM4
Signaling by Hedgehog	TULP3;KIF7;IFT122;CDC73;INTU;WDR19;BOC;GAS8;MKS1

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	YIPF2;SPACA3;MYOG;ANTXR1;AZU1;PSMA2;ADAM1B;PATL1;CRY1A

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.

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).