EVC (gene)

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Structures	Swiss-model
Domains	InterPro

Ellis van Creveld syndrome
Ellis van Creveld syndrome
	EVC gene and its neighbors on chromosome 4p16
Identifiers
Symbol	EVC
NCBI gene	2121
HGNC	3497
OMIM	604831
RefSeq	NM_153717
UniProt	P57679
Other data
Locus	Chr. 4 p16
Structures
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Structures	Swiss-model
Domains	InterPro

EVC
Identifiers
Aliases	EVC, DWF-1, EVC1, EVCL, EvC ciliary complex subunit 1
External IDs	OMIM: 604831; MGI: 1890596; HomoloGene: 10949; GeneCards: EVC; OMA:EVC - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	5,814,305 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	37,494,238 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; stromal cell of endometrium; ; gallbladder; ; left ovary; ; Descending thoracic aorta; ; ascending aorta; ; right ovary; ; right coronary artery; ; Achilles tendon; ; ventricular zone;
	Top expressed in
	right kidney; ; human kidney; ; proximal tubule; ; gastrula; ; muscle of thigh; ; otic vesicle; ; ventricular zone; ; tunica media of zone of aorta; ; soleus muscle; ; internal carotid artery;
	More reference expression data
	n/a
Orthologs
	2121
	59056
	ENSG00000072840
	ENSMUSG00000029122
	P57679; Q5U3C2
	P57680
	NM_001306090; NM_001306092; NM_014556; NM_153717
	NM_021292
	NP_001293019; NP_001293021; NP_714928; NP_001293021.1
	NP_067267
	Wikidata
View/Edit Human	View/Edit Mouse

EVC is a gene associated with Ellis–Van Creveld syndrome. It overlaps with the CRMP1 gene.

EVC is one of two genes (the other being EVC2) that upon mutation give rise to EvC (Ellis-van Creveld) syndrome in humans and is found to act as a positive mediator for three hedgehog (Hh) signaling molecules. Mice with an inactivation of the EVC gene (EVC ⁻/⁻) were found to exhibit similar physical characteristics as humans, such as shortened limbs and dental impairments. In a study of 65 individuals affected with EvC, mutations in the EVC gene were found in 20 of them, and primarily attributed to a frameshift resulting in a nonsense codon. More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC gene mutations.