EVC (gene)

EVC is a gene associated with Ellis–Van Creveld syndrome. It overlaps with the CRMP1 gene.^[5]

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)[1] Band 4p16.2 Start 5,711,201 bp[1] End 5,814,305 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 B3 Start 37,446,442 bp[2] End 37,494,238 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS n/a
Orthologs Species Human Mouse Entrez 2121 59056 Ensembl ENSG00000072840 ENSMUSG00000029122 UniProt P57679 Q5U3C2 P57680 RefSeq (mRNA) NM_001306090 NM_001306092 NM_014556 NM_153717 NM_021292 RefSeq (protein) NP_001293019 NP_001293021 NP_714928 NP_001293021.1 NP_067267 Location (UCSC) Chr 4: 5.71 – 5.81 Mb Chr 5: 37.45 – 37.49 Mb PubMed search [3] [4]
Wikidata
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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
Search for Structures Swiss-model Domains InterPro

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.^[6] 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.^[6] 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.^[7] 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.^[8]

See also

• Leucine zipper