EVC
entrez
2121
canonical
uniprot
P57679
canonical
ensembl
ENSG00000072840
resolver
ensp
ENSP00000264956
resolver
ensp
ENSP00000426774
resolver
ensp
ENSP00000531241
resolver
enst
ENST00000264956
resolver
enst
ENST00000509451
resolver
genesymbol
EVC
resolver
hgnc
HGNC:3497
resolver
uniprot
E9PCN4
resolver
uniprot
Q5U3C2
resolver
uniprot_entry
E9PCN4_HUMAN
resolver
uniprot_entry
EVC_HUMAN
resolver
uniprot_entry
Q5U3C2_HUMAN
resolver
amino_acid_sequence
MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGLWLGCRAGRQRTRHQKDDTQNLLKNLESNAQTPSETGSPSRRRKREVQMSKDKEAVDECEPPSNSNITAFALKAKVIYPINQKFRPLADGSSNPSLHENLKQAVLPHQPVEASPSSSLGSLSQGEKDDCSSSSSVHSATSDDRFLSRTFLRVNAFPEVLACESVDVDLCIYSLHLKDLLHLDTALRQEKHMMFIQIFKMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGLQVKLSNTEMSGAGDSEYITLADVEKKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKCSSSKARQLMMTLTERMIAAEGLLCDSQELQALDALERTMGRAHMAKVIEFLKLQVQEETRCRLAAISHGLELLAGEGKLSGRQKEELLTQQHKAFWQEAERFSREFVQRGKDLVTASLAHQVEGTAKLTLAQEEEQRSFLAEAQPTADPEKFLEAFHEVLERQRLMQCDLEEEENVRATEAVVALCQELYFSTVDTFQKFVDALFLQTLPGMTGLPPEECDYLRQEVQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECALSSVLQTHLREDHEGTIRGVLGRLGGLTEESTRCVLQGHDLLLRSALRRLALRGNALATLTQMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALEARVLEEASRLEEEAQQTRLQLQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRTLMEAAVESVYVTSAGVSRLVQAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRTAGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQNFISELAALARVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQTSGSLSSKRLSQQESEAGDSGNSKKMLKRRSNL
uniprot
proteins
disease_involvement
DISEASE: Ellis-van Creveld syndrome (EVC) [MIM:225500]: An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. {ECO:0000269|PubMed:10700184, ECO:0000269|PubMed:18947413, ECO:0000269|PubMed:19744229}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]: An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome. {ECO:0000269|PubMed:10700184}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development. {ECO:0000250|UniProtKB:P57680}.
uniprot
proteins
mass_dalton
111990
uniprot
proteins
pubmed
10700184
uniprot
proteins
pubmed
18947413
uniprot
proteins
pubmed
19744229
uniprot
proteins
sequence_length
992
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P57680}; Single-pass membrane protein {ECO:0000250|UniProtKB:P57680}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P57680}. Cell projection, cilium {ECO:0000250|UniProtKB:P57680}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:P57680}. Note=EVC2 is required for the localization of EVC at the base of primary cilia. The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:P57680}.
uniprot
proteins
transmembrane_region
TRANSMEM 26..48; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins