EVC2
entrez
132884
canonical
uniprot
Q86UK5
canonical
ensembl
ENSG00000173040
resolver
ensp
ENSP00000311683
resolver
ensp
ENSP00000342144
resolver
genesymbol
EVC2
resolver
genesymbol_syn
LBN
resolver
hgnc
HGNC:19747
resolver
uniprot
Q86YT3
resolver
uniprot
Q86YT4
resolver
uniprot
Q8NG49
resolver
uniprot_entry
LBN_HUMAN
resolver
uniprot_sec
Q86YT3
resolver
uniprot_sec
Q86YT4
resolver
uniprot_sec
Q8NG49
resolver
amino_acid_sequence
MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGLRIPPGRSGAGPESSTQDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASSGPWAHSLFAFIPSWPKKNLFKRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEAQTARIWLLVNNTKTTSSANLSELLLLDSIAGLTIWDSVGNRTSEGFQAFSKKFLQVGDAFAVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAAGFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSLNDQMIDILSSEDPGSMLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHLSPQVERKMSAVFKKQFLLLENEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEAEELLKRAGERSAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSIFFTQIKSAIFKGELKPEAAKMLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQNLQSSETRVQGLLSTAAAQLTHLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDLKQEKKKLHQKLITKRRRELLQKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGATLEELQERLDQAALDDLRTLTLSLFEKATDELRRLQNSAMTQELLKRGVPWLFLQQILEEHGKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSVFSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPELQQQSKVRKSRSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQEGGFAQSLVALQFQKASRVTETLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRELQELERKLEDQLVQQEAAQQQQALASWQQWVADGPGILNEPGEVDSERQVSTVLHQALSKSQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQELRLASYLARMAMVPGATLRRLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLRGDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGAETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD
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:12468274, ECO:0000269|PubMed:12571802}. 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:16404586}. 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. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}.
uniprot
proteins
mass_dalton
147948
uniprot
proteins
pubmed
12136126
uniprot
proteins
pubmed
12468274
uniprot
proteins
pubmed
12571802
uniprot
proteins
pubmed
16404586
uniprot
proteins
pubmed
16959974
uniprot
proteins
sequence_length
1308
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8K1G2}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q8K1G2}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q8K1G2}. Nucleus {ECO:0000250|UniProtKB:Q8K1G2}. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:Q8K1G2}.
uniprot
proteins
transmembrane_region
TRANSMEM 301..321; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins