full name
EvC ciliary complex subunit 2

synonyms
LBN, EVC2, ENSG00000173040

HGNC
HGNC:19747

Entrez Gene
Gene:132884

ENSEMBL
ENSG00000173040

location
chr: 4
start: 5544531
stop: 5711275
strand: -

OMIM
OMIM:607261: EVC2 (Autosomal recessive inheritance)
OMIM:225500: Ellis-van Creveld syndrome
OMIM:193530: Weyers acrofacial dysostosis

transcripts
NM_001166136.1
NM_147127.4

pathways
Activation of SMO [NCBI:1269642] [REACTOME:R-HSA-5635838] [PUBMED:16339192] [PUBMED:21356043] [PUBMED:20395968] [PUBMED:23719536] [PUBMED:24582806] [PUBMED:14636583] [PUBMED:19081070] [PUBMED:17641202] [PUBMED:17762891] [PUBMED:10966113] [PUBMED:17960137] [PUBMED:22981989] [PUBMED:20412775] [PUBMED:24845016] [PUBMED:23079593] [PUBMED:21801010] [PUBMED:21695114] [PUBMED:15691767] [PUBMED:22986504] [PUBMED:16459297] [PUBMED:14614827] [PUBMED:19906846] [PUBMED:12192414] [PUBMED:20844016]
Hedgehog 'on' state [NCBI:1269640] [REACTOME:R-HSA-5632684] [PUBMED:23719536] [PUBMED:21502959] [PUBMED:21801010] [PUBMED:20395968]
Hedgehog signaling pathway [NCBI:83063] [KEGG:hsa04340] [PUBMED:22534646] [PUBMED:26077918] [PUBMED:24925320] [PUBMED:23719536] [PUBMED:26064136] [PUBMED:26366162] [PUBMED:20708941] [PUBMED:22056910] [PUBMED:18583599] [PUBMED:23799571] [PUBMED:26875496]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Hedgehog [NCBI:1269633] [REACTOME:R-HSA-5358351] [PUBMED:19081070] [PUBMED:21801010] [PUBMED:15549094] [PUBMED:23719536]