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Genes
EVC2
Gene - EVC2
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]