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Genes
BBS2
Gene - BBS2
full name
Bardet-Biedl syndrome 2
synonyms
BBS, BBS2, ENSG00000125124
HGNC
HGNC:967
Entrez Gene
Gene:583
ENSEMBL
ENSG00000125124
location
chr: 16
start: 56504301
stop: 56554008
strand: -
OMIM
OMIM:606151
: BBS2
OMIM:615981
: Bardet-Biedl syndrome 2
OMIM:616562
: Retinitis pigmentosa 74
transcripts
ENST00000245157.5
pathways
BBSome-mediated cargo-targeting to cilium
[NCBI:1268850]
[REACTOME:R-HSA-5620922]
[PUBMED:22072986]
[PUBMED:19081074]
[PUBMED:17574030]
[PUBMED:15231740]
[PUBMED:19575670]
[PUBMED:20603001]
[PUBMED:22139371]
[PUBMED:24296415]
Cargo trafficking to the periciliary membrane
[NCBI:1268848]
[REACTOME:R-HSA-5620920]
[PUBMED:20530210]
[PUBMED:23150559]
[PUBMED:23567335]
[PUBMED:17574030]
[PUBMED:19081074]
[PUBMED:15314642]
[PUBMED:22085962]
[PUBMED:11384985]
[PUBMED:20038682]
[PUBMED:11684707]
[PUBMED:20399632]
[PUBMED:22389062]
[PUBMED:9362062]
[PUBMED:20603001]
[PUBMED:22139371]
[PUBMED:22326026]
[PUBMED:15998802]
[PUBMED:20145001]
[PUBMED:12169685]
Cilium Assembly
[NCBI:1268846]
[REACTOME:R-HSA-5617833]
[PUBMED:21427764]
[PUBMED:23351793]
[PUBMED:25040720]
[PUBMED:17955020]
[PUBMED:22118932]
[PUBMED:22653444]
[PUBMED:22389062]
[PUBMED:20399632]
[PUBMED:25047619]
[PUBMED:20395968]
[PUBMED:23945166]
[PUBMED:19575670]
[PUBMED:24296415]
[PUBMED:20145001]
[PUBMED:19602418]
Organelle biogenesis and maintenance
[NCBI:1268838]
[REACTOME:R-HSA-1852241]
[PUBMED:8608592]
[PUBMED:16103713]