Gene table of BBS12 : Bardet-Biedl syndrome 12

Gene-disease associations table

Disease IDDisease nameSource of annotation with BBS12OMIM linkNumber of associated genesgenes
PS209900BARDET-BIEDL SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 23ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8

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Annotation of the gene BBS12

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Cargo trafficking to the periciliary membraneR-HSA-56209207.31
Organelle biogenesis and maintenanceR-HSA-18522414.63
BBSome-mediated cargo-targeting to ciliumR-HSA-56209228.46
Assembly of the primary ciliumR-HSA-56178335.44
Associated GO terms for Molecular function
GO termGO IDGO IC
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
ribonucleoside bindingGO:00325492.22
nucleoside phosphate bindingGO:19012651.96
purine ribonucleoside triphosphate bindingGO:00356392.22
heterocyclic compound bindingGO:19013631.06
small molecule bindingGO:00360941.89
ribonucleotide bindingGO:00325532.19
adenyl ribonucleotide bindingGO:00325592.41
bindingGO:00054880.18
protein bindingGO:00055150.46
ATP bindingGO:00055242.43
purine ribonucleotide bindingGO:00325552.2
purine nucleotide bindingGO:00170762.19
nucleotide bindingGO:00001661.96
purine ribonucleoside bindingGO:00325502.22
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21