Gene table of BBS4 : Bardet-Biedl syndrome 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BBS4	OMIM link	Number of associated genes	genes
PS209900	BARDET-BIEDL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	23	ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8

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 pathway	REACTOME ID	REACTOME IC
Cargo trafficking to the periciliary membrane	R-HSA-5620920	7.31
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
BBSome-mediated cargo-targeting to cilium	R-HSA-5620922	8.46
Assembly of the primary cilium	R-HSA-5617833	5.44

Associated GO terms for Molecular function

GO term	GO ID	GO IC
dynactin binding	GO:0034452	7.79
hydrolase activity	GO:0016787	1.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
beta-tubulin binding	GO:0048487	6.13
RNA polymerase II transcription factor binding	GO:0001085	5.08
catalytic activity	GO:0003824	1.05
transcription factor binding	GO:0008134	3.46
cytoskeletal protein binding	GO:0008092	3.02
nucleoside-triphosphatase activity	GO:0017111	3.09
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
RNA polymerase II repressing transcription factor binding	GO:0001103	6.44
alpha-tubulin binding	GO:0043014	6.37
tubulin binding	GO:0015631	4.1
motor activity	GO:0003774	4.81
microtubule motor activity	GO:0003777	5.34
repressing transcription factor binding	GO:0070491	5.71