Entity Details

Primary name BBS4
Entity type gene
Source Source Link

Details

PrimaryID585
RefseqGeneNG_009416
SymbolBBS4
NameBardet-Biedl syndrome 4
Chromosome15
Location15q24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBBS4_HUMAN

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0000242 pericentriolar material
GO:0000281 mitotic cytokinesis
GO:0001843 neural tube closure
GO:0001895 retina homeostasis
GO:0001947 heart looping
GO:0005634 nucleus
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005929 cilium
GO:0007098 centrosome cycle
GO:0007286 spermatid development
GO:0007601 visual perception
GO:0007608 sensory perception of smell
GO:0015031 protein transport
GO:0016358 dendrite development
GO:0019216 regulation of lipid metabolic process
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0030534 adult behavior
GO:0030674 protein-macromolecule adaptor activity
GO:0031514 motile cilium
GO:0032402 melanosome transport
GO:0032465 regulation of cytokinesis
GO:0033365 protein localization to organelle
GO:0034451 centriolar satellite
GO:0034452 dynactin binding
GO:0034454 microtubule anchoring at centrosome
GO:0034464 BBSome
GO:0035869 ciliary transition zone
GO:0036064 ciliary basal body
GO:0038108 negative regulation of appetite by leptin-mediated signaling pathway
GO:0043014 alpha-tubulin binding
GO:0045444 fat cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0045724 positive regulation of cilium assembly
GO:0046548 retinal rod cell development
GO:0046907 intracellular transport
GO:0048487 beta-tubulin binding
GO:0048854 brain morphogenesis
GO:0050893 sensory processing
GO:0051457 maintenance of protein location in nucleus
GO:0060170 ciliary membrane
GO:0060271 cilium assembly
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
GO:0061512 protein localization to cilium
GO:0071539 protein localization to centrosome
GO:0097730 non-motile cilium
GO:1905515 non-motile cilium assembly

Diseases

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Disease IDSourceNameDescription
615982 OMIMBardet-Biedl syndrome 4 (BBS4)A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

51 interactions

InteractorPartnerSourcesPublicationsLink
BBS4ACTBBioGRID, IntAct18000879 details
BBS4ACY1IntAct18000879 details
BBS4ALDOBBioGRID, IntAct18000879 details
BBS4BHMTBioGRID, IntAct18000879 details
BBS4CALCABioGRID, IntAct18000879 details
BBS4DCTN1BioGRID, IntAct, UniProt15107855 18000879 details
BBS4EEF1A1BioGRID, IntAct18000879 details
BBS4EIF3ABioGRID, IntAct18000879 details
BBS4EPAS1BioGRID, IntAct18000879 details
BBS4EXOC7BioGRID, IntAct18000879 details
BBS4FHOD1BioGRID, IntAct18000879 details
BBS4FLOT1IntAct18000879 details
BBS4HSCBBioGRID, IntAct18000879 details
BBS4KRT18BioGRID, IntAct18000879 details
BBS4PAX2BioGRID, IntAct18000879 details
BBS4PCM1BioGRID, IntAct, UniProt15107855 17574030 18000879 18772192 19081074 22500027 details
BBS4BBS9BioGRID, DIP, IntAct17574030 19081074 20080638 27173435 29039417 unassigned1312 details
BBS4BBIP1IntAct19081074 22500027 29039417 details
BBS4MYOGBioGRID, IntAct25416956 details
BBS4RELBioGRID, IntAct26871637 details
BBS4RARABioGRID, IntAct32296183 details
BBS4OAS1BioGRID, IntAct32296183 details
BBS4ZIC1BioGRID, IntAct32296183 details
BBS4SPIRE1BioGRID, IntAct32296183 details
BBS4RARGBioGRID, IntAct32296183 details
BBS4C2CD6BioGRID, IntAct32296183 details
BBS4CCDC28BDIP16327777 details
BBS4P4HBIntAct32814053 details
BBS4PLP1IntAct32814053 details
BBS4CEP290UniProt18772192 25552655 details
BBS4BBS2BioGRID, IntAct, UniProt17574030 19081074 22139371 22500027 25552655 27173435 unassigned1312 details
BBS4BBS5BioGRID, DIP, IntAct17574030 19081074 20080638 22500027 27173435 28514442 unassigned1312 details
BBS4BBS7BioGRID, DIP, IntAct17574030 19081074 20080638 22500027 27173435 28514442 unassigned1312 details
BBS4BBS1BioGRID, IntAct17574030 19081074 22500027 27173435 28514442 unassigned1312 details
BBS4TTC8BioGRID, IntAct17574030 19081074 22500027 27173435 unassigned1312 details
BBS4RAB3IPIntAct17574030 details
BBS4C2CD3IntAct24997988 details
BBS4TRAFD1BioGRID, IntAct27173435 unassigned1312 details
BBS4TMEM184BBioGRID, IntAct27173435 unassigned1312 details
BBS4RCE1BioGRID, IntAct27173435 unassigned1312 details
BBS4IQCB1UniProt25552655 details
BBS4BBS12DIP20080638 details
BBS4ARL6IntAct22139371 details
BBS4CUL3BioGRID, IntAct21145461 details
BBS4OFD1BioGRID, IntAct26496610 details
BBS4KIF7BioGRID, IntAct26496610 details
BBS4CEP162BioGRID, IntAct26638075 details
BBS4NME3BioGRID, IntAct28514442 details
BBS4DPP3IntAct28514442 details
BBS4CCDC172BioGRID, IntAct28514442 details
BBS4LZTFL1BioGRID, IntAct26186194 28514442 details