• Gene id: 585

Gene Summary

• Gene Symbol: BBS4   Gene   UCSC   Ensembl
• Gene name: Bardet-Biedl syndrome 4
• Alternate names: Bardet-Biedl syndrome 4 protein,
• Gene location: 15q24.1 (72686178: 72738475)     Exons: 17     NC_000015.10
• Gene summary(Entrez): This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins
• OMIM: 600374

SNPs

rs3749474

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55434518C>T
NC_000004.11   g.56300685C>T
NM_004898.4   c.*897G>A
NM_004898.3   c.*897G>A
XM_011534409.2   c.*897G>A
XM_005265787.2   c.*897G>A
XM_005265787.1   c.*897G>A
XM_011534410.2   c.*897G>A
XM_011534411.2   c.*897G>A
NM_001267843.1   c.*897G>A
XM  

rs1801260

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55435202A>G
NC_000004.11   g.56301369A>G
NM_004898.4   c.*213T>C
NM_004898.3   c.*213T>C
XM_011534409.2   c.*213T>C
XM_005265787.2   c.*213T>C
XM_005265787.1   c.*213T>C
XM_011534410.2   c.*213T>C
XM_011534411.2   c.*213T>C
NM_001267843.1   c.*213T>C
XM  

rs3743104

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.32731784A>C
NC_000015.10   g.32731784A>G
NC_000015.10   g.32731784A>T
NC_000015.9   g.33023985A>C
NC_000015.9   g.33023985A>G
NC_000015.9   g.33023985A>T
NG_033791.1   g.18781A>C
NG_033791.1   g.18781A>G
NG_033791.1   g.18781A>T
NG_033791.2   g.18781A>C

rs6811520

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55449011T>C
NC_000004.11   g.56315178T>C|SEQ=[T/C]|GENE=CLOCK
TMEM165   55858

Protein Summary

• Protein general information: Q96RK4  
  • Name: Bardet Biedl syndrome 4 protein
  • Length: 519  
  • Mass: 58282
  • Tissue specificity: Ubiquitously expressed. The highest level of expression is found in the kidney.
• Sequence:

  MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQAL
  IFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQ
  FNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHL
  GNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLA
  PFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVN
  LNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTT
  STSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK

• Structural information:
  • Interpro: IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • DIP: 46540
  • STRING: ENSP00000268057
• Other Databases: GeneCards:  BBS4  Malacards:  BBS4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0034464	BBSome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0001895	retina homeostasis	IEA	biological process
GO:0003085	negative regulation of systemic arterial blood pressure	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0007286	spermatid development	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0021756	striatum development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0034260	negative regulation of GTPase activity	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0045724	positive regulation of cilium assembly	IEA	biological process
GO:0046548	retinal rod cell development	IEA	biological process
GO:0048854	brain morphogenesis	IEA	biological process
GO:0051492	regulation of stress fiber assembly	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	IEA	biological process
GO:0060324	face development	IEA	biological process
GO:0060613	fat pad development	IEA	biological process
GO:1902855	regulation of non-motile cilium assembly	IEA	biological process
GO:1903546	protein localization to photoreceptor outer segment	IEA	biological process
GO:0071539	protein localization to centrosome	IEA	biological process
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001843	neural tube closure	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0007608	sensory perception of smell	IEA	biological process
GO:0008104	protein localization	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0021591	ventricular system development	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0033210	leptin-mediated signaling pathway	IEA	biological process
GO:0033365	protein localization to organelle	IEA	biological process
GO:0034451	centriolar satellite	IEA	cellular component
GO:0034464	BBSome	IEA	cellular component
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	IEA	biological process
GO:0044321	response to leptin	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0034452	dynactin binding	IDA	molecular function
GO:0043014	alpha-tubulin binding	IDA	molecular function
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0060271	cilium assembly	ISS	biological process
GO:0046907	intracellular transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000242	pericentriolar material	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0097730	non-motile cilium	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0031514	motile cilium	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0060170	ciliary membrane	IDA	cellular component
GO:0001895	retina homeostasis	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0007286	spermatid development	ISS	biological process
GO:0016358	dendrite development	ISS	biological process
GO:0019216	regulation of lipid metabolic process	ISS	biological process
GO:0021756	striatum development	ISS	biological process
GO:0021766	hippocampus development	ISS	biological process
GO:0032402	melanosome transport	ISS	biological process
GO:0034454	microtubule anchoring at centrosome	IMP	biological process
GO:0045444	fat cell differentiation	ISS	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0045724	positive regulation of cilium assembly	ISS	biological process
GO:0046548	retinal rod cell development	ISS	biological process
GO:0048854	brain morphogenesis	ISS	biological process
GO:0050893	sensory processing	TAS	biological process
GO:0051457	maintenance of protein location in nucleus	IGI	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	ISS	biological process
GO:0000226	microtubule cytoskeleton organization	ISS	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0007608	sensory perception of smell	ISS	biological process
GO:0021987	cerebral cortex development	ISS	biological process
GO:0030534	adult behavior	ISS	biological process
GO:0032465	regulation of cytokinesis	IMP	biological process
GO:0033365	protein localization to organelle	ISS	biological process
GO:1905515	non-motile cilium assembly	ISS	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	ISS	biological process
GO:0071539	protein localization to centrosome	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0061512	protein localization to cilium	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000242	pericentriolar material	IDA	cellular component
GO:0007098	centrosome cycle	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003777	microtubule motor activity	IMP	molecular function

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
morbid obesity	PMID:17003356
obesity	PMID:17003356
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)