• Gene id: 583

Gene Summary

• Gene Symbol: BBS2   Gene   UCSC   Ensembl
• Aliases: BBS, RP74
• Gene name: Bardet-Biedl syndrome 2
• Alternate names: Bardet-Biedl syndrome 2 protein,
• Gene location: 16q13 (41332840: 41381049)     Exons: 11     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: 606151

Protein Summary

• Protein general information: Q9BXC9  
  • Name: Bardet Biedl syndrome 2 protein
  • Length: 721  
  • Mass: 79871
  • Tissue specificity: Widely expressed.
• Sequence:

  MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLNINQAV
  SCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHE
  GSDLFWTVTGDNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGT
  VGVYDKTSRYWRIKSKNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMD
  GHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRG
  IIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKD
  VPVDLHLKAFVGYRSSTQFHVFESTRQLPRFSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTH
  IQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKV
  DEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAV
  NQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTASS

• Structural information:
  • Interpro: IPR016616  IPR029333  IPR029429  IPR029430  IPR015943   IPR036322  
  • DIP: 46563
  • STRING: ENSP00000245157
• Other Databases: GeneCards:  BBS2  Malacards:  BBS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0060271	cilium assembly	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0036064	ciliary basal body	IBA	cellular component
GO:0034464	BBSome	IBA	cellular component
GO:0031514	motile cilium	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0007601	visual perception	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034464	BBSome	IEA	cellular component
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0043001	Golgi to plasma membrane protein transport	IMP	biological process
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:0005902	microvillus	IEA	cellular component
GO:0007288	sperm axoneme assembly	IEA	biological process
GO:0014824	artery smooth muscle contraction	IEA	biological process
GO:0021756	striatum development	IEA	biological process
GO:0021766	hippocampus development	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:0048854	brain morphogenesis	IEA	biological process
GO:0051216	cartilage development	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:0008104	protein localization	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0033210	leptin-mediated signaling pathway	IEA	biological process
GO:0033365	protein localization to organelle	IEA	biological process
GO:0034464	BBSome	IEA	cellular component
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	IEA	biological process
GO:0040015	negative regulation of multicellular organism growth	IEA	biological process
GO:0042311	vasodilation	IEA	biological process
GO:0044321	response to leptin	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036064	ciliary basal body	IDA	cellular component
GO:0031514	motile cilium	IDA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0007288	sperm axoneme assembly	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:0045444	fat cell differentiation	ISS	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0048854	brain morphogenesis	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	ISS	biological process
GO:0008104	protein localization	ISS	biological process
GO:0021987	cerebral cortex development	ISS	biological process
GO:0030534	adult behavior	ISS	biological process
GO:0033365	protein localization to organelle	ISS	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	ISS	biological process
GO:0040015	negative regulation of multicellular organism growth	ISS	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Bardet-Biedl syndrome	KEGG:H00418
Retinitis pigmentosa	KEGG:H00527
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	PMID:11285252
obesity	PMID:17003356
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R