• Gene id: 166379

Gene Summary

• Gene Symbol: BBS12   Gene   UCSC   Ensembl
• Aliases: C4orf24
• Gene name: Bardet-Biedl syndrome 12
• Alternate names: Bardet-Biedl syndrome 12 protein, truncated Bardet-Biedl syndrome 12 protein,
• Gene location: 4q27 (122700436: 122744942)     Exons: 4     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Def
• OMIM: 610683

Protein Summary

• Protein general information: Q6ZW61  
  • Name: Bardet Biedl syndrome 12 protein
  • Length: 710  
  • Mass: 79085
• Sequence:

  MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESLDLTSAVGQLLNEAVQ
  AQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDCMDSTKTFSQL
  ETFSVSLCPFLQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTC
  CRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQ
  QGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIEGDLTENYRHLGFNKS
  ANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSERLIEKCINSKRLVIGSVNGSVMQAFAEAAG
  AVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYR
  LYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLS
  TLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRR
  ALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL

• Structural information:
  • Interpro: IPR042984  IPR002423  IPR027409  IPR027413  IPR027410  
  • DIP: 60348
  • STRING: ENSP00000438273
• Other Databases: GeneCards:  BBS12  Malacards:  BBS12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045494	photoreceptor cell maintenance	IBA	biological process
GO:0051131	chaperone-mediated protein complex assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051131	chaperone-mediated protein complex assembly	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0051131	chaperone-mediated protein complex assembly	IMP	biological process
GO:0045599	negative regulation of fat cell differentiation	IMP	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0042755	eating behavior	IEA	biological process
GO:0042073	intraciliary transport	IEA	biological process
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881