2. Gene
  3. Bbs12 - Bardet-Biedl syndrome 12 (human) Gene

Bbs12 - Bardet-Biedl syndrome 12 (human) Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Gm407; Gm721; Gm1805

Gene ID: 241950 | Gene type: protein coding

About Bbs12

Summary

Predicted to enable ATP binding activity and ATP hydrolysis activity. Acts upstream of or within several processes, including intraciliary transport; negative regulation of fat cell differentiation; and photoreceptor cell maintenance. Predicted to be located in cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12). [provided by Alliance of Genome Resources, Apr 2022]

Bbs12 Products(2)

mRNA Protein Name
NM_001008502.2 NP_001008502.2 Bardet-Biedl syndrome 12 protein homolog isoform 1
NM_001255992.1 NP_001242921.1 Bardet-Biedl syndrome 12 protein homolog isoform 2
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within eating behavior IMP
IMP: Inferred from mutant phenotype
22958920 MGI
acts upstream of fat cell differentiation IMP
IMP: Inferred from mutant phenotype
22958920 MGI
acts upstream of or within intraciliary transport IMP
IMP: Inferred from mutant phenotype
22869374 MGI
acts upstream of or within negative regulation of fat cell differentiation IMP
IMP: Inferred from mutant phenotype
22958920 MGI
acts upstream of or within negative regulation of stem cell differentiation IMP
IMP: Inferred from mutant phenotype
22958920 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
22869374 MGI
acts upstream of stem cell differentiation IMP
IMP: Inferred from mutant phenotype
22958920 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

Bardet-Biedl syndrome 12 protein homolog

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01386 BBS12 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Bbs12 NCBI NCBI:166379