Bbs2 - Bardet-Biedl syndrome 2 (human) Gene

Also Known as 2410125H22Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 67378

Summary

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including cilium assembly; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including blood vessel diameter maintenance; brain development; and cilium assembly. Located in several cellular components, including microvillus; motile cilium; and stereocilium. Part of BBSome. Is expressed in central nervous system; early embryo; and retina. Used to study Bardet-Biedl syndrome 2. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2). [provided by Alliance of Genome Resources, Apr 2022]

Bbs2 Products (1)

mRNA Protein Name
NM_026116.3 NP_080392.1 Bardet-Biedl syndrome 2 protein homolog

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27979967 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within adult behavior IMP
IMP: Inferred from mutant phenotype
15539463 MGI
acts upstream of or within artery smooth muscle contraction IMP
IMP: Inferred from mutant phenotype
20852044 MGI
acts upstream of or within brain morphogenesis IMP
IMP: Inferred from mutant phenotype
18032602 MGI
acts upstream of or within cartilage development IMP
IMP: Inferred from mutant phenotype
19195025 MGI
acts upstream of or within cerebral cortex development IMP
IMP: Inferred from mutant phenotype
18032602 MGI
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
18299575 MGI
involved in fat cell differentiation IEP
IEP: Inferred from expression pattern
17379567 MGI
acts upstream of gene expression IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within hippocampus development IMP
IMP: Inferred from mutant phenotype
18032602 MGI
acts upstream of or within leptin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
19150989 MGI
involved in negative regulation of appetite by leptin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
19150989 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within negative regulation of multicellular organism growth IMP
IMP: Inferred from mutant phenotype
15539463 MGI
NOT involved in non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
18334641 MGI
acts upstream of or within non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
19195025 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
15539463 MGI
acts upstream of or within positive regulation of multicellular organism growth IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within protein localization IMP
IMP: Inferred from mutant phenotype
15539463 MGI
involved in protein localization to organelle IDA
IDA: Inferred from direct assay
18334641 MGI
involved in regulation of cilium beat frequency involved in ciliary motility IMP
IMP: Inferred from mutant phenotype
18299575 MGI
acts upstream of or within response to leptin IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within sperm axoneme assembly IMP
IMP: Inferred from mutant phenotype
15539463 MGI
acts upstream of or within striatum development IMP
IMP: Inferred from mutant phenotype
18032602 MGI
acts upstream of or within vasodilation IMP
IMP: Inferred from mutant phenotype
20852044 MGI
Cellular Component GO Annotation Evidence References Source
part of BBSome IDA
IDA: Inferred from direct assay
20080638 MGI
located in membrane IDA
IDA: Inferred from direct assay
22139371 MGI
located in microvillus IDA
IDA: Inferred from direct assay
25605782 MGI
located in motile cilium IMP
IMP: Inferred from mutant phenotype
18299575 MGI
located in neuron projection IDA
IDA: Inferred from direct assay
25605782 MGI
located in stereocilium IDA
IDA: Inferred from direct assay
25605782 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 2 protein homolog

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01387 BBS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Bbs2 NCBI NCBI:583