Bbs2 - Bardet-Biedl syndrome 2 (human) Gene

Mus musculus

Also known as 2410125H22Rik

Gene ID: 67378 | Gene type: protein coding

About Bbs2

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27979967	MGI

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

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