Bbs4 - Bardet-Biedl syndrome 4 (human) Gene

Mus musculus

Also known as D9Ertd464e

Gene ID: 102774 | Gene type: protein coding

About Bbs4

Summary

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; cytoskeletal protein binding activity; and protein-macromolecule adaptor 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 fat pad development; nervous system development; and regulation of organelle organization. Located in several cellular components, including centriolar satellite; photoreceptor cell cilium; and photoreceptor inner segment. Part of BBSome. Is expressed in several structures, including brain; cardiovascular system; eye; genitourinary system; and gut. Used to study Bardet-Biedl syndrome 4 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4). [provided by Alliance of Genome Resources, Apr 2022]

Bbs4 Products(7)

mRNA	Protein	Name
NM_001359558.2	NP_001346487.1	Bardet-Biedl syndrome 4 protein homolog isoform 2
NM_001411791.1	NP_001398720.1	Bardet-Biedl syndrome 4 protein homolog isoform 3
NM_001411793.1	NP_001398722.1	Bardet-Biedl syndrome 4 protein homolog isoform 4
NM_001411794.1	NP_001398723.1	Bardet-Biedl syndrome 4 protein homolog isoform 5
NM_001411795.1	NP_001398724.1	Bardet-Biedl syndrome 4 protein homolog isoform 5
NM_001411796.1	NP_001398725.1	Bardet-Biedl syndrome 4 protein homolog isoform 5
NM_175325.4	NP_780534.1	Bardet-Biedl syndrome 4 protein homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17574030	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within B cell homeostasis	IMP IMP: Inferred from mutant phenotype	33426789	MGI
acts upstream of or within Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	27687499	MGI
acts upstream of or within adipose tissue development	IMP IMP: Inferred from mutant phenotype	33426789	MGI
acts upstream of or within adult behavior	IMP IMP: Inferred from mutant phenotype	15539463	MGI
acts upstream of or within brain morphogenesis	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within cerebral cortex development	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of cilium assembly	IMP IMP: Inferred from mutant phenotype	15173597	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	18299575	MGI
acts upstream of or within dendrite development	IMP IMP: Inferred from mutant phenotype	15322545	MGI
acts upstream of or within erythrocyte homeostasis	IMP IMP: Inferred from mutant phenotype	27687499	MGI
acts upstream of or within face development	IMP IMP: Inferred from mutant phenotype	18443298	MGI
involved in fat cell differentiation	IEP IEP: Inferred from expression pattern	17379567	MGI
acts upstream of or within fat pad development	IMP IMP: Inferred from mutant phenotype	16794820	MGI
acts upstream of gene expression	IMP IMP: Inferred from mutant phenotype	18317593	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	27687499	MGI
acts upstream of or within hippocampus development	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within homeostasis of number of cells	IMP IMP: Inferred from mutant phenotype	33426789	MGI
acts upstream of or within leptin-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	19150989	MGI
acts upstream of or within leukocyte homeostasis	IMP IMP: Inferred from mutant phenotype	27687499	MGI
acts upstream of or within lymphocyte homeostasis	IMP IMP: Inferred from mutant phenotype	27687499	MGI
acts upstream of or within microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	15322545	MGI
acts upstream of or within myeloid cell homeostasis	IMP IMP: Inferred from mutant phenotype	27687499	MGI
acts upstream of or within negative regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	23716571	MGI
acts upstream of or within negative regulation of actin filament polymerization	IMP IMP: Inferred from mutant phenotype	23716571	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 systemic arterial blood pressure	IMP IMP: Inferred from mutant phenotype	18317593	MGI
acts upstream of or within neural tube closure	IMP IMP: Inferred from mutant phenotype	16170314	MGI
acts upstream of or within neuron migration	IGI IGI: Inferred from genetic interaction	18762586	MGI
acts upstream of or within neuron migration	IMP IMP: Inferred from mutant phenotype	18762586	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	15322545	MGI
acts upstream of or within photoreceptor cell maintenance	IGI IGI: Inferred from genetic interaction	23943788	MGI
acts upstream of or within photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	16794820	MGI
acts upstream of or within photoreceptor cell outer segment organization	IMP IMP: Inferred from mutant phenotype	23178122	MGI
acts upstream of or within positive regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	15173597	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	22228099	MGI
involved in protein localization to organelle	IDA IDA: Inferred from direct assay	18334641	MGI
acts upstream of or within protein localization to photoreceptor outer segment	IMP IMP: Inferred from mutant phenotype	18022666	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 regulation of lipid metabolic process	IMP IMP: Inferred from mutant phenotype	15173597	MGI
acts upstream of or within regulation of non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	17519557	MGI
acts upstream of or within regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	23716571	MGI
acts upstream of or within response to leptin	IMP IMP: Inferred from mutant phenotype	18317593	MGI
acts upstream of or within retina homeostasis	IMP IMP: Inferred from mutant phenotype	15173597	MGI
acts upstream of or within retinal rod cell development	IMP IMP: Inferred from mutant phenotype	15173597	MGI
acts upstream of or within sensory perception of smell	IMP IMP: Inferred from mutant phenotype	15322545	MGI
acts upstream of or within social behavior	IMP IMP: Inferred from mutant phenotype	16794820	MGI
acts upstream of or within sperm flagellum assembly	IMP IMP: Inferred from mutant phenotype	33426789	MGI
acts upstream of or within spermatid development	IMP IMP: Inferred from mutant phenotype	15173597	MGI
acts upstream of or within striatum development	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within ventricular system development	IMP IMP: Inferred from mutant phenotype	24695551	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
part of BBSome	IDA IDA: Inferred from direct assay	20080638	MGI
located in centriolar satellite	IDA IDA: Inferred from direct assay	24469809	MGI
located in centrosome	IDA IDA: Inferred from direct assay	15649943	MGI
located in membrane	IDA IDA: Inferred from direct assay	22139371	MGI
located in motile cilium	IMP IMP: Inferred from mutant phenotype	18299575	MGI
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	23943788	MGI
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	18022666	MGI
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	23943788	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 4 protein homolog

Bardet-Biedl syndrome 4 homolog

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12124	BBS-4	Inhibitor	99.51%	Unkown
HY-RS01388	BBS4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS17738	Bbs4 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS24203	Bbs4 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Bbs4	NCBI	NCBI:585

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