Bbs4 - Bardet-Biedl syndrome 4 (human) Gene

Also Known as D9Ertd464e

Species: Mus musculus

Gene Type: protein coding
Gene ID: 102774

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 Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
17574030 MGI
Biological Process GO Annotation Evidence Références 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 Références 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

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-12124 BBS-4 Inhibitor 99.49% Unkown
HY-RS01388 BBS4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17738 Bbs4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24203 Bbs4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Bbs4 NCBI NCBI:585