Bbs2 Bardet-Biedl syndrome 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bbs2provided by MGI
Official Full Name: Bardet-Biedl syndrome 2provided by MGI
Primary source: MGI:MGI:2135267
See related: Ensembl:ENSMUSG00000031755 AllianceGenome:MGI:2135267
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2410125H22Rik
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]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 8.6), testis adult (RPKM 8.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C5; 8 46.14 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (94794580..94825997, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (94067952..94099369, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.
Title: Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.
Bbs1, Bbs2, and Bbs4 proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.
Title: Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.
Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 and Bbs6 genes affect differentially the vascular function.
Title: Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.
Bardet-Biedl syndrome (BBS) proteins mediate LepR trafficking and that impaired LepR signaling underlies energy imbalance in BBS.
Title: Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Although BBS proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1, Bbs2, Bbs4, and Bbs6 mutant mice.
Title: Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
a lack of ciliary localization of somatostatin receptor type 3 (Sstr3) and melanin-concentrating hormone receptor 1 (Mchr1) in neurons from mice lacking the Bbs2 or Bbs4 gene
Title: Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
mice lacking Bbs2 gene expression have phenotypes associated with cilia dysfunction, including retinopathy, renal cysts, male infertility, and a deficit in olfaction
Title: Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI447581 (e-PCR)
- UniSTS:159794

AW061076 (e-PCR)
- UniSTS:179789

D8Mit209 (e-PCR), detects polymorphism
- UniSTS:131417

NoName (e-PCR)
- UniSTS:235971

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Golgi to plasma membrane protein transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within artery smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in fat cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within leptin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of appetite by leptin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to organelle	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cilium beat frequency involved in ciliary motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to leptin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striatum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasodilation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BBSome	IBA Inferred from Biological aspect of Ancestor more info
part_of BBSome	IDA Inferred from Direct Assay more info	PubMed
part_of BBSome	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info	PubMed
located_in ciliary membrane	ISO Inferred from Sequence Orthology more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
located_in motile cilium	ISO Inferred from Sequence Orthology more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: Bardet-Biedl syndrome 2 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_026116.3 → NP_080392.1 Bardet-Biedl syndrome 2 protein homolog

See identical proteins and their annotated locations for NP_080392.1

Status: VALIDATED

Source sequence(s)

AC131733, AC138118

Consensus CDS

CCDS40434.1

UniProtKB/Swiss-Prot

Q9CWF6

Related

ENSMUSP00000034206.5, ENSMUST00000034206.6

Conserved Domains (4) summary

COG2319
Location:104 → 317

WD40; WD40 repeat [General function prediction only]

pfam14781
Location:20 → 161

BBS2_N; Ciliary BBSome complex subunit 2, N-terminal

pfam14782
Location:277 → 715

BBS2_C; Ciliary BBSome complex subunit 2, C-terminal

pfam14783
Location:163 → 272

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

94794580..94825997 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030243735.2 → XP_030099595.1 Bardet-Biedl syndrome 2 protein homolog isoform X1

Conserved Domains (2) summary

pfam14783
Location:1 → 73

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

pfam14782
Location:78 → 516

BBS2_C; Ciliary BBSome complex subunit 2, C-terminal