Bbs7 Bardet-Biedl syndrome 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bbs7provided by MGI
Official Full Name: Bardet-Biedl syndrome 7provided by MGI
Primary source: MGI:MGI:1918742
See related: Ensembl:ENSMUSG00000037325 AllianceGenome:MGI:1918742
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: 8430406N16Rik
Summary: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in fat cell differentiation. Acts upstream of or within several processes, including limb development; primary palate development; and smoothened signaling pathway. Located in several cellular components, including cytoskeleton; nucleus; and photoreceptor outer segment. Part of BBSome. Is expressed in several structures, including adrenal gland; central nervous system; eye; ovary; and respiratory system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis adult (RPKM 9.6), CNS E18 (RPKM 4.4) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 B; 3 17.72 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (36627291..36667639, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (36573142..36613492, complement)

Chromosome 3 - NC_000069.7 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 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?

A deletion containing a CTCF-element in intron 8 of the Bbs7 gene is partially responsible for juvenile obesity in the Berlin Fat Mouse.
Title: A deletion containing a CTCF-element in intron 8 of the Bbs7 gene is partially responsible for juvenile obesity in the Berlin Fat Mouse.
BBS7 is not required for the localization of ciliary membrane proteins polycystin-1, polycystin-2, or bitter taste receptors, but absence of BBS7 leads to abnormal accumulation of the dopamine D1 receptor to the ciliary membrane
Title: BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
Knockout of Bbs7 combined with a hypomorphic Ift88 allele (orpk as a model for Shh dysfuction) results in embryonic lethality with e12.5 embryos having exencephaly, pericardial edema, cleft palate and abnormal limb development.
Title: BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (3) 1 citation

General gene information

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Markers

Bbs7 (e-PCR), detects polymorphism
- UniSTS:526919

PMC86923P4 (e-PCR)
- UniSTS:273559

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within eye development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fat cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within limb development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within primary palate development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed

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
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info	PubMed
located_in ciliary membrane	ISO Inferred from Sequence Orthology 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
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BBSome complex member BBS7; Bardet-Biedl syndrome 7 protein homolog

Names: BBS2-like protein 1; bardet-Biedl syndrome 7 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_027810.3 → NP_082086.2 BBSome complex member BBS7

See identical proteins and their annotated locations for NP_082086.2

Status: VALIDATED

Source sequence(s)

AC117584

Consensus CDS

CCDS17314.2

UniProtKB/Swiss-Prot

Q8C7G3, Q8CH00, Q8K2G4, Q9CXC2

UniProtKB/TrEMBL

Q3V165

Related

ENSMUSP00000103791.3, ENSMUST00000108156.9

Conserved Domains (1) summary

cl24051
Location:172 → 268

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_000069.7 Reference GRCm39 C57BL/6J

Range

36627291..36667639 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006535535.4 → XP_006535598.1 Bardet-Biedl syndrome 7 protein homolog isoform X1

UniProtKB/TrEMBL

Q3V165

Conserved Domains (1) summary

cl24051
Location:150 → 246

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
XM_036163330.1 → XP_036019223.1 Bardet-Biedl syndrome 7 protein homolog isoform X2

UniProtKB/TrEMBL

B1ATV5, B1ATV6, Q3V165

Conserved Domains (1) summary

cl24051
Location:59 → 155

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
XM_006535536.5 → XP_006535599.1 Bardet-Biedl syndrome 7 protein homolog isoform X3

Conserved Domains (1) summary

cl24051
Location:23 → 88

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region