Bbs12 Bardet-Biedl syndrome 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bbs12provided by MGI
Official Full Name: Bardet-Biedl syndrome 12provided by MGI
Primary source: MGI:MGI:2686651
See related: Ensembl:ENSMUSG00000051444 AllianceGenome:MGI:2686651
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: Gm407; Gm721; Gm1805
Summary: Predicted to enable ATP binding activity and ATP hydrolysis activity. Acts upstream of or within several processes, including intraciliary transport; negative regulation of fat cell differentiation; and photoreceptor cell maintenance. Predicted to be located in cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 1.2), CNS E11.5 (RPKM 1.0) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 B; 3 18.41 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (37366695..37383334)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (37312547..37321450)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Despite increased obesity, glucose tolerance was increased with specific enhanced insulin sensitivity in the adipocytes of Bbs12 knockout mice.
Title: BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chaperone-mediated protein complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within eating behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intraciliary transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of fat cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Bardet-Biedl syndrome 12 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_001008502.2 → NP_001008502.2 Bardet-Biedl syndrome 12 protein homolog isoform 1

See identical proteins and their annotated locations for NP_001008502.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL691478, BC085509

Consensus CDS

CCDS38417.1

UniProtKB/Swiss-Prot

A2AGT2, Q5SUD9

UniProtKB/TrEMBL

Q3U0J2

Related

ENSMUSP00000052179.8, ENSMUST00000057975.8

Conserved Domains (1) summary

pfam00118
Location:372 → 548

Cpn60_TCP1; TCP-1/cpn60 chaperonin family
NM_001255992.1 → NP_001242921.1 Bardet-Biedl syndrome 12 protein homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate splice site, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AL691478

Consensus CDS

CCDS57209.1

UniProtKB/TrEMBL

Q3U0J2, Z4YKQ3

Related

ENSMUSP00000103756.4, ENSMUST00000108121.4

Conserved Domains (1) summary

pfam00118
Location:257 → 433

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

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

37366695..37383334

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011249682.3 → XP_011247984.1 Bardet-Biedl syndrome 12 protein homolog isoform X1

See identical proteins and their annotated locations for XP_011247984.1

UniProtKB/Swiss-Prot

A2AGT2, Q5SUD9

UniProtKB/TrEMBL

Q3U0J2

Conserved Domains (1) summary

pfam00118
Location:372 → 548

Cpn60_TCP1; TCP-1/cpn60 chaperonin family
XM_036163097.1 → XP_036018990.1 Bardet-Biedl syndrome 12 protein homolog isoform X1

UniProtKB/Swiss-Prot

A2AGT2, Q5SUD9

UniProtKB/TrEMBL

Q3U0J2

Conserved Domains (1) summary

pfam00118
Location:372 → 548

Cpn60_TCP1; TCP-1/cpn60 chaperonin family
XM_006535480.3 → XP_006535543.1 Bardet-Biedl syndrome 12 protein homolog isoform X1

See identical proteins and their annotated locations for XP_006535543.1

UniProtKB/Swiss-Prot

A2AGT2, Q5SUD9

UniProtKB/TrEMBL

Q3U0J2

Conserved Domains (1) summary

pfam00118
Location:372 → 548

Cpn60_TCP1; TCP-1/cpn60 chaperonin family
XM_030252614.2 → XP_030108474.1 Bardet-Biedl syndrome 12 protein homolog isoform X2

UniProtKB/TrEMBL

Q3U0J2, Z4YKQ3

Conserved Domains (1) summary

pfam00118
Location:257 → 433

Cpn60_TCP1; TCP-1/cpn60 chaperonin family