Bbs12 Bardet-Biedl syndrome 12 [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Bbs12provided by RGD
Full Name: Bardet-Biedl syndrome 12provided by RGD
Primary source: RGD:1561608
See related: EnsemblRapid:ENSRNOG00000068263 AllianceGenome:RGD:1561608
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1561608
Summary: Predicted to enable ATP binding activity. Predicted to be involved in chaperone-mediated protein complex assembly and photoreceptor cell maintenance. Predicted to act upstream of or within eating behavior; intraciliary transport; and negative regulation of cell differentiation. 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, Jan 2025]
Expression: Biased expression in Testes (RPKM 55.1), Adrenal (RPKM 49.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 2q25

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (122131550..122149152)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (120203396..120221024)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (124048513..124057026)

Chromosome 2 - NC_086020.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RGD

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	ISO Inferred from Sequence Orthology more info
acts_upstream_of fat cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intraciliary transport	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell maintenance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of stem cell differentiation	ISO Inferred from Sequence Orthology more info

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

General protein information

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Preferred Names: Bardet-Biedl syndrome 12 protein

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_001399323.1 → NP_001386252.1 Bardet-Biedl syndrome 12 protein

Status: VALIDATED

Source sequence(s)

JAXUCZ010000002

UniProtKB/TrEMBL

A0A8I5ZPB0

Related

ENSRNOP00000080002.1, ENSRNOT00000118237.2

Conserved Domains (1) summary

pfam00118
Location:398 → 539

Cpn60_TCP1; TCP-1/cpn60 chaperonin family