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Bbs7 Bardet-Biedl syndrome 7 [ Rattus norvegicus (Norway rat) ]

Gene ID: 361930, updated on 2-Nov-2024

Summary

Official Symbol
Bbs7provided by RGD
Official Full Name
Bardet-Biedl syndrome 7provided by RGD
Primary source
RGD:1309264
See related
EnsemblRapid:ENSRNOG00000015816 AllianceGenome:RGD:1309264
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in several processes, including cilium assembly; fat cell differentiation; and intracellular transport. Predicted to act upstream of or within several processes, including positive regulation of proteasomal ubiquitin-dependent protein catabolic process; primary palate development; and smoothened signaling pathway. Predicted to be located in several cellular components, including centrosome; ciliary membrane; and photoreceptor outer segment. Predicted to be part of BBSome. Predicted to be active in cytoskeleton; membrane; and neuron projection. 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
Biased expression in Lung (RPKM 79.1), Kidney (RPKM 65.6) and 9 other tissues See more
Orthologs
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Genomic context

See Bbs7 in Genome Data Viewer
Location:
2q25
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (121362884..121402473, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (119434760..119474665, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (123283402..123322991, complement)

Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene exosome component 9 Neighboring gene cyclin A2 Neighboring gene transient receptor potential cation channel, subfamily C, member 3 Neighboring gene ribosomal protein L7, pseudogene 22

Genomic regions, transcripts, and products

Expression

  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages 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

General gene information

Gene Ontology Provided by RGD

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
involved_in biological_process ND
No biological Data available
more info
 
acts_upstream_of_or_within brain development ISO
Inferred from Sequence Orthology
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within eye development ISO
Inferred from Sequence Orthology
more info
 
involved_in fat cell differentiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within heart development ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within limb development ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within protein localization ISO
Inferred from Sequence Orthology
more info
 
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 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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in axoneme ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
Bardet-Biedl syndrome 7 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)

  1. NM_001012180.1NP_001012180.1  Bardet-Biedl syndrome 7 protein

    See identical proteins and their annotated locations for NP_001012180.1

    Status: PROVISIONAL

    Source sequence(s)
    BC081968
    UniProtKB/TrEMBL
    A0A8I6G5H8, Q66H90
    Related
    ENSRNOP00000021453.6, ENSRNOT00000021453.8
    Conserved Domains (1) summary
    cl24051
    Location:172268
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086020.1 Reference GRCr8

    Range
    121362884..121402473 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)