Bbs2 Bardet-Biedl syndrome 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bbs2provided by RGD
Official Full Name: Bardet-Biedl syndrome 2provided by RGD
Primary source: RGD:71091
See related: EnsemblRapid:ENSRNOG00000019020 AllianceGenome:RGD:71091
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 negative regulation of appetite by leptin-mediated signaling pathway; regulation of cilium beat frequency involved in ciliary motility; and visual perception. Predicted to act upstream of or within several processes, including blood vessel diameter maintenance; brain development; and cilium assembly. Predicted to be located in ciliary membrane; microvillus; and stereocilium. Predicted to be part of BBSome. Predicted to be active in several cellular components, including ciliary basal body; motile cilium; and neuron projection. 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, Dec 2024]
Expression: Biased expression in Kidney (RPKM 124.7), Testes (RPKM 114.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 19p12

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	19	NC_086037.1 (10915566..10950911)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	19	NC_051354.1 (10909653..10944998)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	19	NC_005118.4 (11385921..11421523)

Chromosome 19 - NC_086037.1 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: 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?

Submit: New GeneRIF Correction

General gene information

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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
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within artery smooth muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within brain morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in fat cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hippocampus development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within leptin-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of appetite by leptin-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of multicellular organism growth	ISO Inferred from Sequence Orthology more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
NOT involved_in non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of multicellular organism growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to organelle	ISO Inferred from Sequence Orthology more info
involved_in regulation of cilium beat frequency involved in ciliary motility	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to leptin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sperm axoneme assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within striatum development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vasodilation	ISO Inferred from Sequence Orthology more info
involved_in visual perception	ISO Inferred from Sequence Orthology more info
involved_in visual perception	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of BBSome	IBA Inferred from Biological aspect of Ancestor more info
part_of BBSome	IEA Inferred from Electronic Annotation more info
part_of BBSome	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	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
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
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	ISO Inferred from Sequence Orthology more info
located_in stereocilium	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: BBSome complex member BBS2; Bardet-Biedl syndrome 2 protein homolog

Names: Bardet-Biedl syndrome 2 homolog; 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_053618.1 → NP_446070.1 BBSome complex member BBS2

See identical proteins and their annotated locations for NP_446070.1

Status: PROVISIONAL

Source sequence(s)

AF342738

UniProtKB/Swiss-Prot

Q99MH9

UniProtKB/TrEMBL

A0A8I6A3J2, A6JY76

Conserved Domains (3) summary

pfam14781
Location:20 → 126

BBS2_N; Ciliary BBSome complex subunit 2, N-terminal

pfam14782
Location:277 → 715

BBS2_C; Ciliary BBSome complex subunit 2, C-terminal

pfam14783
Location:165 → 272

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

NC_086037.1 Reference GRCr8

Range

10915566..10950911

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006255131.5 → XP_006255193.1 Bardet-Biedl syndrome 2 protein homolog isoform X1

UniProtKB/TrEMBL

A0A8I6A3J2

Related

ENSRNOP00000087643.2, ENSRNOT00000106411.2

Conserved Domains (4) summary

COG2319
Location:135 → 317

WD40; WD40 repeat [General function prediction only]

pfam14781
Location:20 → 161

BBS2_N; Ciliary BBSome complex subunit 2, N-terminal

pfam14782
Location:277 → 734

BBS2_C; Ciliary BBSome complex subunit 2, C-terminal

pfam14783
Location:163 → 272

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
XM_039097425.2 → XP_038953353.1 Bardet-Biedl syndrome 2 protein homolog isoform X2

UniProtKB/TrEMBL

A0A8I6A3J2, A0A8I6A6C7

Related

ENSRNOP00000026076.3, ENSRNOT00000026076.5

Conserved Domains (3) summary

pfam14781
Location:1 → 80

BBS2_N; Ciliary BBSome complex subunit 2, N-terminal

pfam14782
Location:231 → 688

BBS2_C; Ciliary BBSome complex subunit 2, C-terminal

pfam14783
Location:119 → 226

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
XM_063277732.1 → XP_063133802.1 Bardet-Biedl syndrome 2 protein homolog isoform X2

UniProtKB/TrEMBL

A0A8I6A3J2, A0A8I6A6C7