bbs2 Bardet-Biedl syndrome 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: bbs2provided by ZNC
Official Full Name: Bardet-Biedl syndrome 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-020801-1
See related: Ensembl:ENSDARG00000041621 AllianceGenome:ZFIN:ZDB-GENE-020801-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: fb80a05; wu:fb80a05
Summary: Involved in cilium assembly and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; photoreceptor cell maintenance; and pigment granule aggregation in cell center. Predicted to be located in centriolar satellite; ciliary membrane; and cytoplasm. Predicted to be part of BBSome. Predicted to be active in several cellular components, including ciliary basal body; motile cilium; and neuron projection. Is expressed in eye; photoreceptor outer segment layer; retina; and retinal photoreceptor layer. Used to study Bardet-Biedl syndrome. 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, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 18

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	18	NC_007129.7 (17516583..17531483, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	18	NC_007129.6 (17527517..17542417, complement)

Chromosome 18 - NC_007129.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within Kupffer's vesicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanosome transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigment granule aggregation in cell center	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed

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
located_in cell projection	IEA Inferred from Electronic Annotation 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 membrane	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BBSome complex member BBS2

Names: 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_152887.1 → NP_690843.1 BBSome complex member BBS2

See identical proteins and their annotated locations for NP_690843.1

Status: PROVISIONAL

Source sequence(s)

AF342739

UniProtKB/Swiss-Prot

Q98SP7

Related

ENSDARP00000060999.2, ENSDART00000061000.3

Conserved Domains (4) summary

COG2319
Location:87 → 291

WD40; WD40 repeat [General function prediction only]

pfam14781
Location:20 → 161

BBS2_N; Ciliary BBSome complex subunit 2, N-terminal

pfam14782
Location:277 → 709

BBS2_C; Ciliary BBSome complex subunit 2, C-terminal

pfam14783
Location:163 → 272

BBS2_Mid; Ciliary BBSome complex subunit 2, middle region