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BBS2 Bardet-Biedl syndrome 2 [ Canis lupus familiaris (dog) ]

Gene ID: 478121, updated on 25-Jul-2026
Gene symbol
BBS2
Gene description
Bardet-Biedl syndrome 2
See related
Ensembl:ENSCAFG00845003891 RGD:12374863
Gene type
protein coding
RefSeq status
MODEL
Organism
Canis lupus familiaris
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See BBS2 in Genome Data Viewer
Location:
chromosome: 2
Exon count:
17
Annotation release Status Assembly Chr Location
106 current ROS_Cfam_1.0 (GCF_014441545.1) 2 NC_051806.1 (60219421..60250791)
106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 2 NC_006584.4 (56308316..56339418)
106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 2 NC_049223.1 (58951859..58982967)
106 current UMICH_Zoey_3.1 (GCF_005444595.1) 2 NC_049262.1 (57050041..57081142)
106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 2 NC_049743.1 (58058880..58089986)

Chromosome 2 - NC_051806.1Genomic Context describing neighboring genes Neighboring gene metallothionein 4 Neighboring gene uncharacterized LOC119870316 Neighboring gene uncharacterized LOC111092759 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 1 Neighboring gene nudix hydrolase 21

Go to nucleotide: Graphics FASTA GenBank

Related articles in PubMed

  1. A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. Hitti-Malin RJ, et al. Genes (Basel), 2021 Nov 8. PMID 34828377, Free PMC Article
  2. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
    Title: A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
Submit: New GeneRIF Correction

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables protein binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
part_of BBSome IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in ciliary basal body IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 PubMed 
Preferred Names
Bardet-Biedl syndrome 2 protein

NEW Try the new Transcript table

RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

Reference ROS_Cfam_1.0

Genomic

  1. NC_051806.1 Reference ROS_Cfam_1.0

    Range
    60219421..60250791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038659311.1 → XP_038515239.1  Bardet-Biedl syndrome 2 protein isoform X1

    UniProtKB/TrEMBL
    A0A8C0JYG2, A0A8I3N773
    Related
    ENSCAFP00845005588.1, ENSCAFT00845007005.1
    Conserved Domains (3) summary
    pfam14781
    Location:20 → 126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277 → 721
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165 → 272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

  2. XM_038659312.1 → XP_038515240.1  Bardet-Biedl syndrome 2 protein isoform X2

    UniProtKB/TrEMBL
    A0A8C0JYG2
    Related
    ENSCAFP00845005596.1, ENSCAFT00845007013.1
    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

Alternate UMICH_Zoey_3.1

Genomic

  1. NC_049262.1 Alternate UMICH_Zoey_3.1

    Range
    57050041..57081142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038470185.1 → XP_038326113.1  

    Conserved Domains (3) summary
    pfam14781
    Location:20 → 126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277 → 721
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165 → 272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

  2. XM_038470186.1 → XP_038326114.1  

    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

Alternate UNSW_CanFamBas_1.0

Genomic

  1. NC_049743.1 Alternate UNSW_CanFamBas_1.0

    Range
    58058880..58089986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038595226.1 → XP_038451154.1  

  2. XM_038595227.1 → XP_038451155.1  

Alternate UU_Cfam_GSD_1.0

Genomic

  1. NC_049223.1 Alternate UU_Cfam_GSD_1.0

    Range
    58951859..58982967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038531006.1 → XP_038386934.1  Bardet-Biedl syndrome 2 protein isoform X1

    UniProtKB/TrEMBL
    A0A8C0JYG2, A0A8I3N773
    Conserved Domains (3) summary
    pfam14781
    Location:20 → 126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277 → 721
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165 → 272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

  2. XM_038531007.1 → XP_038386935.1  Bardet-Biedl syndrome 2 protein isoform X2

    UniProtKB/TrEMBL
    A0A8C0JYG2
    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

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

  1. NC_006584.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

    Range
    56308316..56339418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038460860.1 → XP_038316788.1  Bardet-Biedl syndrome 2 protein isoform X1

    UniProtKB/TrEMBL
    A0A8C0JYG2, A0A8I3N773
    Conserved Domains (3) summary
    pfam14781
    Location:20 → 126
    BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
    pfam14782
    Location:277 → 721
    BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
    pfam14783
    Location:165 → 272
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

  2. XM_038460861.1 → XP_038316789.1  Bardet-Biedl syndrome 2 protein isoform X2

    UniProtKB/TrEMBL
    A0A8C0JYG2
    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
Nucleotide Protein
Heading Accession and Version

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