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    BBS2 Bardet-Biedl syndrome 2 [ Homo sapiens (human) ]

    Gene ID: 583, updated on 8-Jul-2021

    Summary

    Official Symbol
    BBS2provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 2provided by HGNC
    Primary source
    HGNC:HGNC:967
    See related
    Ensembl:ENSG00000125124 MIM:606151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBS; RP74
    Summary
    This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
    Expression
    Ubiquitous expression in adrenal (RPKM 37.8), brain (RPKM 22.6) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BBS2 in Genome Data Viewer
    Location:
    16q13
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (56470403..56520095, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56504315..56553936, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene autocrine motility factor receptor Neighboring gene nudix hydrolase 21 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 1 Neighboring gene uncharacterized LOC105371283 Neighboring gene metallothionein 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC20703

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Golgi to plasma membrane protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adult behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hippocampus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of appetite by leptin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cilium beat frequency involved in ciliary motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in striatum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 2 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009312.2 RefSeqGene

      Range
      5001..40640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001377456.1NP_001364385.1  Bardet-Biedl syndrome 2 protein

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encodes the same protein.
      Source sequence(s)
      AC009155, AC026461, AC092140
      Related
      ENSP00000507027.1, ENST00000682855.1
      Conserved Domains (3) summary
      pfam14781
      Location:20126
      BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
      pfam14782
      Location:277715
      BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
      pfam14783
      Location:165272
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
    2. NM_031885.5NP_114091.4  Bardet-Biedl syndrome 2 protein

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encodes the same protein.
      Source sequence(s)
      AC009155, AF342736, DA437930, DB316257
      Consensus CDS
      CCDS32451.1
      Related
      ENSP00000245157.5, ENST00000245157.11
      Conserved Domains (3) summary
      pfam14781
      Location:20126
      BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
      pfam14782
      Location:277715
      BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
      pfam14783
      Location:165272
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

    RNA

    1. NR_165293.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009155, AC026461, AC092140
      Related
      ENST00000684673.1
    2. NR_165294.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009155, AC026461, AC092140
      Related
      ENST00000682493.1
    3. NR_165295.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009155, AC026461, AC092140
      Related
      ENST00000682429.1
    4. NR_165296.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009155, AC026461, AC092140
      Related
      ENST00000683020.1
    5. NR_165297.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009155, AC026461, AC092140
      Related
      ENST00000683212.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      56470403..56520095 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_933379.1 RNA Sequence

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