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    BBS7 Bardet-Biedl syndrome 7 [ Homo sapiens (human) ]

    Gene ID: 55212, updated on 8-Jul-2021

    Summary

    Official Symbol
    BBS7provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 7provided by HGNC
    Primary source
    HGNC:HGNC:18758
    See related
    Ensembl:ENSG00000138686 MIM:607590
    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
    BBS2L1
    Summary
    This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
    Expression
    Ubiquitous expression in brain (RPKM 6.1), ovary (RPKM 3.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BBS7 in Genome Data Viewer
    Location:
    4q27
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (121824329..121870487, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (122745484..122791629, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4891 Neighboring gene exosome component 9 Neighboring gene cyclin A2 Neighboring gene transient receptor potential cation channel subfamily C member 3 Neighboring gene uncharacterized LOC102724158 Neighboring gene Sharpr-MPRA regulatory region 11420

    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

    • FLJ10715

    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
    involved_in brain development IEA
    Inferred from Electronic Annotation
    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 determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in digestive tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in limb development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pigment granule aggregation in cell center ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of proteasomal ubiquitin-dependent protein catabolic process IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in primary palate development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    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 axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome 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 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 neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 7 protein
    Names
    BBS2-like 1

    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_009111.1 RefSeqGene

      Range
      5014..51159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018190.4NP_060660.2  Bardet-Biedl syndrome 7 protein isoform b

      See identical proteins and their annotated locations for NP_060660.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, and coding region compared to variant 1. The resulting isoform (b) maintains the reading frame but is shorter at the C-terminus, compared to isoform a.
      Source sequence(s)
      AI220177, BC032691, BX510161
      Consensus CDS
      CCDS54799.1
      UniProtKB/Swiss-Prot
      Q8IWZ6
      Related
      ENSP00000423626.1, ENST00000506636.1
      Conserved Domains (1) summary
      cl24051
      Location:203268
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
    2. NM_176824.3NP_789794.1  Bardet-Biedl syndrome 7 protein isoform a

      See identical proteins and their annotated locations for NP_789794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AC079341, AK308076, BC032691, BX510161, DB139794
      Consensus CDS
      CCDS3724.1
      UniProtKB/Swiss-Prot
      Q8IWZ6
      Related
      ENSP00000264499.4, ENST00000264499.9
      Conserved Domains (1) summary
      cl24051
      Location:203268
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

    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_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      121824329..121870487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008357.2XP_016863846.1  Bardet-Biedl syndrome 7 protein isoform X5

    2. XM_017008358.2XP_016863847.1  Bardet-Biedl syndrome 7 protein isoform X6

    3. XM_005263106.4XP_005263163.1  Bardet-Biedl syndrome 7 protein isoform X3

      Conserved Domains (1) summary
      cl24051
      Location:204269
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
    4. XM_011532080.3XP_011530382.1  Bardet-Biedl syndrome 7 protein isoform X2

      Conserved Domains (1) summary
      cl24051
      Location:218283
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
    5. XM_011532081.3XP_011530383.1  Bardet-Biedl syndrome 7 protein isoform X4

      Conserved Domains (1) summary
      cl24051
      Location:219284
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
    6. XM_011532079.3XP_011530381.1  Bardet-Biedl syndrome 7 protein isoform X1

      Conserved Domains (1) summary
      cl24051
      Location:219284
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
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