WormBase Tree Display for Gene: WBGene00043992

WBGene00043992 SMap: S_parent: Sequence: F58A4
  Identity: Version: 2
    Name: CGC_name: bbs-4 Paper_evidence: WBPaper00036268
            WBPaper00041474
          Person_evidence: WBPerson2136
      Sequence_name: F58A4.14
      Molecular_name: F58A4.14a
        F58A4.14a.1
        CE46408
        F58A4.14b
        CE46292
        F58A4.14b.1
      Other_name: CELE_F58A4.14 Accession_evidence: NDB BX284603
      Public_name: bbs-4
    DB_info: Database: AceView gene 3K700
        WormFlux gene WBGene00043992
        OMIM disease 209900
          gene 603650
            600374
        NDB locus_tag CELE_F58A4.14
        Panther gene CAEEL|WormBase=WBGene00043992|UniProtKB=Q5CZ52
          family PTHR44186
        NCBI gene 3565681
        RefSeq protein NM_001268085.3
            NM_001268084.2
        SwissProt UniProtAcc Q5CZ52
        TREEFAM TREEFAM_ID TF324966
        UniProt_GCRP UniProtAcc Q5CZ52
    Species: Caenorhabditis elegans
    History: Version_change: 1 08 Nov 2004 16:18:37 WBPerson1983 Event: Created
        2 09 Nov 2012 16:28:10 WBPerson2970 Name_change: CGC_name: bbs-4
    Status: Live
  Gene_info: Biotype: SO:0001217
    Gene_class: bbs
    Allele (25)
    RNASeq_FPKM (74)
    GO_annotation (18)
    Ortholog (39)
    Paralog: WBGene00000244 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00003858 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00003885 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00017983 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00018175 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00021444 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00021613 Caenorhabditis elegans From_analysis: WormBase-Compara
    Structured_description: Concise_description: bbs-4 encodes the ortholog of human BBS4 and is paralogous to elegans bbs-8 and osm-5 which are all ciliary proteins involved in ciliary structure and function. Paper_evidence: WBPaper00029016
          Curator_confirmed: WBPerson1843
            WBPerson324
          Date_last_updated: 26 Nov 2012 00:00:00
      Automated_description: Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in centrosome cycle; cilium assembly; and protein localization to cilium. Located in ciliary basal body. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4 and morbid obesity. Is an ortholog of human BBS4 (Bardet-Biedl syndrome 4). Paper_evidence: WBPaper00065943
          Curator_confirmed: WBPerson324
            WBPerson37462
          Inferred_automatically: This description was generated automatically by a script based on data from the WS291 version of WormBase
          Date_last_updated: 29 Nov 2023 00:00:00
  Disease_info: Experimental_model: DOID:1935 Homo sapiens Paper_evidence: WBPaper00040543
          Accession_evidence: OMIM 209900
          Curator_confirmed: WBPerson324
          Date_last_updated: 05 May 2017 00:00:00
    Potential_model: DOID:0110126 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:969)
      DOID:9970 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:969)
      DOID:11981 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:969)
    Disease_relevance: The human ortholog of this gene, BBS4, is mutated in Bardet-Biedl syndrome 4; Bardet-Biedl syndrome phenotypes include retinal degeneration, obesity, renal malformations, polydactyly and learning disabilities; studies in the worm have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; most of the known BBS proteins in human and elegans encode basal body or cilia proteins involved in ciliary structure and function including intraflagellar transport (IFT); studies in elegans indicate that transcription of BBS proteins is regulated by a RFX-transcription factor and that some BBS proteins may also regulate GCY-35/GCY-36 cGMP signaling which can affect BBS mutant gene phenotypes. Homo sapiens Paper_evidence: WBPaper00040543
          Accession_evidence: OMIM 209900
              603650
          Curator_confirmed: WBPerson324
          Date_last_updated: 31 Jan 2012 00:00:00
  Models_disease_in_annotation: WBDOannot00000039
  Molecular_info: Corresponding_CDS: F58A4.14a
      F58A4.14b
    Corresponding_transcript: F58A4.14a.1
      F58A4.14b.1
    Other_sequence: FK803005.1
    Associated_feature: WBsf651388
      WBsf667303
  Experimental_info: RNAi_result: WBRNAi00048931 Inferred_automatically: RNAi_primary
      WBRNAi00002693 Inferred_automatically: RNAi_primary
    Expr_pattern: Expr1020451
      Expr1152666
      Expr2009572
      Expr2027809
    Construct_product: WBCnstr00015632
    Microarray_results (15)
    Expression_cluster (135)
    Interaction: WBInteraction000532914
      WBInteraction000532915
  Map_info: Map: III Position: 0.731898
    Positive: Positive_clone: F58A4 Inferred_automatically: From sequence, transcript, pseudogene data
    Pseudo_map_position
  Reference: WBPaper00029016
    WBPaper00038491
    WBPaper00043576
    WBPaper00047009
    WBPaper00055090
    WBPaper00064108
    WBPaper00064187
  Remark: Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. CGC_data_submission
  Method: Gene