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    jbts-14 Transmembrane protein 237 homolog [ Caenorhabditis elegans ]

    Gene ID: 181116, updated on 2-Nov-2024

    Summary

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    Official Symbol
    jbts-14
    Official Full Name
    Transmembrane protein 237 homolog
    Primary source
    WormBase:WBGene00018727
    Locus tag
    CELE_F53A9.4
    See related
    AllianceGenome:WB:WBGene00018727
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Involved in non-motile cilium assembly. Located in ciliary basal body and ciliary transition zone. Is expressed in ciliated neurons. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 14. Orthologous to human TMEM237 (transmembrane protein 237). [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See jbts-14 in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    8
    Sequence:
    Chromosome: X; NC_003284.9 (8704306..8707252)

    Chromosome X - NC_003284.9Genomic Context describing neighboring genes Neighboring gene ncRNA Neighboring gene G-protein coupled receptors family 1 profile domain-containing protein Neighboring gene Uncharacterized protein Neighboring gene Protein kreg-1

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003284.9

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans. Lange KI, et al. Dis Model Mech, 2021 Jan 1. PMID 33234550, Free PMC Article
    2. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Huang L, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152675, Free PMC Article
    3. The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate. Gonçalves J, et al. Mol Cells, 2017 Apr. PMID 28401750, Free PMC Article
    4. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Lambacher NJ, et al. Nat Cell Biol, 2016 Jan. PMID 26595381, Free PMC Article
    5. A Conserved Role for Girdin in Basal Body Positioning and Ciliogenesis. Nechipurenko IV, et al. Dev Cell, 2016 Sep 12. PMID 27623382, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Transmembrane protein 237 homolog
    NP_509471.2
    • Partially confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003284.9 Reference assembly

      Range
      8704306..8707252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_077070.7 → NP_509471.2  Transmembrane protein 237 homolog [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_509471.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q20687
      Conserved Domains (1) summary
      pfam15383
      Location:162 → 366
      TMEM237; Transmembrane protein 237
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q20687.2

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