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    mks-6 [ Caenorhabditis elegans ]

    Gene ID: 187121, updated on 22-Aug-2024

    Summary

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    Official Symbol
    mks-6
    Primary source
    WormBase:WBGene00010642
    Locus tag
    CELE_K07G5.3
    See related
    AllianceGenome:WB:WBGene00010642
    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 and protein localization to ciliary transition zone. Located in ciliary transition zone and dendrite terminus. Is expressed in head; nervous system; and tail. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Orthologous to several human genes including CC2D2A (coiled-coil and C2 domain containing 2A). [provided by Alliance of Genome Resources, Apr 2022]
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    Genomic context

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    See mks-6 in Genome Data Viewer
    Location:
    chromosome: I
    Exon count:
    16
    Sequence:
    Chromosome: I; NC_003279.8 (7160936..7166523)

    Chromosome I - NC_003279.8Genomic Context describing neighboring genes Neighboring gene CARMIL pleckstrin homology domain-containing protein Neighboring gene ncRNA Neighboring gene XPA C-terminal domain-containing protein Neighboring gene Ovate family protein Neighboring gene Cation efflux protein cytoplasmic domain-containing protein

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003279.8

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. Williams CL, et al. J Am Soc Nephrol, 2010 May. PMID 20150540, Free PMC Article
    2. Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins. Warburton-Pitt SR, et al. J Cell Sci, 2012 Jun 1. PMID 22393243, Free PMC Article
    3. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. Williams CL, et al. J Cell Biol, 2011 Mar 21. PMID 21422230, Free PMC Article
    4. The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate. Gonçalves J, et al. Mol Cells, 2017 Apr. PMID 28401750, Free PMC Article
    5. 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

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in non-motile cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to ciliary transition zone IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 dendrite terminus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    C2 domain-containing protein
    NP_492026.1
    • 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_003279.8 Reference assembly

      Range
      7160936..7166523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_059625.4 → NP_492026.1  C2 domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_492026.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q21303
      Conserved Domains (4) summary
      PTZ00121
      Location:595 → 692
      PTZ00121; MAEBL; Provisional
      PTZ00341
      Location:58 → 244
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      pfam15625
      Location:423 → 514
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      cl14603
      Location:698 → 782
      C2; C2 domain
    Nucleotide Protein
    Heading Accession and Version

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