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mks-6 C2 domain-containing protein [ Caenorhabditis elegans ]

Gene ID: 187121, updated on 9-Dec-2024

Summary

Official Symbol
mks-6
Official Full Name
C2 domain-containing protein
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. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A) and CC2D2B (coiled-coil and C2 domain containing 2B). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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

General gene information

Gene Ontology Provided by WormBase

Component Evidence Code Pubs
is_active_in ciliary transition zone  
located_in ciliary transition zone PubMed 
located_in dendrite terminus PubMed 

General protein information

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_059625.4NP_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:595692
    PTZ00121; MAEBL; Provisional
    PTZ00341
    Location:58244
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    pfam15625
    Location:423514
    CC2D2AN-C2; CC2D2A N-terminal C2 domain
    cl14603
    Location:698782
    C2; C2 domain
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