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mksr-2 B9 domain-containing protein 2 [ Caenorhabditis elegans ]

Gene ID: 189676, updated on 2-Nov-2024

Summary

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Official Symbol
mksr-2
Official Full Name
B9 domain-containing protein 2
Primary source
WormBase:WBGene00021416
Locus tag
CELE_Y38F2AL.2
See related
AllianceGenome:WB:WBGene00021416
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 several processes, including determination of adult lifespan; larval foraging behavior; and non-motile cilium assembly. Located in ciliary basal body; ciliary transition zone; and dendrite terminus. Is expressed in neurons. Used to study Joubert syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Joubert syndrome. Orthologous to human B9D2 (B9 domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See mksr-2 in Genome Data Viewer
Location:
chromosome: IV
Exon count:
4
Sequence:
Chromosome: IV; NC_003282.8 (2304292..2306547, complement)

Chromosome IV - NC_003282.8Genomic Context describing neighboring genes Neighboring gene ETS domain-containing protein Neighboring gene ncRNA Neighboring gene V-type proton ATPase subunit C Neighboring gene ncRNA Neighboring gene V-type proton ATPase 16 kDa proteolipid subunit 2/3

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_003282.8

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans. Masyukova SV, et al. Hum Mol Genet, 2011 Aug 1. PMID 21546380, Free PMC Article
  2. The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly in C. elegans. Schouteden C, et al. J Cell Biol, 2015 Jul 6. PMID 26124290, Free PMC Article
  3. 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
  4. Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. Williams CL, et al. Mol Biol Cell, 2008 May. PMID 18337471, Free PMC Article
  5. A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4. Masyukova SV, et al. PLoS Genet, 2016 Feb. PMID 26863025, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by WormBase

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 determination of adult lifespan IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in larval foraging behavior IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in non-motile cilium assembly IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to ciliary transition zone IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite 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
B9 domain-containing protein 2
NP_500186.1
  • 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_003282.8 Reference assembly

    Range
    2304292..2306547 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_067785.3 → NP_500186.1  B9 domain-containing protein 2 [Caenorhabditis elegans]

    See identical proteins and their annotated locations for NP_500186.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    Q9N423
    Conserved Domains (1) summary
    pfam07162
    Location:10 → 163
    B9-C2; Ciliary basal body-associated, B9 protein
Nucleotide Protein
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