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    Tctn2 tectonic family member 2 [ Mus musculus (house mouse) ]

    Gene ID: 67978, updated on 2-Nov-2024

    Summary

    Official Symbol
    Tctn2provided by MGI
    Official Full Name
    tectonic family member 2provided by MGI
    Primary source
    MGI:MGI:1915228
    See related
    Ensembl:ENSMUSG00000118662 AllianceGenome:MGI:1915228
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tect2; 4432405B04Rik
    Summary
    Involved in cilium assembly; protein localization to ciliary transition zone; and smoothened signaling pathway. Located in ciliary transition zone. Part of MKS complex. Is expressed in several structures, including central nervous system; retina; and turbinate bone primordium. Human ortholog(s) of this gene implicated in Joubert syndrome 24 and Meckel syndrome 8. Orthologous to human TCTN2 (tectonic family member 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 73.9), ovary adult (RPKM 14.6) and 16 other tissues See more
    Orthologs
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    Genomic context

    See Tctn2 in Genome Data Viewer
    Location:
    5 63.68 cM; 5 F
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (124736812..124765803)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (124598749..124627738)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8083 Neighboring gene eukaryotic translation initiation factor 2B, subunit alpha Neighboring gene general transcription factor IIH, polypeptide 3 Neighboring gene STARR-positive B cell enhancer ABC_E10353 Neighboring gene STARR-seq mESC enhancer starr_14344 Neighboring gene STARR-positive B cell enhancer mm9_chr5:125079413-125079714 Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit A2 Neighboring gene dynein, axonemal, heavy chain 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in smoothened signaling pathway 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
     
    part_of MKS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_026486.3NP_080762.1  tectonic-2 precursor

      See identical proteins and their annotated locations for NP_080762.1

      Status: VALIDATED

      Source sequence(s)
      AK014476, AK031829
      UniProtKB/Swiss-Prot
      Q2MV57, Q6PDZ5, Q8C0B3, Q9CXF5
      Related
      ENSMUSP00000159383.2, ENSMUST00000239501.2
      Conserved Domains (1) summary
      pfam07773
      Location:171442
      DUF1619; Protein of unknown function (DUF1619)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      124736812..124765803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)