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    Ttc21b tetratricopeptide repeat domain 21B [ Mus musculus (house mouse) ]

    Gene ID: 73668, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ttc21bprovided by MGI
    Official Full Name
    tetratricopeptide repeat domain 21Bprovided by MGI
    Primary source
    MGI:MGI:1920918
    See related
    Ensembl:ENSMUSG00000034848 AllianceGenome:MGI:1920918
    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
    aln; Thm1; mKIAA1992; 2410066K11Rik
    Summary
    Enables chromatin binding activity. Acts upstream of or within several processes, including central nervous system development; intraciliary retrograde transport; and regulation of signal transduction. Part of intraciliary transport particle A. Is expressed in central nervous system; embryo ectoderm; limb; and somite. Used to study cystic kidney disease. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 4 and nephronophthisis 12. Orthologous to human TTC21B (tetratricopeptide repeat domain 21B). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 13.3), CNS E14 (RPKM 4.5) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ttc21b in Genome Data Viewer
    Location:
    2 C1.3; 2 39.08 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (66014131..66087144, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (66183787..66256674, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene cysteine-serine-rich nuclear protein 3 Neighboring gene predicted gene, 52514 Neighboring gene STARR-seq mESC enhancer starr_04694 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 3 Neighboring gene STARR-seq mESC enhancer starr_04695 Neighboring gene STARR-positive B cell enhancer mm9_chr2:66094546-66094847 Neighboring gene sodium channel, voltage-gated, type I, alpha Neighboring gene predicted gene 13630 Neighboring gene ribosomal protein L35, pseudogene 1 Neighboring gene predicted gene 13629

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Bergmann glial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cerebellar Purkinje cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cerebellum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forebrain dorsal/ventral pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within intraciliary retrograde transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intraciliary retrograde transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of eating behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein localization to non-motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of intraciliary retrograde transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of intraciliary retrograde transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ventricular system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intraciliary transport particle A ISO
    Inferred from Sequence Orthology
    more info
     
    part_of intraciliary transport particle A ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    tetratricopeptide repeat protein 21B
    Names
    TPR repeat protein 21B
    intraflagellar transport 139 homolog
    line 158
    tetratricopeptide repeat-containing hedgehog modulator 1

    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_001047604.3NP_001041069.1  tetratricopeptide repeat protein 21B isoform a

      See identical proteins and their annotated locations for NP_001041069.1

      Status: VALIDATED

      Source sequence(s)
      AL844526, AL928586
      Consensus CDS
      CCDS16076.1
      UniProtKB/Swiss-Prot
      Q0HA38, Q3V1U7, Q69Z46
      Related
      ENSMUSP00000099779.4, ENSMUST00000102718.10
      Conserved Domains (4) summary
      sd00006
      Location:883911
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:721754
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:720783
      TPR_11; TPR repeat
      pfam14559
      Location:895960
      TPR_19; Tetratricopeptide repeat
    2. NM_001290669.2NP_001277598.1  tetratricopeptide repeat protein 21B isoform b

      Status: VALIDATED

      Source sequence(s)
      AL844526, AL928586
      Consensus CDS
      CCDS71061.1
      UniProtKB/TrEMBL
      E9PVK4
      Related
      ENSMUSP00000131758.2, ENSMUST00000125446.3
      Conserved Domains (4) summary
      sd00006
      Location:883911
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:721754
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:720783
      TPR_11; TPR repeat
      pfam14559
      Location:895960
      TPR_19; Tetratricopeptide repeat

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      66014131..66087144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252122.2XP_030107982.1  tetratricopeptide repeat protein 21B isoform X2

      Conserved Domains (2) summary
      TIGR02917
      Location:3131048
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:883911
      TPR; TPR repeat [structural motif]
    2. XM_006500263.5XP_006500326.1  tetratricopeptide repeat protein 21B isoform X1

      Conserved Domains (2) summary
      TIGR02917
      Location:3131048
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:883911
      TPR; TPR repeat [structural motif]