ZFIN ID: ZDB-GENE-040426-1253
Gene Name: TBC1 domain family, member 23
Gene Symbol: tbc1d23    Nomenclature History

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Previous Name: zgc:63756 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 6 Mapping Details/Browsers
Description: Involved in brain development and embryonic brain development. Predicted to localize to cytoplasmic vesicle and trans-Golgi network. Is expressed in head. Used to study pontocerebellar hypoplasia. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia. Orthologous to human TBC1D23 (TBC1 domain family member 23).
Genome Resources: Alliance (1),  Gene:798995 (1),  Ensembl(GRCz11):ENSDARG00000044357 (1)
GENE EXPRESSION
All Expression Data: 3 figures from 2 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [MGC:63756]
  1 figure (1 image) from Thisse et al., 2004 [IMAGE:6912731]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Larval:Day 4 (96.0h-120.0h)
 
High Throughput Expression: GEO (1) Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa13842 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17445 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa26757 Point Mutation Unknown Splice Site ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-tbc1d23 N/A 2
    MO2-tbc1d23 N/A 2
    DISEASE ASSOCIATED WITH tbc1d23 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Pontocerebellar hypoplasia, type 11 617695
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process brain development (more)
    Cellular Component cytoplasmic vesicle (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA tbc1d23-201 (1)    Ensembl 3273
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM tbc1d23 No data available
    MARKER RELATIONSHIPS
    tbc1d23 Contained in: [BAC] DKEY-11H2 (1) (order this)
    tbc1d23 Encodes: [EST] IMAGE:6912731 (1)
    [cDNA] MGC:63756 (1), MGC:198133 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_200487 (1) 3300 nt
    Genomic GenBank:BX004878 (1) 254657 nt Blast at MegaBLAST
    Polypeptide UniProtKB:E7EY66 (1) 695 aa
    Sequence Information (all 22)
    ORTHOLOGY for tbc1d23 ( Chr: 6 )
    CITATIONS (23)