Gene

tbc1d23

ID
ZDB-GENE-040426-1253
Name
TBC1 domain family, member 23
Symbol
tbc1d23 Nomenclature History
Previous Names
  • zgc:63756 (1)
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Involved in embryonic brain development. Acts upstream of or within brain development. Predicted to be located in cytoplasmic vesicle. Predicted to be active in trans-Golgi network. Is expressed in head. Used to study pontocerebellar hypoplasia. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 11. Orthologous to human TBC1D23 (TBC1 domain family member 23).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa13842Allele with one point mutationUnknownPremature StopENU
sa17445Allele with one point mutationUnknownPremature StopENU
sa26757Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-tbc1d23N/A (5)
MO2-tbc1d23N/A (2)
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Human Disease
Associated With tbc1d23 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
pontocerebellar hypoplasia type 11 Alliance Pontocerebellar hypoplasia, type 11 617695
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Associated With tbc1d23 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000195 Rab-GAP-TBC domain
Domain IPR001763 Rhodanese-like domain
Domain IPR045799 TBC1 domain family member 23, C-terminal domain
Family IPR039755 TBC1 domain family member 23
Homologous_superfamily IPR035969 Rab-GAP-TBC domain superfamily
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Domain Details Per Protein
Protein Additional Resources Length Rab-GAP-TBC domain Rab-GAP-TBC domain superfamily Rhodanese-like domain Rhodanese-like domain superfamily TBC1 domain family member 23 TBC1 domain family member 23, C-terminal domain
UniProtKB:A0A8M2BD99 InterPro 695
UniProtKB:Q7SXV1 InterPro 680
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 6
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA tbc1d23-201 (1) Ensembl 3,273 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-11H2ZFIN Curated Data
EncodesESTIMAGE:6912731Thisse et al., 2004
EncodescDNAMGC:63756ZFIN Curated Data
EncodescDNAMGC:198133ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanTBC1D233
Amino acid sequence comparison (3)
Conserved genome location (synteny) (2)
Functional complementation (1)
MouseTbc1d2316
Conserved genome location (synteny) (1)
Amino acid sequence comparison (3)
Citations
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