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 brain development and embryonic brain development. Predicted to localize to cytoplasmic vesicle and trans-Golgi network. Used to study pontocerebellar hypoplasia. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia. Is expressed in head. 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
6 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
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
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
Homologous_superfamily IPR036873 Rhodanese-like domain superfamily
Domain Details Per Protein
Protein 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 695
UniProtKB:Q7SXV1 680
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations