Gene

tbc1d24

ID
ZDB-GENE-050809-65
Name
TBC1 domain family, member 24
Symbol
tbc1d24 Nomenclature History
Previous Names
  • im:7158380
  • si:ch73-171a6.3
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to be involved in dendrite development; neuromuscular synaptic transmission; and synaptic vesicle recycling via endosome. Predicted to be located in cytoplasmic vesicle; membrane; and synapse. Predicted to be active in several cellular components, including neuromuscular junction; postsynapse; and terminal bouton. Human ortholog(s) of this gene implicated in DOORS syndrome; epilepsy (multiple); and nonsyndromic deafness (multiple). Orthologous to human TBC1D24 (TBC1 domain family member 24).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tbc1d24 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 65 Alliance Deafness, autosomal dominant 65 616044
autosomal recessive nonsyndromic deafness 86 Alliance Deafness, autosomal recessive 86 614617
developmental and epileptic encephalopathy 16 Alliance Developmental and epileptic encephalopathy 16 615338
DOORS syndrome Alliance DOORS syndrome 220500
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Alliance Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp 608105
Myoclonic epilepsy, infantile, familial 605021
Associated With tbc1d24 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000195 Rab-GTPase-TBC domain
Domain IPR006571 TLDc domain
Homologous_superfamily IPR035969 Rab-GTPase-TBC domain superfamily
Domain Details Per Protein
Protein Length Rab-GTPase-TBC domain Rab-GTPase-TBC domain superfamily TLDc domain
UniProtKB:A0A2R8RKG9 560
UniProtKB:A0A2R8PYK5 571
UniProtKB:A0A2R8QFZ9 558
UniProtKB:E7FCR8 606
UniProtKB:A0A2R8QFG4 554
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