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 located in cytoplasmic vesicle membrane; endomembrane system; and synapse. Predicted to be active in plasma membrane. 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
2 figures from 2 publications
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
Allele Type Localization Consequence Mutagen Supplier
sa9108Allele with one point mutationUnknownSplice SiteENU
European Zebrafish Resource Center (EZRC) (order this)
Zebrafish International Resource Center (ZIRC) (order this)
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Sequence Targeting Reagents
No data available
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 paroxysmal exercise-induce dystonia and writer's cramp 608105
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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-GAP-TBC domain
Domain IPR006571 TLDc domain
Homologous_superfamily IPR035969 Rab-GAP-TBC domain superfamily
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Domain Details Per Protein
Protein Length Rab-GAP-TBC domain Rab-GAP-TBC domain superfamily TLDc domain
UniProtKB:A0A8M1RN56
InterPro
606
UniProtKB:A0A8M3B6W1
InterPro
610
UniProtKB:A0A8M9PMI2
InterPro
569
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 24
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA tbc1d24-201 (1)
Ensembl
Ensembl 6,167 nt
ZFIN BLAST
mRNA tbc1d24-202 (1)
Ensembl
Ensembl 1,665 nt
ZFIN BLAST
mRNA tbc1d24-203 (1)
Ensembl
Ensembl 1,716 nt
ZFIN BLAST
mRNA tbc1d24-204 (1)
Ensembl
Ensembl 1,683 nt
ZFIN BLAST
mRNA tbc1d24-205 (1)
Ensembl
Ensembl 1,677 nt
ZFIN BLAST
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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 inBACCH73-171A6ZFIN Curated Data
EncodesESTIMAGE:7158380Thisse et al., 2004
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Sequences
Type Accession # Sequence Length (nt/aa) Analysis
RNARefSeq:XM_068217261 (1)6234 nt
ZFIN BLASTNCBI BLASTEnsemblUCSC BLAT
GenomicGenBank:CU929145 (1)90957 nt
MegaBLASTEnsembl
PolypeptideUniProtKB:A0A8M3B6W1 (1)610 aa
ZFIN BLASTSIB BLASTEnsembl Protein Blast
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanTBC1D2416
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
MouseTbc1d2417
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
TSV
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