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Tbio
TBC1D24
TBC1 domain family member 24

Protein Summary
Description
May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000293970
  • ENSP00000293970
  • ENSG00000162065
  • ENST00000567020
  • ENSP00000454408
  • ENST00000569874
  • ENSP00000455005
  • ENST00000627285
  • ENSP00000486121
  • ENST00000646147
  • ENSP00000494678

Symbol
  • KIAA1171
  • FIME
  • DOORS
  • TLDC6
  • DFNA65
  • DFNB86
  • EIEE16
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
phenotype
0.94
transcription factor binding site profile
0.82
transcription factor
0.8
transcription factor perturbation
0.8
virus perturbation
0.76


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 69.37   (req: < 5)
Gene RIFs: 18   (req: <= 3)
Antibodies: 58   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 69.37   (req: >= 5)
Gene RIFs: 18   (req: > 3)
Antibodies: 58   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
1
1
13.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
13.2
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
TBC1 domain family member 24
VGNC:51230
467874
Macaque
TBC1 domain family member 24 [Source:RefSeq peptide;Acc:NP_001244494]
Mouse
MGI:2443456
224617
Rat
RGD:1306143
287110
Dog
TBC1 domain family member 24
609726
Species
Name
OMA
EggNOG
Inparanoid
Chimp
TBC1 domain family member 24
Macaque
TBC1 domain family member 24 [Source:RefSeq peptide;Acc:NP_001244494]
Mouse
Rat
Dog
TBC1 domain family member 24
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9ULP9-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (4)
Membrane Trafficking (R-HSA-199991)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Membrane Trafficking
Reactome
Rab regulation of trafficking
Reactome
TBC/RABGAPs
Reactome
Vesicle-mediated transport
Name
Explore in Pharos
Explore in Source
Membrane Trafficking
Rab regulation of trafficking
TBC/RABGAPs
Vesicle-mediated transport
Gene Ontology Terms (8)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (50)
1 – 10 of 50
TMEM185A
Tdark
Novelty: 0.0262898
p_int: 0.999914735
p_ni: 0.000085263
p_wrong: 1e-9
Data Source: BioPlex
NFKBIA
Tchem
Novelty: 0.00022873
p_int: 0.999191717
p_ni: 0.000771686
p_wrong: 0.000036597
Score: 0.191
Data Source: BioPlex,STRINGDB
TNFAIP3
Tbio
Novelty: 0.00257088
p_int: 0.998640202
p_ni: 0.000142246
p_wrong: 0.001217552
Score: 0.165
Data Source: BioPlex,STRINGDB
ATP6V1D
Tbio
Family: Enzyme
Novelty: 0.02298626
p_int: 0.997598121
p_ni: 0.002149242
p_wrong: 0.000252637
Data Source: BioPlex
S1PR4
Tclin
Family: GPCR
Novelty: 0.01523676
p_int: 0.996766898
p_ni: 0.003057862
p_wrong: 0.00017524
Score: 0.269
Data Source: BioPlex,STRINGDB
FGB
Tbio
Novelty: 0.00437751
p_int: 0.996766898
p_ni: 0.003057862
p_wrong: 0.00017524
Data Source: BioPlex
GNG2
Tbio
Novelty: 0.04807242
p_int: 0.993138917
p_ni: 0.00662942
p_wrong: 0.000231664
Data Source: BioPlex
SLC6A5
Tchem
Family: Transporter
Novelty: 0.00387587
p_int: 0.965425722
p_ni: 0.031052098
p_wrong: 0.00352218
Score: 0.226
Data Source: BioPlex,STRINGDB
TLR1
Tbio
Novelty: 0.00171909
p_int: 0.965425722
p_ni: 0.031052098
p_wrong: 0.00352218
Score: 0.188
Data Source: BioPlex,STRINGDB
ACBD7
Tdark
Novelty: 0.32019061
p_int: 0.957005183
p_ni: 0.007619771
p_wrong: 0.035375046
Score: 0.201
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score  69.37

PubMed score by year
PubTator Score  47.07

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer