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Aliases for TBC1D24 Gene

Aliases for TBC1D24 Gene

  • TBC1 Domain Family Member 24 2 3 5
  • TBC/LysM-Associated Domain Containing 6 2 3
  • TBC1 Domain Family, Member 24 2 3
  • Deafness, Autosomal Recessive 86 2
  • Skywalker Homolog (Drosophila) 2
  • Skywalker Homolog 3
  • KIAA1171 4
  • DFNA65 3
  • EIEE16 3
  • DFNB86 3
  • DOORS 3
  • TLDC6 3
  • FIME 3

External Ids for TBC1D24 Gene

Previous HGNC Symbols for TBC1D24 Gene

  • DFNB86

Previous GeneCards Identifiers for TBC1D24 Gene

  • GC16P002487
  • GC16P002526

Summaries for TBC1D24 Gene

Entrez Gene Summary for TBC1D24 Gene

  • 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]

GeneCards Summary for TBC1D24 Gene

TBC1D24 (TBC1 Domain Family Member 24) is a Protein Coding gene. Diseases associated with TBC1D24 include Epileptic Encephalopathy, Early Infantile, 16 and Myoclonic Epilepsy, Infantile, Familial. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ENSG00000260272.

UniProtKB/Swiss-Prot for TBC1D24 Gene

  • May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D24 Gene

Genomics for TBC1D24 Gene

Regulatory Elements for TBC1D24 Gene

Enhancers for TBC1D24 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBC1D24 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D24 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D24 Gene

2,475,118 bp from pter
2,505,734 bp from pter
30,617 bases
Plus strand

Genomic View for TBC1D24 Gene

Genes around TBC1D24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D24 Gene

Proteins for TBC1D24 Gene

  • Protein details for TBC1D24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TBC1 domain family member 24
    Protein Accession:
    Secondary Accessions:
    • A0JNW3
    • B9A6M6
    • Q2KJ08

    Protein attributes for TBC1D24 Gene

    559 amino acids
    Molecular mass:
    62919 Da
    Quaternary structure:
    • Interacts with ARF6.
    • Sequence=BAA86485.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D24 Gene


neXtProt entry for TBC1D24 Gene

Proteomics data for TBC1D24 Gene at MOPED

Post-translational modifications for TBC1D24 Gene

  • Ubiquitination at Lys 36
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D24 Gene

No data available for DME Specific Peptides for TBC1D24 Gene

Domains & Families for TBC1D24 Gene

Protein Domains for TBC1D24 Gene


Suggested Antigen Peptide Sequences for TBC1D24 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Rab-GAP TBC domain.
  • Contains 1 Rab-GAP TBC domain.
  • Contains 1 TLD domain.
genes like me logo Genes that share domains with TBC1D24: view

No data available for Gene Families for TBC1D24 Gene

Function for TBC1D24 Gene

Molecular function for TBC1D24 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function.

Gene Ontology (GO) - Molecular Function for TBC1D24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with TBC1D24: view

Phenotypes for TBC1D24 Gene

GenomeRNAi human phenotypes for TBC1D24:
genes like me logo Genes that share phenotypes with TBC1D24: view

Human Phenotype Ontology for TBC1D24 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D24 Gene

Localization for TBC1D24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D24 Gene

Cytoplasm. Note=Partially expressed at the plasma membrane.

Subcellular locations from

Jensen Localization Image for TBC1D24 Gene COMPARTMENTS Subcellular localization image for TBC1D24 gene
Compartment Confidence
cytosol 2
nucleus 2
peroxisome 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for TBC1D24 Gene

Pathways & Interactions for TBC1D24 Gene

SuperPathways for TBC1D24 Gene

No Data Available

Interacting Proteins for TBC1D24 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000293970 Q9ULP9-TBC24_HUMAN for TBC1D24 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TBC1D24 Gene


No data available for Pathways by source and SIGNOR curated interactions for TBC1D24 Gene

Drugs & Compounds for TBC1D24 Gene

No Compound Related Data Available

Transcripts for TBC1D24 Gene

Unigene Clusters for TBC1D24 Gene

TBC1 domain family, member 24:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D24 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b

Relevant External Links for TBC1D24 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBC1D24 Gene

mRNA expression in normal human tissues for TBC1D24 Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D24 Gene

This gene is overexpressed in Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for TBC1D24 Gene

This gene is overexpressed in Frontal cortex (10.8), Skin (9.8), Retina (9.2), and Salivary gland (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for TBC1D24 Gene

SOURCE GeneReport for Unigene cluster for TBC1D24 Gene Hs.353087

mRNA Expression by UniProt/SwissProt for TBC1D24 Gene

Tissue specificity: Highest expression in brain.
genes like me logo Genes that share expression patterns with TBC1D24: view

Protein tissue co-expression partners for TBC1D24 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TBC1D24 Gene

Orthologs for TBC1D24 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBC1D24 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TBC1D24 35
  • 87.78 (n)
  • 90.25 (a)
-- 36
  • 90 (a)
(Canis familiaris)
Mammalia TBC1D24 35
  • 89.45 (n)
  • 92.49 (a)
-- 36
  • 92 (a)
(Mus musculus)
Mammalia Tbc1d24 35
  • 85.45 (n)
  • 92.49 (a)
Tbc1d24 16
Tbc1d24 36
  • 92 (a)
(Pan troglodytes)
Mammalia TBC1D24 35
  • 99.64 (n)
  • 100 (a)
TBC1D24 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tbc1d24 35
  • 87.1 (n)
  • 93.49 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
(Gallus gallus)
Aves TBC1D24 35
  • 75.64 (n)
  • 80.55 (a)
TBC1D24 36
  • 78 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18563 35
tbc1d24.1 35
  • 70.38 (n)
  • 75.55 (a)
(Danio rerio)
Actinopterygii LOC100536073 35
  • 65.49 (n)
  • 63.64 (a)
TBC1D24 36
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010235 35
  • 45.09 (n)
  • 36.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta sky 35
  • 48.73 (n)
  • 36.14 (a)
sky 36
  • 26 (a)
(Caenorhabditis elegans)
Secernentea tbc-7 35
  • 40.99 (n)
  • 30 (a)
tbc-7 36
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
Species with no ortholog for TBC1D24:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D24 Gene

Gene Tree for TBC1D24 (if available)
Gene Tree for TBC1D24 (if available)

Paralogs for TBC1D24 Gene

Paralogs for TBC1D24 Gene

(1) SIMAP similar genes for TBC1D24 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TBC1D24: view

Variants for TBC1D24 Gene

Sequence variations from dbSNP and Humsavar for TBC1D24 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_064365 Familial infantile myoclonic epilepsy (FIME)
VAR_064366 Familial infantile myoclonic epilepsy (FIME)
VAR_064367 Familial infantile myoclonic epilepsy (FIME)
VAR_070102 Epileptic encephalopathy, early infantile, 16 (EIEE16)
rs72768728 - 2,497,033(+) CTCTT(C/G)TCCCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TBC1D24 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2545n71 CNV Loss 21882294
nsv905139 CNV Loss 21882294
nsv833121 CNV Loss 17160897
dgv2569n71 CNV Loss 21882294
dgv2570n71 CNV Loss 21882294
nsv905149 CNV Loss 21882294
nsv905152 CNV Loss 21882294
nsv905153 CNV Loss 21882294
esv29545 CNV Loss 19812545
dgv793e1 CNV Complex 17122850
nsv833122 CNV Loss 17160897
nsv827514 CNV Loss 20364138
dgv457n67 CNV Gain 20364138
nsv827516 CNV Gain 20364138
esv2675949 CNV Deletion 23128226

Variation tolerance for TBC1D24 Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D24 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D24 Gene

Disorders for TBC1D24 Gene

MalaCards: The human disease database

(29) MalaCards diseases for TBC1D24 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 16
  • epileptic encephalopathy, early infantile 16
myoclonic epilepsy, infantile, familial
  • familial infantile myoclonic epilepsy
deafness , autosomal recessive 86
  • deafness, autosomal recessive 86
deafness, autosomal dominant 65
  • deafness, autosomal dominant, 65
door syndrome
  • digitorenocerebral syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Deafness, autosomal dominant, 65 (DFNA65) [MIM:616044]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA65 is characterized by post-lingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal. {ECO:0000269 PubMed:24729539, ECO:0000269 PubMed:24729547}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]: A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. {ECO:0000269 PubMed:24387994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]: A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. {ECO:0000269 PubMed:24291220}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]: A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. {ECO:0000269 PubMed:23526554}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial infantile myoclonic epilepsy (FIME) [MIM:605021]: A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. {ECO:0000269 PubMed:20727515, ECO:0000269 PubMed:20797691}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBC1D24

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TBC1D24: view

No data available for Genatlas for TBC1D24 Gene

Publications for TBC1D24 Gene

  1. Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. (PMID: 24387994) Rehman A.U. … Friedman T.B. (Am. J. Hum. Genet. 2014) 2 3 4 67
  2. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. (PMID: 24729539) Azaiez H. … Smith R.J. (Hum. Mutat. 2014) 2 3
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3
  4. Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. (PMID: 25557349) StraA3iA!ar B.G. … Writzl K. (Eur. J. Paediatr. Neurol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for TBC1D24 Gene

Sources for TBC1D24 Gene