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Aliases for TBC1D24 Gene

Aliases for TBC1D24 Gene

  • TBC1 Domain Family, Member 24 2 3
  • TBC/LysM-Associated Domain Containing 6 2 3
  • KIAA1171 4 6
  • EIEE16 3 6
  • DFNB86 3 6
  • DOORS 3 6
  • FIME 3 6
  • Deafness, Autosomal Recessive 86 2
  • Skywalker Homolog (Drosophila) 2
  • TBC1 Domain Family Member 24 3
  • Skywalker Homolog 3
  • DFNA65 3
  • TLDC6 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 deafness, autosomal dominant 65. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TBC1D24 Gene

Start:
2,475,132 bp from pter
End:
2,505,734 bp from pter
Size:
30,603 bases
Orientation:
Plus strand

Genomic View for TBC1D24 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9ULP9-TBC24_HUMAN
    Recommended name:
    TBC1 domain family member 24
    Protein Accession:
    Q9ULP9
    Secondary Accessions:
    • A0JNW3
    • B9A6M6
    • Q2KJ08

    Protein attributes for TBC1D24 Gene

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

    Alternative splice isoforms for TBC1D24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D24 Gene

Proteomics data for TBC1D24 Gene at MOPED

Post-translational modifications for TBC1D24 Gene

  • Ubiquitination at Lys36
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D24 Gene

No data available for DME Specific Peptides for TBC1D24 Gene

Domains for TBC1D24 Gene

Protein Domains for TBC1D24 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D24 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULP9

UniProtKB/Swiss-Prot:

TBC24_HUMAN :
  • Q9ULP9
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 --
GO:0005515 protein binding IPI 20727515
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

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for TBC1D24 Gene COMPARTMENTS Subcellular localization image for TBC1D24 gene
Compartment Confidence
cytosol 3
nucleus 2
peroxisome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TBC1D24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20727515
GO:0031594 neuromuscular junction ISS --
GO:0043195 terminal bouton ISS --
genes like me logo Genes that share ontologies with TBC1D24: view

Pathways 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000293970%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000293970 Q9ULP9-TBC24_HUMAN for TBC1D24 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TBC1D24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031175 neuron projection development IMP 20727515
GO:0043547 positive regulation of GTPase activity IEA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D24: view

No data available for Pathways by source for TBC1D24 Gene

Transcripts for TBC1D24 Gene

Unigene Clusters for TBC1D24 Gene

TBC1 domain family, member 24:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D24

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TBC1D24

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1:
SP2:
SP3:

Relevant External Links for TBC1D24 Gene

GeneLoc Exon Structure for
TBC1D24
ECgene alternative splicing isoforms for
TBC1D24

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 (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D24 Gene

SOURCE GeneReport for Unigene cluster for TBC1D24 Gene Hs.353087

mRNA Expression by UniProt/SwissProt for TBC1D24 Gene

Q9ULP9-TBC24_HUMAN
Tissue specificity: Highest expression in brain.
genes like me logo Genes that share expressions with TBC1D24: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia TBC1D24 35
  • 99.64 (n)
  • 100 (a)
TBC1D24 36
  • 100 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 90 (a)
OneToMany
TBC1D24 35
  • 87.78 (n)
  • 90.25 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 92 (a)
OneToMany
TBC1D24 35
  • 89.45 (n)
  • 92.49 (a)
mouse
(Mus musculus)
Mammalia Tbc1d24 35
  • 85.45 (n)
  • 92.49 (a)
Tbc1d24 16
Tbc1d24 36
  • 92 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tbc1d24 35
  • 87.1 (n)
  • 93.49 (a)
chicken
(Gallus gallus)
Aves TBC1D24 35
  • 75.64 (n)
  • 80.55 (a)
TBC1D24 36
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18563 35
tbc1d24.1 35
  • 70.38 (n)
  • 75.55 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100536073 35
  • 65.49 (n)
  • 63.64 (a)
TBC1D24 36
  • 56 (a)
OneToMany
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)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-7 35
  • 40.99 (n)
  • 30 (a)
tbc-7 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TBC1D24 (if available)
TreeFam:
Gene Tree for TBC1D24 (if available)

Paralogs for TBC1D24 Gene

Paralogs for TBC1D24 Gene

Selected 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 MAF
rs2680 -- 2,503,277(-) AAAAG(C/G)CTTCT utr-variant-3-prime, downstream-variant-500B
rs1133293 -- 2,482,131(+) CTCCC(A/T)GTTGT intron-variant, upstream-variant-2KB
rs1135527 -- 2,505,437(+) ACTGG(C/T)AAAAA utr-variant-3-prime
rs3810796 -- 2,496,556(+) CCGGC(C/T)GTGGT reference, synonymous-codon
rs3810797 -- 2,501,679(+) TGGAG(A/G)GGGAT utr-variant-3-prime, intron-variant

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

Relevant External Links for TBC1D24 Gene

HapMap Linkage Disequilibrium report
TBC1D24
Human Gene Mutation Database (HGMD)
TBC1D24

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

Disorders for TBC1D24 Gene

(4) OMIM Diseases for TBC1D24 Gene (613577)

UniProtKB/Swiss-Prot

TBC24_HUMAN
  • 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.
  • 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.
  • 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, 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.
  • 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.

(1) University of Copenhagen DISEASES for TBC1D24 Gene

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

Publications for TBC1D24 Gene

  1. 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
  2. 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
  3. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. (PMID: 24729539) Azaiez H. … Smith R.J. (Hum. Mutat. 2014) 2 3 4
  4. A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. (PMID: 24729547) Zhang L. … Wu H. (Hum. Mutat. 2014) 3 4
  5. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4

Products for TBC1D24 Gene

Sources for TBC1D24 Gene

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