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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
  • Deafness, Autosomal Recessive 86 2
  • Skywalker Homolog (Drosophila) 2
  • TBC1 Domain Family, Member 24 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. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G002511 1.9 FANTOM5 Ensembl ENCODE dbSUPER 26.9 +41.4 41402 10.7 HDGF PKNOX1 ARNT CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 TBC1D24 IFT140 CLUAP1 ZNF213-AS1 RNPS1 JPT2 ZNF174 MTRNR2L4 ZNF263 MTND1P8
GH16G002500 1.5 Ensembl ENCODE dbSUPER 24.8 +27.1 27110 3.2 HDGF ATF1 SIN3A ARID4B ZNF2 GLIS2 ZNF143 SP3 REST NFIL3 TBC1D24 CCNF ENSG00000261613 ERVK13-1 GC16M002495 ATP6V0C
GH16G002485 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.2 +12.3 12273 2.8 PKNOX1 ARNT WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF143 ZNF207 FOS TBC1D24 AMDHD2 PDPK1 GC16P002483 ENSG00000260272
GH16G002506 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21 +33.7 33744 4.4 PKNOX1 RAD21 ZNF143 RELB IKZF2 EGR2 ZNF654 CBFB USF2 GATAD2B TBC1D24 PDPK1 CEMP1 ABCA3 ABCA17P CCNF SRRM2 ATP6V0C GC16M002495
GH16G002481 1.6 Ensembl ENCODE dbSUPER 20.2 +8.4 8407 4.1 HNRNPUL1 HDGF FOXA2 PKNOX1 AGO1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 TBC1D24 GC16P002483 ENSG00000260272
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000279447 -351 2201 FOXA2 AGO1 SIN3A ARID4B DMAP1 YY1 ZNF143 ZNF263 SP3 SP5
ENSR00000279447 -446 2201 FOXA2 AGO1 SIN3A ARID4B DMAP1 YY1 ZNF143 ZNF263 SP3 SP5

Genomic Location for TBC1D24 Gene

Chromosome:
16
Start:
2,475,051 bp from pter
End:
2,509,560 bp from pter
Size:
34,510 bases
Orientation:
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:
    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

Post-translational modifications for TBC1D24 Gene

  • Ubiquitination at isoforms=236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBC1D24 Gene

Domains & Families for TBC1D24 Gene

Gene Families for TBC1D24 Gene

Protein Domains for TBC1D24 Gene

Suggested Antigen Peptide Sequences for TBC1D24 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

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

Inhibitory RNA Products

Clone 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D24 gene
Compartment Confidence
plasma membrane 4
peroxisome 2
nucleus 2
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TBC1D24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 20727515
GO:0005886 plasma membrane IDA --
GO:0030054 cell junction IDA --
GO:0031594 neuromuscular junction ISS --
GO:0043195 terminal bouton ISS --
genes like me logo Genes that share ontologies with TBC1D24: view

Pathways & Interactions for TBC1D24 Gene

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

Pathways by source for TBC1D24 Gene

3 Reactome pathways for TBC1D24 Gene

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 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for TBC1D24 Gene



Protein tissue co-expression partners for TBC1D24 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D24 Gene:

TBC1D24

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.

Evidence on tissue expression from TISSUES for TBC1D24 Gene

  • Nervous system(4.5)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D24 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • heart
  • heart valve
Abdomen:
  • abdominal wall
Limb:
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TBC1D24: view

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
chimpanzee
(Pan troglodytes)
Mammalia TBC1D24 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 92 (a)
OneToMany
TBC1D24 34
  • 89.45 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 90 (a)
OneToMany
TBC1D24 34
  • 87.78 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d24 34
  • 87.1 (n)
mouse
(Mus musculus)
Mammalia Tbc1d24 34 16 35
  • 85.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves TBC1D24 34 35
  • 75.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 77 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d24.1 34
  • 70.38 (n)
Str.18563 34
zebrafish
(Danio rerio)
Actinopterygii LOC100536073 34
  • 65.49 (n)
TBC1D24 35
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sky 34 35
  • 48.73 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010235 34
  • 45.09 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-7 34 35
  • 40.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToMany
Species where no ortholog for TBC1D24 was found in the sources mined by GeneCards:
  • 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

(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
rs199700840 Pathogenic, Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617] 2,497,026(+) CATCC(A/C/G)CCTCT nc-transcript-variant, reference, missense
rs201257588 Pathogenic, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500] 2,496,206(+) CCATC(C/G/T)AGGAC nc-transcript-variant, reference, missense, stop-gained
rs267607103 Pathogenic, Familial infantile myoclonic epilepsy (FIME) [MIM:605021] 2,496,587(+) GCATC(A/C/G)ACGAG nc-transcript-variant, reference, missense
rs267607104 Pathogenic, Familial infantile myoclonic epilepsy (FIME) [MIM:605021] 2,496,899(+) AGTTC(C/T)TCCAC nc-transcript-variant, reference, missense
rs267607105 Pathogenic, Familial infantile myoclonic epilepsy (FIME) [MIM:605021] 2,500,822(+) CCAGG(C/T)GCTCT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv457n67 CNV gain 20364138
dgv4865n54 CNV gain 21841781
dgv4866n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
esv2675949 CNV deletion 23128226
esv2760067 CNV gain+loss 17122850
esv29545 CNV loss 19812545
esv3637633 CNV loss 21293372
nsv1052260 CNV gain 25217958
nsv571205 CNV gain 21841781
nsv571213 CNV loss 21841781
nsv827514 CNV loss 20364138
nsv827516 CNV gain 20364138
nsv833121 CNV loss 17160897
nsv833122 CNV loss 17160897
nsv952903 CNV deletion 24416366

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)
TBC1D24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D24

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

Disorders for TBC1D24 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 16
  • eiee16
myoclonic epilepsy, infantile, familial
  • myoclonic epilepsy, familial infantile
door syndrome
  • digitorenocerebral syndrome
deafness , autosomal recessive 86
  • autosomal recessive nonsyndromic deafness 86
deafness, autosomal dominant 65
  • autosomal dominant nonsyndromic deafness 65
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBC24_HUMAN
  • 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:
TBC1D24
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 64
  2. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. (PMID: 24729539) Azaiez H. … Smith R.J. (Hum. Mutat. 2014) 2 3 4 64
  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 64
  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 64
  5. The genetic basis of DOORS syndrome: an exome-sequencing study. (PMID: 24291220) Campeau P.M. … Sisodiya S.M. (Lancet Neurol 2014) 3 4 64

Products for TBC1D24 Gene

Sources for TBC1D24 Gene

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