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    TBC1D24 TBC1 domain family member 24 [ Homo sapiens (human) ]

    Gene ID: 57465, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TBC1D24provided by HGNC
    Official Full Name
    TBC1 domain family member 24provided by HGNC
    Primary source
    HGNC:HGNC:29203
    See related
    Ensembl:ENSG00000162065 MIM:613577; AllianceGenome:HGNC:29203
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EIM; FIME; DEE16; DOORS; TLDC6; DFNA65; DFNB86; EIEE16; EPRPDC
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 4.4), kidney (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D24 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2475127..2505730)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2497257..2531799)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2525128..2555731)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene tubulin epsilon and delta complex 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7047 Neighboring gene TEDC2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2518620-2519163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7055 Neighboring gene netrin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2532873-2533374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2533375-2533874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2546817-2547422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2550095-2550912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557190-2557690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557691-2558191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2561075-2561678 Neighboring gene Sharpr-MPRA regulatory region 4251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7057 Neighboring gene ATPase H+ transporting V0 subunit c Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7059 Neighboring gene amidohydrolase domain containing 2 Neighboring gene cementum protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TBC1D24-Related Disorders. Adam MP, et al. , 1993. PMID 25719194
    2. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Mucha BE, et al. Genet Med, 2019 May. PMID 30245510
    3. [Clinical phenotypes of TBC1D24 gene related epilepsy]. Zhang J, et al. Zhonghua Er Ke Za Zhi, 2018 Sep 2. PMID 30180405
    4. TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration. Yoon J, et al. Nat Commun, 2018 Aug 28. PMID 30154457, Free PMC Article
    5. Downregulation of TBC1 Domain Family Member 24 (BC1D24) Inhibits Breast Carcinoma Growth via IGF1R/PI3K/AKT Pathway. Qu X, et al. Med Sci Monit, 2018 Jun 12. PMID 29893377, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
      Title: Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
    2. TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.
      Title: TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.
    3. Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.
      Title: Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.
    4. TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
      Title: TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
    5. Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
      Title: Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
    6. Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.
      Title: Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.
    7. TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.
      Title: TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.
    8. TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
      Title: TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
    9. In a Drosophila model neuronally expressing human TBC1D24, the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, but TBC1D24R360H is benign. The phenotypes of the TBC1D24G501R mutation are consistent with oxidative stress sensitivity, rescued by antioxidants. TLDc domain mutations of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia.
      Title: TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
    10. Multifocal myoclonus, epilepsia partialis continua (EPC), and fever-induced seizures were the most prominent features of epilepsy patients with TBC1D24 mutations. The best therapeutic strategy to terminate EPC might be using chloral hydrate to induce sleep and control the infection and temperature. Hearing loss and abnormal brain MRIs might exacerbate the condition during follow-up.
      Title: Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant nonsyndromic hearing loss 65
    MedGen: C3892048 OMIM: 616044 GeneReviews: TBC1D24-Related Disorders
    		not available
    Autosomal recessive nonsyndromic hearing loss 86
    MedGen: C2829265 OMIM: 614617 GeneReviews: TBC1D24-Related Disorders
    		not available
    Developmental and epileptic encephalopathy, 16
    MedGen: C3809173 OMIM: 615338 GeneReviews: TBC1D24-Related Disorders
    		not available
    DOORS syndrome
    MedGen: C0795934 OMIM: 220500 GeneReviews: TBC1D24-Related Disorders
    		not available
    Familial infantile myoclonic epilepsy
    MedGen: C0917800 OMIM: 605021 GeneReviews: TBC1D24-Related Disorders
    		not available
    Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
    MedGen: C1842531 OMIM: 608105 GeneReviews: TBC1D24-Related Disorders
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1171, MGC102885

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of peptidyl-cysteine S-nitrosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in terminal bouton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 24
    Names
    Infantile myoclonic epilepsy
    TBC/LysM-associated domain containing 6
    deafness, autosomal dominant 65
    skywalker homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028170.1 RefSeqGene

      Range
      4982..35585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199107.2 → NP_001186036.1  TBC1 domain family member 24 isoform 1

      See identical proteins and their annotated locations for NP_001186036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB032997, AC093525, AC106820, BC112389
      Consensus CDS
      CCDS55980.1
      UniProtKB/Swiss-Prot
      A0JNW3, B9A6M6, Q2KJ08, Q9ULP9
      UniProtKB/TrEMBL
      A0A2R8Y518
      Related
      ENSP00000494678.1, ENST00000646147.1
      Conserved Domains (2) summary
      smart00584
      Location:342 → 554
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_020705.3 → NP_065756.1  TBC1 domain family member 24 isoform 2

      See identical proteins and their annotated locations for NP_065756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC093525, AC106820, BC112389
      Consensus CDS
      CCDS42107.1
      UniProtKB/TrEMBL
      A0A2R8Y518
      Related
      ENSP00000454408.1, ENST00000567020.7
      Conserved Domains (2) summary
      smart00584
      Location:336 → 548
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2475127..2505730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023493.2 → XP_016878982.1  TBC1 domain family member 24 isoform X1

      UniProtKB/Swiss-Prot
      A0JNW3, B9A6M6, Q2KJ08, Q9ULP9
      UniProtKB/TrEMBL
      A0A2R8Y518
      Conserved Domains (2) summary
      smart00584
      Location:342 → 554
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. XM_017023495.2 → XP_016878984.1  TBC1 domain family member 24 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y518
      Related
      ENSP00000455005.2, ENST00000569874.2
      Conserved Domains (2) summary
      smart00584
      Location:336 → 548
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. XM_047434388.1 → XP_047290344.1  TBC1 domain family member 24 isoform X1

      UniProtKB/Swiss-Prot
      A0JNW3, B9A6M6, Q2KJ08, Q9ULP9
      UniProtKB/TrEMBL
      A0A2R8Y518
      Related
      ENSP00000457896.2, ENST00000562105.2

    4. XM_017023494.2 → XP_016878983.1  TBC1 domain family member 24 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y518
      Related
      ENSP00000494145.1, ENST00000643767.1
      Conserved Domains (2) summary
      smart00584
      Location:336 → 548
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2497257..2531799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313528.1 → XP_054169503.1  TBC1 domain family member 24 isoform X1

      UniProtKB/Swiss-Prot
      A0JNW3, B9A6M6, Q2KJ08, Q9ULP9
      UniProtKB/TrEMBL
      A0A2R8Y518

    2. XM_054313529.1 → XP_054169504.1  TBC1 domain family member 24 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y518

    RNA

    1. XR_008484710.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULP9.2 GenPept UniProtKB/Swiss-Prot:Q9ULP9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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