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

Gene ID: 57465, updated on 3-Apr-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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Location:
16p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2475127..2505730)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2497257..2531799)
105.20220307 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 familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up. Shao Q, et al. Epilepsy Res, 2022 May. PMID 35413638
  2. TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss. Oziębło D, et al. Sci Rep, 2021 May 13. PMID 33986365, Free PMC Article
  3. Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases. Zhang N, et al. Int J Dev Neurosci, 2021 Feb. PMID 33063868
  4. Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy. Uzunhan TA, et al. Clin Neurol Neurosurg, 2020 Sep. PMID 32663648
  5. TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes. Kim Nguyen NT, et al. Biochem Biophys Res Commun, 2020 Jul 12. PMID 32475639

See all (55) 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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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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, ENST00000567020.6
    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_2023_10

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
    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

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

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

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