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| # | Reference Title | Reference Citation |
| 1. | TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. | Azaiez H, etal., Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. |
| 2. | Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. | Bakhchane A, etal., PLoS One. 2015 Sep 15;10(9):e0138072. doi: 10.1371/journal.pone.0138072. eCollection 2015. |
| 3. | A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. | Corbett MA, etal., Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. |
| 4. | TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. | Falace A, etal., Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2337-42. doi: 10.1073/pnas.1316294111. Epub 2014 Jan 27. |
| 5. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 6. | Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. | Milh M, etal., Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12. |
| 7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 8. | Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. | Poulat AL, etal., Epilepsy Res. 2015 Mar;111:72-7. doi: 10.1016/j.eplepsyres.2015.01.008. Epub 2015 Jan 25. |
| 9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 11. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| Tbc1d24 (Rattus norvegicus - Norway rat) |
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| TBC1D24 (Homo sapiens - human) |
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| Tbc1d24 (Mus musculus - house mouse) |
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| Tbc1d24 (Chinchilla lanigera - long-tailed chinchilla) |
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| TBC1D24 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| TBC1D24 (Canis lupus familiaris - dog) |
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| Tbc1d24 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| TBC1D24 (Sus scrofa - pig) |
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| TBC1D24 (Chlorocebus sabaeus - green monkey) |
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| Tbc1d24 (Heterocephalus glaber - naked mole-rat) |
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| Tbc1d24 (Rattus rattus - black rat) |
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.
Variants in Tbc1d24
150 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 163 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 142 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001105769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006245926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039085349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039085350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005489713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010055133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010055134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010055136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010055137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010055138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_357445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC098526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000081995 ⟹ ENSRNOP00000071746 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000084066 ⟹ ENSRNOP00000073359 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001105769 ⟹ NP_001099239 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039085349 ⟹ XP_038941277 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039085350 ⟹ XP_038941278 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XR_005489713 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XR_010055133 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010055134 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010055136 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010055137 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010055138 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_357445 | ||||||||||||||||||||
| Type: | NON-CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_001099239 | (Get FASTA) | NCBI Sequence Viewer |
| XP_038941277 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038941278 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDM03813 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000071746 | ||
| ENSRNOP00000071746.1 | |||
| ENSRNOP00000073359 | |||
| ENSRNOP00000073359.1 |
| RefSeq Acc Id: | NP_001099239 ⟸ NM_001105769 |
| - UniProtKB: | D4A3Z3 (UniProtKB/TrEMBL), A6HCQ8 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000071746 ⟸ ENSRNOT00000081995 |
| Ensembl Acc Id: | ENSRNOP00000073359 ⟸ ENSRNOT00000084066 |
| RefSeq Acc Id: | XP_038941278 ⟸ XM_039085350 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | D4A3Z3 (UniProtKB/TrEMBL), A6HCQ8 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038941277 ⟸ XM_039085349 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0G2K5B0 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A0G2K5B0-F1-model_v2 | AlphaFold | A0A0G2K5B0 | 1-562 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1306143 | AgrOrtholog |
| BioCyc Gene | G2FUF-25872 | BioCyc |
| Ensembl Genes | ENSRNOG00000052204 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000081995 | ENTREZGENE |
| ENSRNOT00000081995.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000084066 | ENTREZGENE | |
| ENSRNOT00000084066.3 | UniProtKB/TrEMBL | |
| Gene3D-CATH | Ypt/Rab-GAP domain of gyp1p, domain 3 | UniProtKB/TrEMBL |
| InterPro | Rab-GTPase_TBC_sf | UniProtKB/TrEMBL |
| RabGAP_TBC | UniProtKB/TrEMBL | |
| TLDc | UniProtKB/TrEMBL | |
| KEGG Report | rno:287110 | UniProtKB/TrEMBL |
| NCBI Gene | 287110 | ENTREZGENE |
| PANTHER | GTPASE-ACTIVATING PROTEIN SKYWALKER | UniProtKB/TrEMBL |
| NUCLEOLAR PROTEIN 7/ESTROGEN RECEPTOR COACTIVATOR-RELATED | UniProtKB/TrEMBL | |
| Pfam | TBC | UniProtKB/TrEMBL |
| TLD | UniProtKB/TrEMBL | |
| PhenoGen | Tbc1d24 | PhenoGen |
| PROSITE | TLDC | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000052204 | RatGTEx |
| SMART | TBC | UniProtKB/TrEMBL |
| TLDc | UniProtKB/TrEMBL | |
| Superfamily-SCOP | RabGAP_TBC | UniProtKB/TrEMBL |
| UniProt | A0A0G2K5B0 | ENTREZGENE, UniProtKB/TrEMBL |
| A6HCQ8 | ENTREZGENE, UniProtKB/TrEMBL | |
| D4A3Z3 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-03-07 | Tbc1d24 | TBC1 domain family, member 24 | RGD1306143_predicted | similar to CG9339-PA (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-01-20 | RGD1306143_predicted | similar to CG9339-PA (predicted) | LOC287110_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
| 2005-01-12 | LOC287110_predicted | similar to CG9339-PA (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |