Gene Gene information from NCBI Gene database.
Entrez ID 57465
Gene name TBC1 domain family member 24
Gene symbol TBC1D24
Synonyms (NCBI Gene)
DEE16DFNA65DFNB86DOORSEIEE16EIMEPRPDCFIMETLDC6
Chromosome 16
Chromosome location 16p13.3
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
SNPs SNP information provided by dbSNP.
72
SNP ID Visualize variation Clinical significance Consequence
rs61731477 C>G,T Likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs72768728 C>G Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs141399869 G>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant
rs188739853 G>A,C Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, synonymous variant
rs199700840 G>A,C Uncertain-significance, pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
613
miRTarBase ID miRNA Experiments Reference
MIRT636820 hsa-miR-508-5p HITS-CLIP 23824327
MIRT636819 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT636818 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT636817 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT636816 hsa-miR-6742-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 20727515
GO:0005737 Component Cytoplasm IDA 20727515
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613577 29203 ENSG00000162065
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULP9
Protein name TBC1 domain family member 24
Protein function May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). Involved in the regulat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 48 255 Rab-GTPase-TBC domain Family
PF07534 TLD 368 456 TLD Domain
PF07534 TLD 479 554 TLD Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in brain. {ECO:0000269|PubMed:20727515}.
Sequence
Sequence length 559
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TBC/RABGAPs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2465
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic; Pathogenic rs760474458 RCV001814264
Auditory neuropathy spectrum disorder Pathogenic rs2505527612 RCV003984984
Autosomal dominant nonsyndromic hearing loss 65 Likely pathogenic; Pathogenic rs755370981, rs770363653, rs2141872119, rs2141872348, rs2141877166, rs483352866, rs746057710, rs2141872114, rs2141870681, rs1205407936, rs766769998, rs2141873582, rs2141872499, rs2065755770, rs1183009408
View all (46 more)
RCV003770828
RCV001377313
RCV001384532
RCV001384860
RCV001880605
RCV000144534
RCV001903327
RCV002002392
RCV001870872
RCV002035433
RCV001951260
RCV002045655
RCV001959014
RCV001890156
RCV001969475
RCV001851500
RCV002041046
RCV001850282
RCV003070095
RCV003073373
RCV002730425
RCV002716714
RCV000558935
RCV001217724
RCV001041353
RCV000469036
RCV002890177
RCV003016796
RCV003051981
RCV003027922
RCV003778229
RCV003783503
RCV003807939
RCV003799349
RCV003800276
RCV003807020
RCV003809172
RCV003807541
RCV000697787
RCV001049900
RCV001865442
RCV002526609
RCV000800580
RCV000578091
RCV000651568
RCV001857175
RCV000533814
RCV001388446
RCV000651566
RCV000690143
RCV000714696
RCV001862149
RCV002533848
RCV000823886
RCV000814737
RCV001219030
RCV003764724
RCV001062408
RCV001047523
RCV001057682
RCV001233778
RCV000651571
RCV001854346
RCV000470479
Autosomal recessive nonsyndromic hearing loss 86 Pathogenic; Likely pathogenic rs587777147, rs199700840, rs483352866, rs766769998, rs376712059, rs878853232, rs773916549, rs1567411469, rs1390045914 RCV000087077
RCV000087078
RCV000119776
RCV003987944
RCV000850506
RCV000225038
RCV004594074
RCV000714695
RCV001254817
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs863223337, rs863224931 -
Autosomal dominant epilepsy Conflicting classifications of pathogenicity rs1057519630 RCV000417203
Dysarthria Conflicting classifications of pathogenicity rs761934676 RCV001270076
Epilepsy, progressive myoclonic, 1B Conflicting classifications of pathogenicity rs765965968 RCV000192071
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 31112829
Alternating hemiplegia of childhood Associate 28292732
Brain Diseases Associate 24387994, 28292732, 29484035
Cerebral Palsy Associate 29484035
Chromosome Deletion Inhibit 30245510
Chronic Kidney Disease Mineral and Bone Disorder Associate 24729539, 30245510, 32873933
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 24729539, 30245510
Deafness Associate 24387994, 30139988, 30245510, 32873933, 33095980
Death Associate 24387994
Developmental Disabilities Associate 30245510