Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57465
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 24
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D24
Synonyms (NCBI Gene) Gene synonyms aliases
DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME, TLDC6
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613577 29203 ENSG00000162065
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal dominant nonsyndromic hearing loss 65, Autosomal recessive nonsyndromic hearing loss 86 rs1555501320, rs199700840, rs748302886, rs483352866, rs773916549, rs1567411469, rs398122967, rs587777147, rs878853232 N/A
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 16 rs398122941, rs397514713, rs397514714, rs748759187, rs398122965 N/A
DOORS Syndrome doors syndrome rs587777147, rs398122965, rs483352866, rs398122966, rs760474458, rs201257588, rs797044547, rs398122967, rs797044548, rs797044549, rs398122968, rs747538224 N/A
Myoclonic Epilepsy familial infantile myoclonic epilepsy rs748759187, rs267607103, rs267607104 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epilepsy Epilepsy, progressive myoclonic, 1B, Autosomal dominant epilepsy N/A N/A ClinVar
Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation focal epilepsy-intellectual disability-cerebro-cerebellar malformation N/A N/A GenCC
Malignant migrating partial seizures of infancy malignant migrating partial seizures of infancy N/A N/A GenCC
Parkinson disease Parkinsonian disorder N/A N/A ClinVar
Associations from Text Mining Disease 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