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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
65
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the nervous system Likely pathogenic; Pathogenic rs760474458 RCV001814264
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy spectrum disorder Pathogenic rs2505527612 RCV003984984
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (59 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 86 Pathogenic; Likely pathogenic rs587777147, rs199700840, rs483352866, rs766769998, rs376712059, rs878853232, rs773916549, rs1567411469, rs1390045914 RCV000087077
RCV000087078
RCV000119776
RCV003987944
RCV000850506
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autosomal dominant epilepsy Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome CTD_human_DG 25401298
★☆☆☆☆
Found in Text Mining only
Adrenal hyperplasia Adrenal hyperplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating Hemiplegia BEFREE 28292732
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 28292732 Associate
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only
ANONYCHIA Anonychia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arhinencephaly Arrhinencephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Atypical Inclusion-Body Disease Inclusion-Body Disease CTD_human_DG 25401298
★☆☆☆☆
Found in Text Mining only
Auditory neuropathy spectrum disorder Auditory neuropathy BEFREE 24387994
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)