Gene Gene information from NCBI Gene database.
Entrez ID 54662
Gene name TBC1 domain family member 13
Gene symbol TBC1D13
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9q34.11
miRNA miRNA information provided by mirtarbase database.
1119
miRTarBase ID miRNA Experiments Reference
MIRT030261 hsa-miR-26b-5p Sequencing 20371350
MIRT031223 hsa-miR-19b-3p Sequencing 20371350
MIRT032452 hsa-let-7b-5p Proteomics 18668040
MIRT722219 hsa-miR-6165 HITS-CLIP 19536157
MIRT722217 hsa-miR-125a-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616218 25571 ENSG00000107021
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVG8
Protein name TBC1 domain family member 13
Protein function Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 153 367 Rab-GTPase-TBC domain Family
Sequence
MSSLHKSRIADFQDVLKEPSIALEKLRELSFSGIPCEGGLRCLCWKILLNYLPLERASWT
SILAKQRELYAQFLREMIIQPGIAKANMGVSREDVTFEDHPLNPNPDSRWNTYFKDNEVL
LQIDKDVRRLCPDISFFQRATDYPCLLILDPQNEFETLRKRVEQTTLKSQTVARNRSGVT
NMSSPHKNSVPSSLNEYEVLPNGCEAHWEVVERILFIYAKLNPGIAYVQGMNEIVGPLYY
TFATDPNSEWKEHAEADTFFCFTNLMAEIRDNFIKSLDDSQCGITYKMEKVYSTLKDKDV
ELYLKLQEQNIKPQFFAFRWLTLLLSQEFLLPDVIRIWDSLFADDNRFDFLLLVCCAMLM
LIREQLL
EGDFTVNMRLLQDYPITDVCQILQKAKELQDSK
Sequence length 400
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.).
4
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations