Gene Gene information from NCBI Gene database.
Entrez ID 128637
Gene name TBC1 domain family member 20
Gene symbol TBC1D20
Synonyms (NCBI Gene)
C20orf140WARBM4
Chromosome 20
Chromosome location 20p13
Summary This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replica
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs141648576 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, synonymous variant
rs587777157 G>A Pathogenic Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs587777158 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs587777159 GT>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs587777160 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
981
miRTarBase ID miRNA Experiments Reference
MIRT028089 hsa-miR-93-5p Sequencing 20371350
MIRT052174 hsa-let-7b-5p CLASH 23622248
MIRT038344 hsa-miR-296-3p CLASH 23622248
MIRT038344 hsa-miR-296-3p CLASH 23622248
MIRT726367 hsa-miR-15a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 17684057
GO:0001675 Process Acrosome assembly IEA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 17684057, 26063829
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611663 16133 ENSG00000125875
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BZ9
Protein name TBC1 domain family member 20
Protein function GTPase-activating protein (GAP) specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude (PubMed:23236136). Also shows GAP activity for RAB18 GTPase (Pub
PDB 4HL4 , 4HLQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 63 266 Rab-GTPase-TBC domain Family
Sequence
MALRSAQGDGPTSGHWDGGAEKADFNAKRKKKVAEIHQALNSDPTDVAALRRMAISEGGL
LTDEIRRKVWPKLLNVNANDPPPISGKNLRQMSKDYQQVLLDVRRSLRRFPPGMPEEQRE
GLQEELIDIILLILERNPQLHYYQGYHDIVVTFLLVVGERLATSLVEKLSTHHLRDFMDP
TMDNTKHILNYLMPIIDQVNPELHDFMQSAEVGTIFALSWLITWFGHVLSDFRHVVRLYD
FFLACHPLMPIYFAAVIVLYREQEVL
DCDCDMASVHHLLSQIPQDLPYETLISRAGDLFV
QFPPSELAREAAAQQQAERTAASTFKDFELASAQQRPDMVLRQRFRGLLRPEDRTKDVLT
KPRTNRFVKLAVMGLTVALGAAALAVVKSALEWAPKFQLQLFP
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
TBC/RABGAPs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
Warburg micro syndrome 4 Pathogenic rs587777157, rs587777158, rs587777159, rs587777160 RCV000087138
RCV000087139
RCV000087140
RCV000087141
★★★★☆
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
APERT SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES PREDOMINANTLY AFFECTING FACIAL APPEARANCE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRYPTOPHTHALMOS SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYCLOCEPHALY 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
Ataxia Ataxia Pubtator 34130600 Associate
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 34130600 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 24239381, 25476608
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Central visual impairment Central Visual Impairment HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral cortical atrophy Cerebral cortical atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Coloboma of the Retina Retinal coloboma HPO_DG
★☆☆☆☆
Found in Text Mining only