Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55296
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D19
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p15.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT665945 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT665944 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT665943 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT665942 hsa-miR-940 HITS-CLIP 23313552
MIRT665941 hsa-miR-3929 HITS-CLIP 23313552
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 22354992, 25416956, 32296183
GO:1902017 Process Regulation of cilium assembly IMP 17646400
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8N5T2
Protein name TBC1 domain family member 19
Protein function May act as a GTPase-activating protein for Rab family protein(s).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 362 493 Rab-GTPase-TBC domain Family
Sequence
MLQEESDLSLIIAQIVQKLKGSNLYSQLERQAWASLQRPEIKLESLKEDIKEFFKISGWE
KKLQNAVYSELSVFPLPSHPAAPPEHLKEPLVYMRKAQGSWEKRILKSLNSMCTELSIPL
ARKRPVGEQKELLNKWNEMGTDEPDLSLFRPVYAPKDFLEVLINLRNPNYENGDSLSFRT
HLGLIQVPLKVKDIPELKECFVELGLNIGQLGIDDSTQVPPELFENEHVRIGQKVLAEQD
SAAAQQYIRQGSPTALRAELWALILNISSQPEDVLYYEQLKTNVIQHDLLVDSLIYKDVK
LTASNDDYYFVFEDYLYQVLLCFSRDTSVLSHFAFNSASPPKSYIRGKLGLEEYAVFYPP
NGVIPFHGFSMYVAPLCFLYHEPSKLYQIFREMYVRFFFRLHSISSHPSGIVSLCLLFET
LLQTYLPQLFYHLREIGAQPLRISFKWMVRAFSGYLATDQLLLLWDRILGYNSLEILAVL
AAAVFAFRAVNLM
EVTSLAAAEAVLADLSTLKVMPLLQIFLFATVT
Sequence length 526
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Heart Failure Heart failure N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12), Hypertension N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS