Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9779
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D5
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019683 hsa-miR-375 Microarray 20215506
MIRT484645 hsa-miR-361-3p HITS-CLIP 19536157
MIRT484641 hsa-miR-3679-3p HITS-CLIP 19536157
MIRT484640 hsa-miR-4446-5p HITS-CLIP 19536157
MIRT484647 hsa-miR-6779-3p 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:0002092 Process Positive regulation of receptor internalization IMP 22354992
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 16713569, 20923837, 22354992, 24603492, 27385586, 31515488, 32296183, 32814053
GO:0005776 Component Autophagosome IDA 22354992
GO:0005794 Component Golgi apparatus IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615740 19166 ENSG00000131374
Protein
UniProt ID Q92609
Protein name TBC1 domain family member 5
Protein function May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its ca
PDB 5GTU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 84 381 Rab-GTPase-TBC domain Family
Sequence
MYHSLSETRHPLQPEEQEVGIDPLSSYSNKSGGDSNKNGRRTSSTLDSEGTFNSYRKEWE
ELFVNNNYLATIRQKGINGQLRSSRFRSICWKLFLCVLPQDKSQWISRIEELRAWYSNIK
EIHITNPRKVVGQQDLMINNPLSQDEGSLWNKFFQDKELRSMIEQDVKRTFPEMQFFQQE
NVRKILTDVLFCYARENEQLLYKQGMHELLAPIVFVLHCDHQAFLHASESAQPSEEMKTV
LNPEYLEHDAYAVFSQLMETAEPWFSTFEHDGQKGKETLMTPIPFARPQDLGPTIAIVTK
VNQIQDHLLKKHDIELYMHLNRLEIAPQIYGLRWVRLLFGREFPLQDLLVVWDALFADGL
SLGLVDYIFVAMLLYIRDALI
SSNYQTCLGLLMHYPFIGDVHSLILKALFLRDPKRNPRP
VTYQFHPNLDYYKARGADLMNKSRTNAKGAPLNINKVSNSLINFGRKLISPAMAPGSAGG
PVPGGNSSSSSSVVIPTRTSAEAPSHHLQQQQQQQRLMKSESMPVQLNKGLSSKNISSSP
SVESLPGGREFTGSPPSSATKKDSFFSNISRSRSHSKTMGRKESEEELEAQISFLQGQLN
DLDAMCKYCAKVMDTHLVNIQDVILQENLEKEDQILVSLAGLKQIKDILKGSLRFNQSQL
EAEENEQITIADNHYCSSGQGQGRGQGQSVQMSGAIKQASSETPGCTDRGNSDDFILISK
DDDGSSARGSFSGQAQPLRTLRSTSGKSQAPVCSPLVFSDPLMGPASASSSNPSSSPDDD
SSKDSGFTIVSPLDI
Sequence length 795
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Parkinson disease Parkinson Disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
28892059
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
30285260, 28991256, 29483656, 25056061, 26198764, 31268507
Unknown
Disease term Disease name Evidence References Source
Parkinson Disease Parkinson Disease GWAS
Lung adenocarcinoma Lung adenocarcinoma Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors GWAS, CBGDA
Diabetes Diabetes GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA