Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11138
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D8
Synonyms (NCBI Gene) Gene synonyms aliases
AD3, GRAMD8, HBLP1, TBC1D8A, VRP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AD3
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019002 hsa-miR-335-5p Microarray 18185580
MIRT553755 hsa-miR-92b-3p PAR-CLIP 21572407
MIRT553754 hsa-miR-92a-3p PAR-CLIP 21572407
MIRT553753 hsa-miR-367-3p PAR-CLIP 21572407
MIRT553752 hsa-miR-363-3p PAR-CLIP 21572407
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 IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0006886 Process Intracellular protein transport IBA 21873635
GO:0008015 Process Blood circulation TAS 10373574
GO:0008284 Process Positive regulation of cell population proliferation TAS 10373574
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 O95759
Protein name TBC1 domain family member 8 (AD 3) (Vascular Rab-GAP/TBC-containing protein)
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
PF02893 GRAM 145 252 GRAM domain Domain
PF02893 GRAM 285 396 GRAM domain Domain
PF00566 RabGAP-TBC 508 712 Rab-GTPase-TBC domain Family
Sequence
MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGRLVGALDAVLDSNARVA
PFRILLQVPGSQVYSPIACGATLEEINQHWDWLEQNLLHTLSVFDNKDDIASFVKGKVKA
LIAEETSSRLAEQEEEPEKFREALVKFEARFNFPEAEKLVTYYSCCCWKGRVPRQGWLYL
SINHLCFYSFFLGKELKLVVPWVDIQKLERTSNVFLTDTIRITTQNKERDFSMFLNLDEV
FKVMEQLADVTL
RRLLDNEVFDLDPDLQEPSQITKRDLEARAQNEFFRAFFRLPRKEKLH
AVVDCSLWTPFSRCHTTGRMFASDSYICFASREDGCCKIILPLREVVSIEKMEDTSLLPH
PIIVSIRSKVAFQFIELRDRDSLVEALLARLKQVHA
NHPVHYDTSADDDMASLVFHSTSM
CSDHRFGDLEMMSSQNSEESEKEKSPLMHPDALVTAFQQSGSQSPDSRMSREQIKISLWN
DHFVEYGRTVCMFRTEKIRKLVAMGIPESLRGRLWLLFSDAVTDLASHPGYYGNLVEESL
GKCCLVTEEIERDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVL
LLYTKEEEAFWLLVAVCERMLPDYFNHRVIGAQVDQSVFEELIKGHLPELAEHMNDLSAL
ASVSLSWFLTLFLSIMPLESAVNVVDCFFYDGIKAIFQLGLAVLEANAEDLC
SSKDDGQA
LMILSRFLDHIKNEDSPGPPVGSHHAFFSDDQEPYPVTDISDLIRDSYEKFGDQSVEQIE
HLRYKHRIRVLQGHEDTTKQNVLRVVIPEVSILPEDLEELYDLFKREHMMSCYWEQPRPM
ASRHDPSRPYAEQYRIDARQFAHLFQLVSPWTCGAHTEILAERTFRLLDDNMDQLIEFKA
FVSCLDIMYNGEMNEKIKLLYRLHIPPALTENDRDSQSPLRNPLLSTSRPLVFGKPNGDA
VDYQKQLKQMIKDLAKEKDKTEKELPKMSQREFIQFCKTLYSMFHEDPEENDLYQAIATV
TTLLLQIGEVGQRGSSSGSCSQECGEELRASAPSPEDSVFADTGKTPQDSQAFPEAAERD
WTVSLEHILASLLTEQSLVNFFEKPLDMKSKLENAKINQYNLKTFEMSHQSQSELKLSNL
Sequence length 1140
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 20548944
Unknown
Disease term Disease name Evidence References Source
Progressive Supranuclear Palsy Progressive Supranuclear Palsy GWAS
Rheumatoid arthritis Rheumatoid arthritis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 35918393
Colorectal Neoplasms Stimulate 35918393
Deafness Associate 35248088
Hearing Loss Associate 35248088
Hypoxia Associate 35918393
Keratoconjunctivitis Associate 15722597
Osteoporosis Associate 28369098
Pancreatic Neoplasms Associate 21347333
Prostatic Neoplasms Associate 29318656
Supranuclear Palsy Progressive Associate 33635380