Gene Gene information from NCBI Gene database.
Entrez ID 23061
Gene name TBC1 domain family member 9B
Gene symbol TBC1D9B
Synonyms (NCBI Gene)
GRAMD9B
Chromosome 5
Chromosome location 5q35.3
miRNA miRNA information provided by mirtarbase database.
177
miRTarBase ID miRNA Experiments Reference
MIRT032112 hsa-let-7d-5p Sequencing 20371350
MIRT049656 hsa-miR-92a-3p CLASH 23622248
MIRT049656 hsa-miR-92a-3p CLASH 23622248
MIRT044119 hsa-miR-30e-3p CLASH 23622248
MIRT042393 hsa-miR-191-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003008 Process System process IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 22354992, 25416956
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618039 29097 ENSG00000197226
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q66K14
Protein name TBC1 domain family member 9B
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 142 250 GRAM domain Domain
PF02893 GRAM 288 398 GRAM domain Domain
PF00566 RabGAP-TBC 511 715 Rab-GTPase-TBC domain Family
Sequence
MWLSPEEVLVANALWVTERANPFFVLQRRRGHGRGGGLTGLLVGTLDVVLDSSARVAPYR
ILHQTQDSQVYWTVACGSSRKEITKHWEWLENNLLQTLSIFDSEEDITTFVKGKIHGIIA
EENKNLQPQGDEDPGKFKEAELKMRKQFGMPEGEKLVNYYSCSYWKGRVPRQGWLYLTVN
HLCFYSFLLGKEVSLVVQWVDITRLEKNATLLFPESIRVDTRDQELFFSMFLNIGETFKL
MEQLANLAMR
QLLDSEGFLEDKALPRPIRPHRNISALKRDLDARAKNECYRATFRLPRDE
RLDGHTSCTLWTPFNKLHIPGQMFISNNYICFASKEEDACHLIIPLREVTIVEKADSSSV
LPSPLSISTKSKMTFLFANLKDRDFLVQRISDFLQKTP
SKQPGSIGSRKASVVDPSTESS
PAPQEGSEQPASPASPLSSRQSFCAQEAPTASQGLLKLFQKNSPMEDLGAKGAKEKMKEE
SWHIHFFEYGRGVCMYRTAKTRALVLKGIPESLRGELWLLFSGAWNEMVTHPGYYAELVE
KSTGKYSLATEEIERDLHRSMPEHPAFQNELGIAALRRVLTAYAFRNPTIGYCQAMNIVT
SVLLLYGSEEEAFWLLVALCERMLPDYYNTRVVGALVDQGIFEELTRDFLPQLSEKMQDL
GVISSISLSWFLTLFLSVMPFESAVVIVDCFFYEGIKVILQVALAVLDANMEQLL
GCSDE
GEAMTMLGRYLDNVVNKQSVSPPIPHLRALLSSSDDPPAEVDIFELLKVSYEKFSSLRAE
DIEQMRFKQRLKVIQSLEDTAKRSVVRAIPVDIGFSIEELEDLYMVFKAKHLASQYWGCS
RTMAGRRDPSLPYLEQYRIDASQFRELFASLTPWACGSHTPLLAGRMFRLLDENKDSLIN
FKEFVTGMSGMYHGDLTEKLKVLYKLHLPPALSPEEAESALEAAHYFTEDSSSEASPLAS
DLDLFLPWEAQEALPQEEQEGSGSEERGEEKGTSSPDYRHYLRMWAKEKEAQKETIKDLP
KMNQEQFIELCKTLYNMFSEDPMEQDLYHAIATVASLLLRIGEVGKKFSARTGRKPRDCA
TEEDEPPAPELHQDAARELQPPAAGDPQAKAGGDTHLGKAPQESQVVVEGGSGEGQGSPS
QLLSDDETKDDMSMSSYSVVSTGSLQCEDLADDTVLVGGEACSPTARIGGTVDTDWCISF
EQILASILTESVLVNFFEKRVDIGLKIKDQKKVERQFSTASDHEQPGVSG
Sequence length 1250
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs145113784 RCV005927417
Adrenocortical carcinoma, hereditary Benign rs145113784 RCV005927420
Colon adenocarcinoma Benign rs145113784 RCV005927416
Familial cancer of breast Benign rs145113784 RCV005927415
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Moyamoya Disease Associate 40722175