Gene Gene information from NCBI Gene database.
Entrez ID 23158
Gene name TBC1 domain family member 9
Gene symbol TBC1D9
Synonyms (NCBI Gene)
GRAMD9MDR1
Chromosome 4
Chromosome location 4q31.21
miRNA miRNA information provided by mirtarbase database.
434
miRTarBase ID miRNA Experiments Reference
MIRT020468 hsa-miR-106b-5p Microarray 17242205
MIRT021451 hsa-miR-9-5p Microarray 17612493
MIRT021857 hsa-miR-132-3p Microarray 17612493
MIRT024035 hsa-miR-1-3p Microarray 18668037
MIRT024119 hsa-let-7g-5p qRT-PCR;Other 21618519
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618035 21710 ENSG00000109436
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZT07
Protein name TBC1 domain family member 9 (TBC1 domain family member 9A)
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 146 254 GRAM domain Domain
PF02893 GRAM 293 404 GRAM domain Domain
PF00566 RabGAP-TBC 518 722 Rab-GTPase-TBC domain Family
Sequence
MWVNPEEVLLANALWITERANPYFILQRRKGHAGDGGGGGGLAGLLVGTLDVVLDSSARV
APYRILYQTPDSLVYWTIACGGSRKEITEHWEWLEQNLLQTLSIFENENDITTFVRGKIQ
GIIAEYNKINDVKEDDDTEKFKEAIVKFHRLFGMPEEEKLVNYYSCSYWKGKVPRQGWMY
LSINHLCFYSFLMGREAKLVIRWVDITQLEKNATLLLPDVIKVSTRSSEHFFSVFLNINE
TFKLMEQLANIAMR
QLLDNEGFEQDRSLPKLKRKSPKKVSALKRDLDARAKSERYRALFR
LPKDEKLDGHTDCTLWTPFNKMHILGQMFVSTNYICFTSKEENLCSLIIPLREVTIVEKA
DSSSVLPSPLSISTRNRMTFLFANLKDRDFLVQRISDFLQQTTS
KIYSDKEFAGSYNSSD
DEVYSRPSSLVSSSPQRSTSSDADGERQFNLNGNSVPTATQTLMTMYRRRSPEEFNPKLA
KEFLKEQAWKIHFAEYGQGICMYRTEKTRELVLKGIPESMRGELWLLLSGAINEKATHPG
YYEDLVEKSMGKYNLATEEIERDLHRSLPEHPAFQNEMGIAALRRVLTAYAFRNPNIGYC
QAMNIVTSVLLLYAKEEEAFWLLVALCERMLPDYYNTRVVGALVDQGVFEELARDYVPQL
YDCMQDLGVISTISLSWFLTLFLSVMPFESAVVVVDCFFYEGIKVIFQLALAVLDANVDK
LL
NCKDDGEAMTVLGRYLDSVTNKDSTLPPIPHLHSLLSDDVEPYPEVDIFRLIRTSYEK
FGTIRADLIEQMRFKQRLKVIQTLEDTTKRNVVRTIVTETSFTIDELEELYALFKAEHLT
SCYWGGSSNALDRHDPSLPYLEQYRIDFEQFKGMFALLFPWACGTHSDVLASRLFQLLDE
NGDSLINFREFVSGLSAACHGDLTEKLKLLYKMHVLPEPSSDQDEPDSAFEATQYFFEDI
TPECTHVVGLDSRSKQGADDGFVTVSLKPDKGKRANSQENRNYLRLWTPENKSKSKNAKD
LPKLNQGQFIELCKTMYNMFSEDPNEQELYHATAAVTSLLLEIGEVGKLFVAQPAKEGGS
GGSGPSCHQGIPGVLFPKKGPGQPYVVESVEPLPASLAPDSEEHSLGGQMEDIKLEDSSP
RDNGACSSMLISDDDTKDDSSMSSYSVLSAGSHEEDKLHCEDIGEDTVLVRSGQGTAALP
RSTSLDRDWAITFEQFLASLLTEPALVKYFDKPVCMMARITSAKNIRMMGKPLTSASDYE
ISAMSG
Sequence length 1266
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Ascites Stimulate 29549251
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Associate 28332277
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 23819905, 33080569, 40644891
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 36164444
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome Associate 25646961
★☆☆☆☆
Found in Text Mining only
Sarcoma Associate 36232302
★☆☆☆☆
Found in Text Mining only
Sjogren's Syndrome Associate 35359935
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Associate 32591639
★☆☆☆☆
Found in Text Mining only