Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23102
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D2B
Synonyms (NCBI Gene) Gene synonyms aliases
NEDSGO
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDSGO
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.3-q25.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025936 hsa-miR-7-5p Microarray 19073608
MIRT030132 hsa-miR-26b-5p Microarray 19088304
MIRT042358 hsa-miR-484 CLASH 23622248
MIRT640494 hsa-miR-8485 HITS-CLIP 23824327
MIRT640493 hsa-miR-603 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:0005096 Function GTPase activator activity IBA 21873635
GO:0005515 Function Protein binding IPI 20562859, 22354992
GO:0005829 Component Cytosol IDA
GO:0006886 Process Intracellular protein transport IBA 21873635
GO:0090630 Process Activation of GTPase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619152 29183 ENSG00000167202
Protein
UniProt ID Q9UPU7
Protein name TBC1 domain family member 2B
Protein function GTPase-activating protein that plays a role in the early steps of endocytosis (PubMed:32623794).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 35 137 PH domain Domain
PF00566 RabGAP-TBC 665 876 Rab-GTPase-TBC domain Family
Sequence
MPGAGARAEEGGGGGEGAAQGAAAEPGAGPAREPARLCGYLQKLSGKGPLRGYRSRWFVF
DARRCYLYYFKSPQDALPLGHLDIADACFSYQGPDEAAEPGTEPPAHFQVHSAGAVTVLK
APNRQLMTYWLQELQQK
RWEYCNSLDMVKWDSRTSPTPGDFPKGLVARDNTDLIYPHPNA
SAEKARNVLAVETVPGELVGEQAANQPAPGHPNSINFYSLKQWGNELKNSMSSFRPGRGH
NDSRRTVFYTNEEWELLDPTPKDLEESIVQEEKKKLTPEGNKGVTGSGFPFDFGRNPYKG
KRPLKDIIGSYKNRHSSGDPSSEGTSGSGSVSIRKPASEMQLQVQSQQEELEQLKKDLSS
QKELVRLLQQTVRSSQYDKYFTSSRLCEGVPKDTLELLHQKDDQILGLTSQLERFSLEKE
SLQQEVRTLKSKVGELNEQLGMLMETIQAKDEVIIKLSEGEGNGPPPTVAPSSPSVVPVA
RDQLELDRLKDNLQGYKTQNKFLNKEILELSALRRNAERRERDLMAKYSSLEAKLCQIES
KYLILLQEMKTPVCSEDQGPTREVIAQLLEDALQVESQEQPEQAFVKPHLVSEYDIYGFR
TVPEDDEEEKLVAKVRALDLKTLYLTENQEVSTGVKWENYFASTVNREMMCSPELKNLIR
AGIPHEHRSKVWKWCVDRHTRKFKDNTEPGHFQTLLQKALEKQNPASKQIELDLLRTLPN
NKHYSCPTSEGIQKLRNVLLAFSWRNPDIGYCQGLNRLVAVALLYLEQEDAFWCLVTIVE
VFMPRDYYTKTLLGSQVDQRVFRDLMSEKLPRLHGHFEQYKVDYTLITFNWFLVVFVDSV
VSDILFKIWDSFLYEGPKVIFRFALALFKYKEEEIL
KLQDSMSIFKYLRYFTRTILDARK
LISISFGDLNPFPLRQIRNRRAYHLEKVRLELTELEAIREDFLRERDTSPDKGELVSDEE
EDT
Sequence length 963
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
21926974
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 29486777
Carcinoma Squamous Cell Associate 29486777
Cardiomyopathy Dilated Associate 38374468
Cherubism Associate 38374468
Cognition Disorders Associate 38374468
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 38374468
Developmental Disabilities Associate 38374468
Fibromatosis Gingival Hereditary Associate 39201553
Gingival Overgrowth Associate 38374468
Graves Ophthalmopathy Associate 37900130