Gene Gene information from NCBI Gene database.
Entrez ID 23102
Gene name TBC1 domain family member 2B
Gene symbol TBC1D2B
Synonyms (NCBI Gene)
NEDSGO
Chromosome 15
Chromosome location 15q24.3-q25.1
miRNA miRNA information provided by mirtarbase database.
409
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 20562859, 22354992
GO:0005737 Component Cytoplasm IBA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619152 29183 ENSG00000167202
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with seizures and gingival overgrowth Pathogenic; Likely pathogenic rs2141643269, rs2141805160, rs773764751, rs2141771878, rs2141643586, rs2141805189, rs1428780420 RCV001420999
RCV001421000
RCV001421001
RCV001421002
RCV001421003
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TBC1D2B-related disorder Likely pathogenic rs149524007, rs1215179726, rs1470259761 RCV003391548
RCV003967368
RCV003976869
★★★★☆
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
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 29486777 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 38374468 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 38374468 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 38374468 Associate
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Graves ophthalmopathy Pubtator 37900130 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 31719531
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASDB_DG 21926974
★☆☆☆☆
Found in Text Mining only
Seizures Seizures Pubtator 38374468 Associate
★☆☆☆☆
Found in Text Mining only
Small Cell Lung Carcinoma Small cell lung carcinoma Pubtator 29486777 Associate
★☆☆☆☆
Found in Text Mining only