TBC1D2B

Protein identityUniProt · HPA

UniProt accession

Q9UPU7

Gene

TBC1D2B

Ensembl

ENSG00000167202

Chromosome

15

Canonical length

963 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Cytosol

OverviewNCBI Gene

Predicted to enable GTPase activator activity. Involved in endocytosis. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

963 residues, UniProt reviewed canonical sequence.

>Q9UPU7|TBC1D2B
     1  MPGAGARAEE GGGGGEGAAQ GAAAEPGAGP AREPARLCGY LQKLSGKGPL RGYRSRWFVF
    61  DARRCYLYYF KSPQDALPLG HLDIADACFS YQGPDEAAEP GTEPPAHFQV HSAGAVTVLK
   121  APNRQLMTYW LQELQQKRWE YCNSLDMVKW DSRTSPTPGD FPKGLVARDN TDLIYPHPNA
   181  SAEKARNVLA VETVPGELVG EQAANQPAPG HPNSINFYSL KQWGNELKNS MSSFRPGRGH
   241  NDSRRTVFYT NEEWELLDPT PKDLEESIVQ EEKKKLTPEG NKGVTGSGFP FDFGRNPYKG
   301  KRPLKDIIGS YKNRHSSGDP SSEGTSGSGS VSIRKPASEM QLQVQSQQEE LEQLKKDLSS
   361  QKELVRLLQQ TVRSSQYDKY FTSSRLCEGV PKDTLELLHQ KDDQILGLTS QLERFSLEKE
   421  SLQQEVRTLK SKVGELNEQL GMLMETIQAK DEVIIKLSEG EGNGPPPTVA PSSPSVVPVA
   481  RDQLELDRLK DNLQGYKTQN KFLNKEILEL SALRRNAERR ERDLMAKYSS LEAKLCQIES
   541  KYLILLQEMK TPVCSEDQGP TREVIAQLLE DALQVESQEQ PEQAFVKPHL VSEYDIYGFR
   601  TVPEDDEEEK LVAKVRALDL KTLYLTENQE VSTGVKWENY FASTVNREMM CSPELKNLIR
   661  AGIPHEHRSK VWKWCVDRHT RKFKDNTEPG HFQTLLQKAL EKQNPASKQI ELDLLRTLPN
   721  NKHYSCPTSE GIQKLRNVLL AFSWRNPDIG YCQGLNRLVA VALLYLEQED AFWCLVTIVE
   781  VFMPRDYYTK TLLGSQVDQR VFRDLMSEKL PRLHGHFEQY KVDYTLITFN WFLVVFVDSV
   841  VSDILFKIWD SFLYEGPKVI FRFALALFKY KEEEILKLQD SMSIFKYLRY FTRTILDARK
   901  LISISFGDLN PFPLRQIRNR RAYHLEKVRL ELTELEAIRE DFLRERDTSP DKGELVSDEE
   961  EDT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBC1D2B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

37 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBC1D2B.

Disease | AllUniProt

Conditions TBC1D2B is implicated in, by any mechanism.

• Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) MIM:619323

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 207 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with seizures and gingival overgrowth
• TBC1D2B-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0

gnomAD missense Z

1.82

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endocytosis

Molecular functions

• GTPase activator activity

Cellular components

• cytoplasm
• cytosol
• early endosome
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Rab-GAP-TBC domain
• Pleckstrin homology domain
• PH-like domain superfamily
• Rab-GAP-TBC domain superfamily
• Rab GTPase-activating TBC domain-containing protein
• PH domain
• Rab-GTPase-TBC domain

KeywordsUniProt

• Coiled coil
• Endosome
• GTPase activation
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of TBC1D2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GABARAPL1