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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBC1D22B
TBC1 domain family member 22B
Chromosome 6 · 6p21.2
NCBI Gene: 55633Ensembl: ENSG00000065491.9HGNC: HGNC:21602UniProt: Q9NU19
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cilium assemblyprotein binding14-3-3 protein bindingGTPase activator activityovarian neoplasmplacenta praeviabreast cancerliver disease
✦AI Summary

TBC1D22B is a GTPase-activating protein (GAP) that regulates membrane trafficking and cellular metabolism with emerging roles in cancer. Functionally, TBC1D22B acts as a RAB-family GAP, specifically inactivating RAB1B to inhibit ER-to-Golgi transport 1. It also participates in tubular endosome formation through GAP-activity-dependent mechanisms 2. Beyond canonical trafficking functions, TBC1D22B interacts with ACBD3 at the Golgi apparatus, where it competes with phosphatidylinositol 4-kinase recruitment, potentially regulating lipid signaling 3. Clinically, TBC1D22B overexpression associates with poor prognosis in breast cancer, particularly triple-negative breast cancer, where it drives a glycolytic metabolic phenotype 4. In breast cancer cells, TBC1D22B promotes oncogenic programs through its GAP-dependent inhibition of ER-to-Golgi trafficking, leading to repression of extracellular matrix and adhesion genes that facilitate tumor growth 1. Additionally, TBC1D22B hypomethylation at specific CpG sites associates with increased risk of venous thromboembolism recurrence in men, suggesting broader vascular implications 5. These findings establish TBC1D22B as a multifunctional membrane trafficking regulator with significant implications for cancer progression and thrombotic disease risk.

Sources cited
1
TBC1D22B is a GAP that inactivates RAB1B to inhibit ER-to-Golgi transport and promotes breast cancer growth through transcriptional reprogramming of adhesion genes
PMID: 40878439
2
TBC1D22B functions as a Rab-GAP required for tubular endosome formation in a GAP-activity-dependent manner
PMID: 40241313
3
TBC1D22B is highly expressed in triple-negative breast cancer and causally determines glycolytic phenotype, predicting poor prognosis
PMID: 39231952
4
TBC1D22B hypomethylation associates with sex-biased recurrence risk in venous thromboembolism
PMID: 39848545
5
TBC1D22B interacts with ACBD3 at the Golgi and competes with PI4KB for ACBD3 binding
PMID: 23572552
Disease Associationsⓘ20
ovarian neoplasmOpen Targets
0.25Weak
placenta praeviaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.06Suggestive
liver diseaseOpen Targets
0.06Suggestive
ankylosing spondylitisOpen Targets
0.04Suggestive
spondyloarthropathyOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
cryopyrin-associated periodic syndromeOpen Targets
0.00Suggestive
cutaneous melanomaOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
visceral LeishmaniasisOpen Targets
0.00Suggestive
venous thromboembolismOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D1Shared pathway100%TBC1D19Shared pathway100%TBC1D3Shared pathway100%TBC1D16Shared pathway100%TBC1D22AShared pathway76%PROCA1Protein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
50%
Lung
48%
Brain
46%
Liver
32%
Heart
32%
Gene Interaction Network
Click a node to explore
TBC1D22BTBC1D1TBC1D19TBC1D3TBC1D16TBC1D22APROCA1
PROTEIN STRUCTURE
Preparing viewer…
PDB6D0S · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.35–0.63]
RankingsWhere TBC1D22B stands among ~20K protein-coding genes
  • #9,800of 20,598
    Most Researched43
  • #4,450of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedTBC1D22B
Sources retrieved5 papers
Response time—
📄 Sources
5
1
TBC1D22B Regulates ER-to-Golgi Trafficking via RAB1B Inactivation and Promotes Oncogenic Programs in Breast Cancer.
PMID: 40878439
Adv Sci (Weinh) · 2025
1.00
2
Identification of Rab GTPase-Activating Proteins Required for Tubular Endosome Formation.
PMID: 40241313
Traffic · 2025
0.80
3
TBC1 domain-containing proteins are frequently involved in triple-negative breast cancers in connection with the induction of a glycolytic phenotype.
PMID: 39231952
Cell Death Dis · 2024
0.60
4
Sex-specific DNA methylation marks associated with sex-biased risk of recurrence in unprovoked venous thromboembolism.
PMID: 39848545
J Thromb Haemost · 2025
0.40
5
ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding.
PMID: 23572552
mBio · 2013
0.20