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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBC1D25
TBC1 domain family member 25
Chromosome X · Xp11.23
NCBI Gene: 4943Ensembl: ENSG00000068354.17HGNC: HGNC:8092UniProt: B4DF03
25PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityprotein bindingregulation of autophagosome maturationautophagosomeoligospermiaretinitis pigmentosaX-linked retinal dysplasiaage-related macular degeneration
✦AI Summary

TBC1D25 is a GTPase-activating protein (RabGAP) specific for RAB33B that regulates autophagosome maturation and vesicle trafficking. As a RAB33B effector, TBC1D25 modulates the fusion of autophagosomes with endosomes and lysosomes, critical steps in autophagy flux 1. In osteoclasts, TBC1D25 localizes to the sealing zone and ruffled membrane, where it regulates cell polarization and bone resorption 2. TBC1D25 expression is significantly altered in Paget's disease of bone osteoclasts through alternative splicing, suggesting involvement in aberrant osteoclast biology 3. Clinically, TBC1D25 has disease relevance in male infertility, with a missense variant (p.Glu50Ala) identified in an X-linked oligozoospermia family, likely impairing autophagy-dependent spermatogenesis 4. Additionally, TBC1D25 participates in influenza virus replication by modulating RAB33B-dependent autophagy, which affects viral M2 protein trafficking 1. These findings establish TBC1D25 as a key regulator of autophagy-mediated cellular processes with implications for bone metabolism, fertility, and viral pathogenesis.

Sources cited
1
TBC1D25 functions as a GTPase-activating protein for RAB33B and regulates autophagy during influenza viral replication and M2 trafficking
PMID: 40598642
2
TBC1D25 is expressed in human osteoclasts at the sealing zone and ruffled membrane, regulating bone resorption and osteoclast polarization
PMID: 33353759
3
TBC1D25 shows alternative splicing events associated with Paget's disease of bone in osteoclasts
PMID: 25115182
4
A missense variant in TBC1D25 (p.Glu50Ala) causes X-linked oligozoospermia by impairing autophagy in spermatogenesis
PMID: 33460826
5
RAB33B, the target GTPase of TBC1D25, plays a role in nanoparticle trafficking and endosomal-lysosomal pathway
PMID: 27374232
Disease Associationsⓘ20
oligospermiaOpen Targets
0.27Weak
retinitis pigmentosaOpen Targets
0.11Weak
X-linked retinal dysplasiaOpen Targets
0.09Suggestive
age-related macular degenerationOpen Targets
0.09Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.08Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.08Suggestive
Stargardt diseaseOpen Targets
0.08Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
Progressive cone dystrophyOpen Targets
0.07Suggestive
age related macular degeneration 11Open Targets
0.07Suggestive
age related macular degeneration 2Open Targets
0.07Suggestive
age related macular degeneration 4Open Targets
0.07Suggestive
age related macular degeneration 6Open Targets
0.07Suggestive
age related macular degeneration 7Open Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
Familial drusenOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
X-linked retinoschisisOpen Targets
0.06Suggestive
Pathogenic Variants1
NM_002536.4(TBC1D25):c.4609C>TLikely pathogenic
Oligospermia
★☆☆☆2019
View on ClinVar ↗
Related Genes
USP6Protein interaction99%GABARAPL2Protein interaction98%ASPSCR1Protein interaction97%TFE3Protein interaction97%GABARAPProtein interaction96%GABARAPL1Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Lung
74%
Ovary
62%
Brain
58%
Liver
53%
Bone Marrow
51%
Gene Interaction Network
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TBC1D25USP6GABARAPL2ASPSCR1TFE3GABARAPGABARAPL1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q3MII6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.34 [0.22–0.53]
RankingsWhere TBC1D25 stands among ~20K protein-coding genes
  • #13,090of 20,598
    Most Researched25
  • #5,321of 5,498
    Most Pathogenic Variants1
  • #3,357of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedTBC1D25
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Alternative splicing in osteoclasts and Paget's disease of bone.
PMID: 25115182
BMC Med Genet · 2014
1.00
2
RabGAP TBC1D25 is involved in human osteoclast activity.
PMID: 33353759
Eur J Cell Biol · 2021
0.80
3
First evidence of involvement of TBC1D25 in causing human male infertility.
PMID: 33460826
Eur J Med Genet · 2021
0.60
4
Host cellular protein RAB33B facilitates influenza viral replication and modulates M2 trafficking by enhancing autophagy.
PMID: 40598642
Vet Res · 2025
0.40
5
A systematic High-Content Screening microscopy approach reveals key roles for Rab33b, OATL1 and Myo6 in nanoparticle trafficking in HeLa cells.
PMID: 27374232
Sci Rep · 2016
0.20