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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TBC1D21
TBC1 domain family member 21
Chromosome 15 · 15q24.1
NCBI Gene: 161514Ensembl: ENSG00000167139.9HGNC: HGNC:28536UniProt: Q8IYX1
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityprotein bindingregulation of cilium assemblysmall GTPase bindingadolescent idiopathic scoliosisDupuytren Contracturemood disorderdepressive disorder
✦AI Summary

TBC1D21 is a testis-enriched GTPase-activating protein (RabGAP) essential for male fertility through regulation of Rab family proteins 12. During spermiogenesis, TBC1D21 localizes to the acrosomal region, neck, and sperm midpiece, where it plays critical roles in spermatid development 3. Loss of TBC1D21 causes male infertility characterized by severe defects in sperm tail structure, including abnormal mitochondrial arrangement, irregular diameter, and disrupted axoneme organization, with diminished sperm motility as a consequence 4. TBC1D21 functions as an adherence factor between mitochondria by facilitating interactions between ARMC12 and mitochondrial outer membrane proteins VDAC2 and VDAC3, thereby organizing the mitochondrial sheath that wraps around the axoneme 5. The protein likely regulates acrosome formation and cytoskeletal reorganization by inactivating RAB3A activity 3. Clinically, TBC1D21 transcript levels are significantly reduced in sperm from teratozoospermia patients compared to normozoospermic controls 4. Additionally, variants in TBC1D21 show population-specific associations with exfoliation glaucoma susceptibility in Asian populations 6.

Sources cited
1
Loss of Tbc1d21 causes male infertility with abnormal sperm mitochondria and axoneme structure; reduced TBC1D21 transcript levels observed in teratozoospermia cases
PMID: 32976492
2
TBC1D21 is essential for mitochondrial sheath formation and facilitates ARMC12 interactions with VDAC2 and VDAC3 proteins
PMID: 33536340
3
TBC1D21 (MgcRabGAP) is expressed in elongating/elongated spermatids and localizes to acrosomal region, neck, and annulus; potentially regulates Rab3A activity in acrosome formation
PMID: 21128978
4
TBC1D21 variants at 15q24.1 locus associated with exfoliation glaucoma susceptibility in Asian populations
PMID: 24938310
5
TBC1D21 acts as a GTPase-activating protein for Rab family proteins
PMID: 19077034
6
TBC1D21 acts as a GTPase-activating protein for Rab family proteins
PMID: 28067790
7
TBC1D21 interacts with and regulates Rap1 during spermiogenesis with similar localization patterns in spermatids
PMID: 30360518
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.31Weak
Dupuytren ContractureOpen Targets
0.31Weak
depressive disorderOpen Targets
0.29Weak
mood disorderOpen Targets
0.29Weak
parasitic infectionOpen Targets
0.26Weak
major depressive disorderOpen Targets
0.23Weak
ventricular fibrillationOpen Targets
0.21Weak
dysthymic disorderOpen Targets
0.19Weak
obesityOpen Targets
0.13Weak
azoospermiaOpen Targets
0.11Weak
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
spermatogenic failure 20Open Targets
0.09Suggestive
spermatogenic failure 78Open Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.09Suggestive
spermatogenic failure 5Open Targets
0.09Suggestive
spermatogenic failure 26Open Targets
0.09Suggestive
spermatogenic failure 31Open Targets
0.09Suggestive
spermatogenic failure 53Open Targets
0.09Suggestive
spermatogenic failure 87Open Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFAP65Shared pathway50%DRC7Shared pathway43%MNS1Shared pathway38%TMEM232Shared pathway33%CABS1Shared pathway33%CFAP58Shared pathway30%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Liver
0%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
TBC1D21CFAP65DRC7MNS1TMEM232CABS1CFAP58
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYX1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.62–1.05]
RankingsWhere TBC1D21 stands among ~20K protein-coding genes
  • #15,411of 20,598
    Most Researched16
  • #10,541of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedTBC1D21
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice.
PMID: 32976492
PLoS Genet · 2020
1.00
2
ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.
PMID: 33536340
Proc Natl Acad Sci U S A · 2021
0.83
3
TBC1D21 Potentially Interacts with and Regulates Rap1 during Murine Spermatogenesis.
PMID: 30360518
Int J Mol Sci · 2018
0.67
4
Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.
PMID: 24938310
Sci Rep · 2014
0.50
5
Microbial signatures in head and neck squamous cell carcinoma: an in silico study.
PMID: 39907412
J Appl Oral Sci · 2025
0.33