HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GMCL2
germ cell-less 2, spermatogenesis associated
Chromosome 5 Β· 5q35.3
NCBI Gene: 64396Ensembl: ENSG00000244234.3HGNC: HGNC:19717UniProt: Q8NEA9
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcullin family protein bindingnucleusprotein ubiquitinationazoospermiaspermatogenic failure 78partial chromosome Y deletionspermatogenic failure 65
✦AI Summary

Based on limited published evidence, GMCL2 is a probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex mediating ubiquitination and proteasomal degradation of target proteins 1. It possesses cullin family protein binding capacity and localizes to the nucleus. The related paralog GMCL1, but not GMCL2, directly interacts with 53BP1 and functions in mitotic surveillance regulation 2. GMCL2's specific biological role in spermatogenesis and its substrate targets remain largely uncharacterized.

Sources cited
1
GMCL2 is a probable substrate-specific adapter of E3 ubiquitin-protein ligase complex mediating protein ubiquitination and proteasomal degradation
PMID: 14528312
2
GMCL2 does not interact with 53BP1, in contrast to its paralog GMCL1 which functions as a negative regulator of mitotic surveillance signaling
PMID: 41553759
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
azoospermiaOpen Targets
0.10Weak
spermatogenic failure 78Open Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
deafness-infertility syndromeOpen Targets
0.08Suggestive
spermatogenic failure 54Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
spermatogenic failure 94Open Targets
0.08Suggestive
spermatogenic failure 51Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.08Suggestive
spermatogenic failure 39Open Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.08Suggestive
spermatogenic failure 91Open Targets
0.08Suggestive
spermatogenic failure 40Open Targets
0.08Suggestive
spermatogenic failure 10Open Targets
0.08Suggestive
spermatogenic failure 11Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GMCL1Shared pathway100%DAZLShared pathway33%TCP11Shared pathway33%DND1Shared pathway25%RNF2Shared pathway25%TDRD5Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Heart
0%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GMCL2GMCL1DAZLTCP11DND1RNF2TDRD5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NEA9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.61 [0.33–1.20]
RankingsWhere GMCL2 stands among ~20K protein-coding genes
  • #15,873of 20,598
    Most Researched14
  • #12,630of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedGMCL2
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
GMCL1 controls 53BP1 stability and modulates taxane sensitivity.
PMID: 41553759
Elife Β· 2026
1.00