HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPATA18
spermatogenesis associated 18
Chromosome 4 · 4q12
NCBI Gene: 132671Ensembl: ENSG00000163071.12HGNC: HGNC:29579UniProt: A0A140VKF4
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingmolecular condensate scaffold activitycardiolipin bindingtype 2 diabetes mellitusAbnormality of the skeletal systemlobe attachmentpreeclampsia
✦AI Summary

SPATA18 is a key regulator of mitochondrial quality control that mediates the repair or degradation of damaged mitochondria through multiple mechanisms 1234. The protein promotes mitochondrial protein degradation by facilitating the accumulation of lysosomal hydrolases in the mitochondrial matrix and mediates mitophagy through the formation of vacuole-like structures that engulf unhealthy mitochondria 1234. SPATA18 functions through physical interactions with BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane to regulate pore opening for lysosomal protein translocation 3. Additionally, SPATA18 binds cardiolipin and may form molecular condensates within mitochondria to compartmentalize cardiolipin metabolism 5. The gene is a transcriptional target of p53 and p63, linking it to DNA damage responses 6. DNA damage induces mitophagy through a SPATA18-dependent pathway that maintains mitochondrial function and supports DNA repair 7. Clinically, SPATA18 expression serves as a favorable prognostic marker in colorectal cancer and clear cell renal cell carcinoma 89. Loss of SPATA18 function contributes to cancer progression by suppressing mitophagy and promoting cell invasion 10.

Sources cited
1
SPATA18 mediates repair/degradation of unhealthy mitochondria and promotes mitochondrial protein degradation
PMID: 21264221
2
SPATA18 promotes formation of vacuole-like structures for mitochondrial degradation
PMID: 21264228
3
SPATA18 interacts with BNIP3 and BNIP3L/NIX to regulate mitochondrial membrane pore opening
PMID: 22292033
4
SPATA18 functions in mitochondrial quality control and protein degradation
PMID: 22532927
5
SPATA18 binds cardiolipin and forms molecular condensates for cardiolipin metabolism
PMID: 38322995
6
SPATA18 is a transcriptional target of p53 and p63
PMID: 21300779
7
DNA damage induces mitophagy through SPATA18-dependent pathway
PMID: 32453416
8
SPATA18 expression predicts favorable outcome in colorectal cancer
PMID: 35269894
9
High SPATA18 expression associated with good prognosis in clear cell renal cell carcinoma
PMID: 36751118
10
SPATA18 deletion suppresses mitophagy and promotes cancer cell invasion
PMID: 38183982
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.16Weak
Abnormality of the skeletal systemOpen Targets
0.15Weak
lobe attachmentOpen Targets
0.15Weak
preeclampsiaOpen Targets
0.15Weak
diabetes mellitusOpen Targets
0.12Weak
chondromalaciaOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
uterine fibroidOpen Targets
0.11Weak
rheumatic diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
essential hypertensionOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
intestinal neoplasmOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SGCBProtein interaction79%BNIP3LProtein interaction50%AFG1LShared pathway50%ZNF558Co-mentioned in literature50%CLPPShared pathway20%PISDShared pathway17%
Tissue Expression6 tissues
Lung
100%
Liver
97%
Brain
93%
Heart
75%
Ovary
60%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
SPATA18SGCBBNIP3LAFG1LZNF558CLPPPISD
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TC71
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.60–0.97]
RankingsWhere SPATA18 stands among ~20K protein-coding genes
  • #10,548of 20,598
    Most Researched38
  • #9,155of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedSPATA18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Evolutionary proteogenomic landscape from pre-invasive to invasive lung adenocarcinoma.
PMID: 38183982
Cell Rep Med · 2024
1.00
2
SPATA18, a spermatogenesis-associated gene, is a novel transcriptional target of p53 and p63.
PMID: 21300779
Mol Cell Biol · 2011
0.90
3
High SPATA18 Expression and its Diagnostic and Prognostic Value in Clear Cell Renal Cell Carcinoma.
PMID: 36751118
Med Sci Monit · 2023
0.80
4
Analysis of human neuronal cells carrying ASTN2 deletion associated with psychiatric disorders.
PMID: 38830862
Transl Psychiatry · 2024
0.70
5
SPATA18 Expression Predicts Favorable Clinical Outcome in Colorectal Cancer.
PMID: 35269894
Int J Mol Sci · 2022
0.60