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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SUSD6
sushi domain containing 6
Chromosome 14 · 14q24.1
NCBI Gene: 9766Ensembl: ENSG00000100647.9HGNC: HGNC:19956UniProt: Q92537
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA damage responsemembranecardiac arrestexostosismedical procedurecomplication
✦AI Summary

SUSD6 (sushi domain containing 6) is a membrane-associated negative regulator of MHC-I antigen presentation with critical roles in cancer immune evasion and cellular senescence. Mechanistically, SUSD6 forms a trimolecular complex with transmembrane protein TMEM127 and MHC-I, recruiting the E3 ubiquitin ligase WWP2 to promote MHC-I ubiquitination and lysosomal degradation 1. SUSD6 functions as a co-disinhibitory adaptor that activates WWP2 through its PY motif, working together with TMEM127 to relieve WWP2 autoinhibition 2. In cancer biology, SUSD6 is abundantly expressed in acute myeloid leukemia and solid tumors, where its ablation enhances MHC-I presentation and reduces tumor growth in a CD8+ T cell-dependent manner 1. The SUSD6/TMEM127/WWP2 gene signature negatively correlates with cancer survival, establishing this axis as a potential immunotherapy target 1. In cellular senescence, SUSD6 expression is downregulated during inflammageing-induced cell cycle arrest in human gingival fibroblasts exposed to pro-inflammatory stimuli 3. Clinically, SUSD6 represents a promising therapeutic target for overcoming immune checkpoint blockade resistance in both hematologic and solid malignancies through restoration of anti-tumor T cell immunity.

Sources cited
1
SUSD6 is a negative regulator of MHC-I, forms a complex with TMEM127 and recruits WWP2 for MHC-I degradation; its ablation enhances MHC-I presentation and CD8+ T cell-dependent tumor suppression
PMID: 37557169
2
SUSD6 and TMEM127 function as co-disinhibitory pairs to activate the E3 ubiquitin ligase WWP2 through PY motif interactions
PMID: 41135677
3
SUSD6 expression is downregulated in human gingival fibroblasts during inflammageing and cellular senescence induced by pro-inflammatory stimuli
PMID: 38203178
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
cardiac arrestOpen Targets
0.23Weak
exostosisOpen Targets
0.23Weak
complicationOpen Targets
0.22Weak
medical procedureOpen Targets
0.22Weak
trauma complicationOpen Targets
0.22Weak
gliomaOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
Varicose veinsOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
FTH1-related iron overloadOpen Targets
0.04Suggestive
hemochromatosis type 5Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IGHMBP2Shared pathway100%ZNF432Shared pathway100%SPINDOCShared pathway100%FLYWCH1Shared pathway100%DCPH1Shared pathway100%ZBTB4Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
57%
Heart
28%
Brain
27%
Ovary
21%
Liver
17%
Gene Interaction Network
Click a node to explore
SUSD6IGHMBP2ZNF432SPINDOCFLYWCH1DCPH1ZBTB4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92537
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.36–0.81]
RankingsWhere SUSD6 stands among ~20K protein-coding genes
  • #14,824of 20,598
    Most Researched18
  • #6,868of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedSUSD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A membrane-associated MHC-I inhibitory axis for cancer immune evasion.
PMID: 37557169
Cell · 2023
1.00
2
Further varieties of ancient endogenous retrovirus in human DNA.
PMID: 40083010
Mob DNA · 2025
0.90
3
A Cell-Surface MHC-I Inhibitory Axis Promotes Immune Evasion in Cancer.
PMID: 37594242
Cancer Discov · 2023
0.80
4
Mammalian and bacterial adaptors function as co-disinhibitory pairs to activate the E3 ubiquitin ligase WWP2.
PMID: 41135677
J Biol Chem · 2025
0.70
5
Biological Effects of "Inflammageing" on Human Oral Cells: Insights into a Potential Confounder of Age-Related Diseases.
PMID: 38203178
Int J Mol Sci · 2023
0.60