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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SFT2D2
SFT2 domain containing 2
Chromosome 1 · 1q24.2
NCBI Gene: 375035Ensembl: ENSG00000213064.11HGNC: HGNC:25140UniProt: O95562
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular exosomecytoplasmmembraneneurodegenerative diseaseplacenta praeviaAlzheimer diseaseParkinson disease
✦AI Summary

SFT2D2 (SFT2 domain containing 2) is a membrane-associated protein involved in vesicular trafficking and cellular homeostasis. Based on functional studies, SFT2D2 plays a role in endosome-to-Golgi retrieval, a critical membrane trafficking pathway 1. The protein contains extracellular exosome localization and exhibits protein-binding capacity [GO annotations provided]. In disease contexts, SFT2D2 has emerged as a functionally significant gene in multiple pathological conditions. A chimeric SFT2D2-TBX19 transcript promotes prostate cancer progression by encoding the TBX19-202 protein and stabilizing mitochondrial ATP synthase through ATP5F1A phosphorylation, enhancing ATP production and supporting cancer cell proliferation even under mitochondrial stress 2. Anti-SFT2D2 autoantibodies contribute to psychotic behavior in mice with compromised blood-brain barrier by activating glial cells, reducing dendritic spine density, and increasing complement molecule C4 expression, suggesting involvement in synaptic plasticity 3. SFT2D2 was identified as part of a 15-gene signature predicting bone metastasis in breast cancer with 81.2% accuracy in independent validation 4, and appears dysregulated in triple-negative breast cancer as a potential biomarker 5. Additionally, SFT2D2 expression is significantly decreased in Parkinson's disease patients, implicating it in neurodegeneration 6. These findings establish SFT2D2 as a pleiotropic gene with roles in normal trafficking and disease-associated pathways.

Sources cited
1
Chimeric SFT2D2-TBX19 promotes prostate cancer progression by stabilizing mitochondrial ATP synthase and enhancing ATP production
PMID: 39540264
2
Anti-SFT2D2 autoantibodies alter dendritic spine density and cause psychotic behavior in mice with compromised blood-brain barrier
PMID: 38262166
3
SFT2D2 is a multipass membrane protein required for endosome-to-Golgi retrieval
PMID: 25464851
4
SFT2D2 is part of a 15-gene signature predicting bone metastasis in breast cancer with high accuracy
PMID: 26965286
5
SFT2D2 is identified as a potential biomarker in triple-negative breast cancer
PMID: 30146936
6
SFT2D2 expression is significantly decreased in Parkinson's disease patients
PMID: 36593912
7
SFT2D2 is a dysregulated gene associated with both periodontitis and pancreatic cancer
PMID: 40294979
8
SFT2D2 transcript cluster shows altered expression in response to gravitational force changes in human T cells
PMID: 31947583
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
placenta praeviaOpen Targets
0.31Weak
Alzheimer diseaseOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.29Weak
poisoningOpen Targets
0.11Weak
response to xenobiotic stimulusOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.01Suggestive
prostate neoplasmOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
acute quadriplegic myopathyOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Epileptic encephalopathyOpen Targets
0.00Suggestive
cutaneous lupus erythematosusOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MEGF6Shared pathway100%CD163Shared pathway100%RAB36Shared pathway100%CACFD1Shared pathway100%LRP10Shared pathway100%YIPF1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
50%
Brain
37%
Lung
34%
Liver
32%
Heart
12%
Gene Interaction Network
Click a node to explore
SFT2D2MEGF6CD163RAB36CACFD1LRP10YIPF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95562
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.56–1.16]
RankingsWhere SFT2D2 stands among ~20K protein-coding genes
  • #13,301of 20,598
    Most Researched24
  • #12,097of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedSFT2D2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chimeric SFT2D2-TBX19 Promotes Prostate Cancer Progression by Encoding TBX19-202 Protein and Stabilizing Mitochondrial ATP Synthase through ATP5F1A Phosphorylation.
PMID: 39540264
Adv Sci (Weinh) · 2024
1.00
2
Anti-SFT2D2 autoantibodies alter dendrite spine and cause psychotic behavior in mice.
PMID: 38262166
J Psychiatr Res · 2024
0.90
3
Rapid Cellular Perception of Gravitational Forces in Human Jurkat T Cells and Transduction into Gene Expression Regulation.
PMID: 31947583
Int J Mol Sci · 2020
0.80
4
A novel gene expression signature for bone metastasis in breast carcinomas.
PMID: 26965286
Breast Cancer Res Treat · 2016
0.70
5
Identification of Common miRNAs Differentially Expressed in Periodontitis and Pancreatic Cancer.
PMID: 40294979
In Vivo · 2025
0.60