| Evidence category | What was found | System/assay | Key quantitative/statistical details | Interpretation/limitations | Citation ID | Publication year | URL |
|---|---|---|---|---|---|---|---|
| Domain/lipid binding | SCP2D1 was included in a system-wide human lipid transfer protein study and classified among nine LTPs with no previously known ligands; a cropped Fig. 3a entry assigns SCP2D1 lipid associations with FA, LPC, LPE, LPG, PE, and PG/BMP, marked as novel/in vitro identifications. | Human-cell/in vitro lipid–protein complex mapping in a preprint; figure-based ligand assignment | Study-level stats reported in excerpt: 22/39 LTPs bound more than one lipid class; co-regulation metric ranged from +1.0 to −1.0, but no SCP2D1-specific effect size was provided in text. | Strongest current clue for biochemical function, but evidence is preprint-stage and the available excerpt lacks SCP2D1-specific binding constants, transfer rates, or localization details. | (pqac-00000008, pqac-00000018) | 2024 | https://doi.org/10.1101/2023.12.21.572821 |
| Cholesterol regulation | C20orf79/SCP2D1 knockdown increased both cellular cholesterol staining and LDL uptake, implicating the gene in cholesterol/LDL handling. | Targeted siRNA knockdown in HeLa cells with filipin cholesterol staining and DiI-LDL uptake high-content screens | Direction of effect: increased filipin signal and increased DiI-LDL internalization after knockdown; no SCP2D1-specific p-value or fold-change provided in excerpt. | Direct perturbation evidence supports a role in lipid/cholesterol homeostasis, but mechanism, substrate specificity, and subcellular site of action were not resolved. | (pqac-00000007) | 2009 | https://doi.org/10.1016/j.cmet.2009.05.009 |
| Cancer-testis expression | SCP2D1 was reported as a cancer-testis candidate gene expressed in colon cancer but not matched normal colon; also detected in leukemia samples and not breast cancer samples in the validation set. | RT-PCR/qRT-PCR on 20 matched colon cancer/normal colon pairs, plus 8 breast cancer and 8 leukemia samples | SCP2D1 was among the most frequently expressed CT genes in colon cancer: 35% of CC patients; expression reported in all leukemia samples tested and 0/8 breast cancer samples. | Supports testis-restricted/cancer-reactivated expression pattern, but cohort was small and evidence was mRNA-only; authors explicitly call for protein-level validation and larger studies. | (pqac-00000012, pqac-00000009) | 2022 | https://doi.org/10.3390/genes13050807 |
| Epigenetic regulation | SCP2D1 expression was inducible by epigenetic drugs in colon cancer cells, consistent with epigenetic silencing/reactivation of cancer-testis genes. | Colon cancer cell lines (Caco-2, HCT116) treated with 5-aza-2′-deoxycytidine and trichostatin A; RT-PCR/qRT-PCR | 5-aza-CdR tested at 1, 5, 10 µM for 48 or 72 h; SCP2D1 was activated by 5 µM 5-aza-CdR in Caco-2 only; TSA at 100 nM for 48 h induced SCP2D1 in both Caco-2 and HCT116. | Indicates regulation by DNA methylation and/or histone deacetylation, but no promoter methylation map, fold-change, or protein data were provided specifically for SCP2D1. | (pqac-00000010, pqac-00000011, pqac-00000014) | 2022 | https://doi.org/10.3390/ph15111319 |
| Genetics/CRISPR screens | Open Targets links SCP2D1 to neurodegenerative disease, liver disease, pneumonitis, abnormal central motor function, and rectosigmoid junction neoplasm, largely via CRISPRi neuron screens and genetic evidence. | Open Targets aggregation of CRISPRi and genetic-association evidence | Example association scores: neurodegenerative disease ~0.287; liver disease ~0.147; evidence rows cite PMID 34031600 from glutamatergic-neuron CellROX and PSAP-KO survival CRISPRi studies. | Useful as hypothesis-generating evidence, but association scores are modest and no mechanistic SCP2D1-specific phenotype details were extractable from the available screen text. | (pqac-00000002, pqac-00000000) | 2025 platform citation / 2021 underlying screen | https://platform.opentargets.org |
| Cardiovascular pQTL | SCP2D1 was one of 26 circulating proteins whose levels were associated with SCAD-linked variants at the 1q21.2 locus. | Integrative GWAS/pQTL analysis for spontaneous coronary artery dissection and aortic aneurysm/dissection | SCP2D1 is listed among proteins affected by 1q21.2 variants; detailed pQTL statistics were shown for ECM1, but not for SCP2D1; MR support in excerpt was for ECM1/SPOCK3/IL1B, not SCP2D1. | Suggests SCP2D1 is genetically linked to a cardiovascular risk locus at the protein level, but current evidence does not establish causality or SCP2D1-specific effect magnitude. | (pqac-00000016, pqac-00000017) | 2022 | https://doi.org/10.3389/fcvm.2022.874912 |


*Table: This table compiles the main lines of evidence currently available for human SCP2D1/C20orf79, spanning lipid binding, cholesterol regulation, cancer-testis expression, epigenetic control, screen-based genetics, and cardiovascular pQTL associations. It is useful for distinguishing direct functional evidence from weaker associative or preprint-stage findings.*