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7 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SCFD2
sec1 family domain containing 2
Chromosome 4 Β· 4q12
NCBI Gene: 152579Ensembl: ENSG00000184178.18HGNC: HGNC:30676UniProt: Q8WU76
32PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intracellular protein transportvesicle-mediated transportopen-angle glaucomaUterine leiomyomadeficiency anemiaPancreatic pseudocyst
✦AI Summary

SCFD2 (sec1 family domain containing 2) is a putative protein transport regulator belonging to the Sec1 family of proteins. The gene is annotated for roles in intracellular protein transport and vesicle-mediated transport 1, though direct functional validation is limited in the provided literature. Clinically, SCFD2 has emerged as significant in multiple malignancies. In acute myeloid leukemia, ETV6-SCFD2 fusion events occur in t(4;12)(q12;p13) translocations and represent an alternative to previously misidentified ETV6-PDGFRA fusions, explaining imatinib insensitivity in affected patients 1. In ER-positive breast cancer, SCFD2 functions as a downstream target of the RNA-binding protein PSF/SFPQ and serves as an independent poor prognostic indicator; SCFD2 knockdown suppresses breast cancer cell proliferation and tamoxifen-resistant tumor growth 23. SCFD2 expression is post-transcriptionally regulated by both PSF and PSPC1, with elevated SCFD2 immunoreactivity correlating with poor prognosis in hormone-dependent breast cancer 3. Additionally, long noncoding RNA lnc-SCFD2-2 shows association with progression-free survival in prostate cancer, suggesting SCFD2's involvement in metastatic disease progression 4. SCFD2 was also identified as a p53 target gene under stress conditions 5. These findings position SCFD2 as a potential therapeutic target in hormone-refractory cancers and a biomarker for aggressive malignancies.

Sources cited
1
ETV6-SCFD2 fusion occurs in t(4;12)(q12;p13) AML translocations and causes imatinib insensitivity
PMID: 34587239
2
SCFD2 is a PSF target gene and poor prognostic indicator in ER-positive breast cancer; SCFD2 knockdown suppresses proliferation
PMID: 32213542
3
SCFD2 is a downstream target regulated post-transcriptionally by PSPC1/PSF axis; strong SCFD2 expression correlates with poor prognosis in hormone-dependent breast cancer and SCFD2 silencing suppresses tamoxifen-resistant tumor growth
PMID: 35681031
4
lnc-SCFD2-2 is an independent prognostic marker associated with progression-free time in prostate cancer
PMID: 37140987
5
SCFD2 is identified as a p53 target gene bound under both DNA-damaging and non-DNA-damaging stress conditions
PMID: 16980608
Disease Associationsβ“˜20
open-angle glaucomaOpen Targets
0.44Moderate
Uterine leiomyomaOpen Targets
0.31Weak
deficiency anemiaOpen Targets
0.31Weak
Pancreatic pseudocystOpen Targets
0.30Weak
frozen shoulderOpen Targets
0.29Weak
uterine fibroidOpen Targets
0.29Weak
sialolithiasisOpen Targets
0.28Weak
response to antihypertensive drugOpen Targets
0.27Weak
bronchial diseaseOpen Targets
0.27Weak
insomniaOpen Targets
0.26Weak
tongue cancerOpen Targets
0.26Weak
male reproductive organ cancerOpen Targets
0.24Weak
Umbilical herniaOpen Targets
0.24Weak
aneurysmOpen Targets
0.22Weak
post term pregnancyOpen Targets
0.22Weak
glaucomaOpen Targets
0.22Weak
chronic pancreatitisOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.18Weak
androgenetic alopeciaOpen Targets
0.16Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
Pathogenic Variants1
NM_152540.4(SCFD2):c.1148C>T (p.Pro383Leu)Likely pathogenic
Autism, susceptiblity to
β˜…β˜†β˜†β˜†2022β†’ Residue 383
View on ClinVar β†—
Related Genes
ARL4AShared pathway100%VPS45Shared pathway100%ARL17AShared pathway100%ARL11Shared pathway100%LOC107984156Shared pathway100%SEC22BProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Heart
70%
Bone Marrow
64%
Ovary
59%
Liver
55%
Lung
54%
Gene Interaction Network
Click a node to explore
SCFD2ARL4AVPS45ARL17AARL11LOC107984156SEC22B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WU76
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.18LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.75–1.18]
RankingsWhere SCFD2 stands among ~20K protein-coding genes
  • #11,609of 20,598
    Most Researched32
  • #5,247of 5,498
    Most Pathogenic Variants1
  • #12,399of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedSCFD2
Sources retrieved7 papers
Response timeβ€”
πŸ“„ Sources
7β–Ό
1
t(4;12)(q12;p13) ETV6-rearranged AML without eosinophilia does not involve PDGFRA: relevance for imatinib insensitivity.
PMID: 34587239
Blood Adv Β· 2022
1.00
2
PSF Promotes ER-Positive Breast Cancer Progression via Posttranscriptional Regulation of
PMID: 32213542
Cancer Res Β· 2020
0.86
3
Identification of long noncoding RNAs with aberrant expression in prostate cancer metastases.
PMID: 37140987
Endocr Relat Cancer Β· 2023
0.71
4
PSPC1 is a potential prognostic marker for hormone-dependent breast cancer patients and modulates RNA processing of ESR1 and SCFD2.
PMID: 35681031
Sci Rep Β· 2022
0.57
5
Functional analysis of p53 binding under differential stresses.
PMID: 16980608
Mol Cell Biol Β· 2006
0.43