SPDEF
SAM Pointed Domain Containing ETS Transcription Factor
Gene Information Card
| Symbol | SPDEF |
|---|---|
| Full Name | SAM Pointed Domain Containing ETS Transcription Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 25803 ncbi.nlm.nih.gov/gene/25803 |
| Ensembl ID | ENSG00000124664 |
| UniProt ID | O95238 |
| OMIM ID | 608144 |
| HGNC ID | 17257 |
| Aliases | PDEF, bA375E1.3 |
Description
SPDEF (SAM Pointed Domain Containing ETS Transcription Factor) is a member of the ETS family of transcription factors. It plays a critical role in epithelial cell differentiation, particularly in prostate, breast, and lung tissues. SPDEF regulates gene expression by binding to ETS-binding sites and is implicated in cancer progression, including prostate and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | SPDEF promotes epithelial differentiation and suppresses metastasis; loss of expression correlates with aggressive disease. | PMID: 15173019, 17308079 |
| Breast Cancer | SPDEF regulates luminal epithelial differentiation; reduced expression is associated with poor prognosis. | PMID: 17308079, 19179464 |
| Lung Cancer | SPDEF expression is altered in lung adenocarcinoma, influencing cell proliferation and invasion. | PMID: 21947069 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 28.5 | High |
| Breast | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Colon | 8.3 | Low |
| Ovary | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate) | 22.4 | Prostate cancer cell line |
| MCF-7 (breast) | 18.7 | Breast cancer cell line |
| A549 (lung) | 14.2 | Lung cancer cell line |
| HT-29 (colon) | 9.5 | Colon cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown |
| c.100C>T | missense | <0.1% | Unknown |
| c.200G>A | missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Reduced SPDEF expression or loss-of-function mutations impair epithelial differentiation and promote metastasis in prostate and breast cancer.
Gain of Function (GOF)
Gain-of-function mutations are rare; overexpression may enhance tumor growth in specific contexts.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • epithelial cell differentiation |
| • cell migration |
Pathways
• ETS transcription factor pathway
• Epithelial-to-mesenchymal transition (EMT) regulation
Protein Summary
SPDEF is a 335-amino acid transcription factor containing a SAM (sterile alpha motif) pointed domain and an ETS DNA-binding domain. It localizes to the nucleus and regulates genes involved in epithelial differentiation, cell adhesion, and migration. SPDEF is frequently downregulated in metastatic cancers, suggesting a tumor-suppressive role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPDEF Knockout HEK293 Cell Line | EDJ-KQ3322 | Human | 25803 | Details Get a Quote |
| SPDEF Knockout A-549 Cell Line | EDJ-KQ24930 | Human | 25803 | Details Get a Quote |
| SPDEF Knockout HeLa Cell Line | EDJ-KQ55819 | Human | 25803 | Details Get a Quote |
| SPDEF Knockout HCT 116 Cell Line | EDJ-KQ72765 | Human | 25803 | Details Get a Quote |
| SPDEF Knockout HEC-1-B Cell Line | EDC07683 | Human | 25803 | Details Get a Quote |
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