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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPDEF
SAM pointed domain containing ETS transcription factor
Chromosome 6 · 6p21.31
NCBI Gene: 25803Ensembl: ENSG00000124664.12HGNC: HGNC:17257UniProt: O95238
87PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of apoptotic processprotein bindingsequence-specific DNA bindingsequence-specific double-stranded DNA bindingprostate carcinomadiabetes mellitusceliac diseaseAbnormality of the skeletal system
✦AI Summary

SPDEF (SAM pointed domain containing ETS transcription factor) is an epithelium-specific ETS transcription factor that plays critical roles in epithelial cell differentiation and mucus barrier function 1. The protein functions as a key regulator of goblet cell differentiation and mucin production, particularly in respiratory and intestinal epithelia 23. SPDEF is essential for IL-13-induced mucostasis in bronchial epithelial cells, where its disruption abolishes IL-13-induced MUC5AC expression and goblet cell differentiation, preventing impairment of mucociliary clearance 2. In the intestine, SPDEF serves as a goblet cell marker gene and is involved in macrophage-mediated regulation of mucin-2 production and epithelial barrier integrity 3. The transcription factor exhibits dual roles in cancer, functioning as either a tumor promoter or suppressor depending on cancer type 4. In prostate cancer, SPDEF has been identified as a potential biomarker for castration-resistant prostate cancer progression 5. Additionally, SPDEF expression has been detected in pancreatic intraductal papillary mucinous neoplasms, particularly in borderline cases alongside gastric neck cell markers 6. During brain development, SPDEF is highly expressed in the subcommissural organ and plays a role in proper neuronal development 7.

Sources cited
1
SPDEF is an epithelium-specific ETS transcription factor that maintains normal cell homeostasis and differentiation
PMID: 30200227
2
SPDEF is required for IL-13-induced goblet cell differentiation and MUC5AC expression in bronchial epithelial cells
PMID: 31596609
3
SPDEF serves as a goblet cell marker gene and is involved in mucin-2 production regulation
PMID: 35194640
4
SPDEF exhibits dual roles in cancer as either promoter or suppressor depending on cancer type
PMID: 35951453
5
SPDEF is a potential biomarker for castration-resistant prostate cancer progression
PMID: 31181727
6
SPDEF expression is found in borderline pancreatic intraductal papillary mucinous neoplasms
PMID: 38553466
7
SPDEF is highly expressed in the subcommissural organ and involved in brain development
PMID: 38741020
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.41Moderate
diabetes mellitusOpen Targets
0.29Weak
celiac diseaseOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
ACPA-positive rheumatoid arthritisOpen Targets
0.22Weak
breast carcinomaOpen Targets
0.20Weak
neoplasmOpen Targets
0.11Weak
intestinal impactionOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
posterior cortical atrophyOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
breast neoplasmOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
Patent ductus arteriosusOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.06Suggestive
pancreatic adenocarcinomaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARProtein interaction100%NKX3-1Protein interaction88%MACIRProtein interaction79%STAT6Protein interaction79%FOXA1Protein interaction71%NKX2-1Protein interaction71%
Tissue Expression6 tissues
Lung
100%
Brain
60%
Bone Marrow
50%
Heart
30%
Ovary
23%
Liver
17%
Gene Interaction Network
Click a node to explore
SPDEFARNKX3-1MACIRSTAT6FOXA1NKX2-1
PROTEIN STRUCTURE
Preparing viewer…
PDB1YO5 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.80Intermediate
Observed/Expected LoF0.36 [0.23–0.58]
RankingsWhere SPDEF stands among ~20K protein-coding genes
  • #5,517of 20,598
    Most Researched87
  • #3,844of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedSPDEF
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
An intercrypt subpopulation of goblet cells is essential for colonic mucus barrier function.
PMID: 33859001
Science · 2021
1.00
2
Gut microbiota-derived butyrate regulates gut mucus barrier repair by activating the macrophage/WNT/ERK signaling pathway.
PMID: 35194640
Clin Sci (Lond) · 2022
0.90
3
The role of SPDEF in cancer: promoter or suppressor.
PMID: 35951453
Neoplasma · 2022
0.80
4
ELF3, ELF5, EHF and SPDEF Transcription Factors in Tissue Homeostasis and Cancer.
PMID: 30200227
Molecules · 2018
0.70
5
The subcommissural organ regulates brain development via secreted peptides.
PMID: 38741020
Nat Neurosci · 2024
0.60