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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPOP
speckle type BTB/POZ protein
Chromosome 17 Β· 17q21.33
NCBI Gene: 8405Ensembl: ENSG00000121067.20HGNC: HGNC:11254UniProt: O43791
218PubMed Papers
22Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingubiquitin protein ligase bindingidentical protein bindingmolecular function inhibitor activityneurodevelopmental disorder with microcephaly and dysmorphic faciesneurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomaliesprostate adenocarcinomaneurodegenerative disease
✦AI Summary

SPOP (speckle type BTB/POZ protein) functions as a substrate-binding adaptor of the CULLIN3/RING-box1 E3 ubiquitin ligase complex that mediates polyubiquitination of diverse target proteins 1. SPOP catalyzes both degradative and non-degradative ubiquitination of substrates including androgen receptor (AR), BRD4, PD-L1, c-Myc, and p62/SQSTM1, regulating pathways critical for cell proliferation, DNA repair, and immune surveillance 1. Mechanistically, SPOP binding promotes proteasomal degradation of most targets, though some substrates undergo non-degradative modification affecting their activity 1. SPOP's role in cancer is context-dependent: it functions as a tumor suppressor in prostate and endometrial cancers, where mutations impair substrate recognition and polyubiquitination 12. SPOP mutations in prostate cancer promote p62-dependent autophagy and Nrf2 activation in a dominant-negative manner, conferring oncogenic advantage 3. Conversely, SPOP is overexpressed in renal cell carcinoma, acting as an oncoprotein 1. In bladder cancer, SPOP-mediated LATS1 degradation suppresses Hippo signaling 4. Loss-of-function SPOP mutations compromise PD-L1 degradation, increasing immune checkpoint expression and reducing anti-tumor immunity 5. SPOP mutations define a molecular subtype in primary prostate cancer associated with elevated AR signaling 2. Understanding SPOP's substrate specificity and regulation offers therapeutic opportunities for SPOP-mutated cancers.

Sources cited
1
SPOP is a substrate-binding adaptor of CULLIN3/RING-box1 E3 ligase complex that mediates polyubiquitination of AR, BRD4, PD-L1, c-Myc and other substrates; mutations impair substrate binding; overexpressed in RCC but mutated in prostate/endometrial cancers
PMID: 36512624
2
SPOP mutations define a molecular subtype in 333 primary prostate carcinomas with highest AR-induced transcriptional activity
PMID: 26544944
3
SPOP induces non-degradative ubiquitination of p62/SQSTM1; SPOP mutations promote p62-dependent autophagy and Nrf2 activation in prostate cancer
PMID: 34987184
4
SPOP mediates LATS1 degradation; circXRN2 prevents SPOP-mediated LATS1 degradation to activate Hippo pathway in bladder cancer
PMID: 37684641
5
SPOP ubiquitinates PD-L1 for proteasomal degradation; loss-of-function SPOP mutations increase PD-L1 levels and reduce tumor-infiltrating lymphocytes
PMID: 29160310
Disease Associationsβ“˜22
neurodevelopmental disorder with microcephaly and dysmorphic faciesOpen Targets
0.68Moderate
neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomaliesOpen Targets
0.68Moderate
prostate adenocarcinomaOpen Targets
0.67Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
endometrial cancerOpen Targets
0.39Weak
prostate carcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Clear Cell AdenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Uterine CarcinosarcomaOpen Targets
0.36Weak
genetic disorderOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.30Weak
non-small cell lung carcinomaOpen Targets
0.30Weak
diffuse large B-cell lymphomaOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.30Weak
papillary thyroid carcinomaOpen Targets
0.30Weak
melanomaOpen Targets
0.29Weak
Nabais Sa-de Vries syndrome 1UniProt
Nabais Sa-de Vries syndrome 2UniProt
Pathogenic Variants12
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)Pathogenic
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 138
NM_001007228.2(SPOP):c.223G>A (p.Gly75Arg)Pathogenic
SPOP-related neurodevelopmental condition|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 75
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)Pathogenic
Neurodevelopmental disorder with microcephaly and dysmorphic facies
β˜…β˜…β˜†β˜†2022β†’ Residue 144
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)Pathogenic
Neurodevelopmental disorder with microcephaly and dysmorphic facies|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 121
NM_001007228.2(SPOP):c.622G>T (p.Gly208Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 208
NM_001007228.2(SPOP):c.352G>A (p.Glu118Lys)Likely pathogenic
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
β˜…β˜†β˜†β˜†2023β†’ Residue 118
NM_001007228.2(SPOP):c.312C>A (p.Phe104Leu)Likely pathogenic
Neurodevelopmental disorder with microcephaly and dysmorphic facies
β˜…β˜†β˜†β˜†2022β†’ Residue 104
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val)Likely pathogenic
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
β˜…β˜†β˜†β˜†2020β†’ Residue 132
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)Likely pathogenic
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
β˜…β˜†β˜†β˜†2020β†’ Residue 83
NM_001007228.2(SPOP):c.257T>C (p.Leu86Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 86
NM_001007228.2(SPOP):c.468_469insAA (p.Leu157fs)Likely pathogenic
Nabais Sa-de Vries syndrome
β˜…β˜†β˜†β˜†β†’ Residue 157
NM_001007228.2(SPOP):c.79-1G>CLikely pathogenic
not provided|SPOP-related disorder|Squamous cell carcinoma of the head and neck
β˜†β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
CUL3Protein interaction100%SUFUProtein interaction100%GLI1Protein interaction99%GLI2Protein interaction99%GLI3Protein interaction99%PTENProtein interaction99%
Tissue Expression6 tissues
Heart
100%
Brain
95%
Ovary
81%
Lung
79%
Liver
70%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
SPOPCUL3SUFUGLI1GLI2GLI3PTEN
PROTEIN STRUCTURE
Preparing viewer…
PDB3IVV Β· 1.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.14–0.38]
RankingsWhere SPOP stands among ~20K protein-coding genes
  • #1,902of 20,598
    Most Researched218 Β· top 10%
  • #2,650of 5,498
    Most Pathogenic Variants12
  • #1,795of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedSPOP
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Deregulation of SPOP in Cancer.
PMID: 36512624
Cancer Res Β· 2023
1.00
2
The Molecular Taxonomy of Primary Prostate Cancer.
PMID: 26544944
Cell Β· 2015
0.90
3
CircXRN2 suppresses tumor progression driven by histone lactylation through activating the Hippo pathway in human bladder cancer.
PMID: 37684641
Mol Cancer Β· 2023
0.80
4
CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.
PMID: 38308184
Adv Sci (Weinh) Β· 2024
0.72
5
Genomic correlates of clinical outcome in advanced prostate cancer.
PMID: 31061129
Proc Natl Acad Sci U S A Β· 2019
0.70