Gene Gene information from NCBI Gene database.
Entrez ID 8405
Gene name Speckle type BTB/POZ protein
Gene symbol SPOP
Synonyms (NCBI Gene)
BTBD32NEDMACENEDMIDFNSDVS1NSDVS2TEF2
Chromosome 17
Chromosome location 17q21.33
Summary This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein bin
miRNA miRNA information provided by mirtarbase database.
226
miRTarBase ID miRNA Experiments Reference
MIRT644598 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT644597 hsa-miR-5088-3p HITS-CLIP 23824327
MIRT644596 hsa-miR-1237-3p HITS-CLIP 23824327
MIRT644595 hsa-miR-4772-3p HITS-CLIP 23824327
MIRT644594 hsa-miR-2276-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 14528312
GO:0005515 Function Protein binding IPI 16189514, 21573799, 21577200, 21988832, 22632832, 24656772, 28514442, 33961781, 35512704
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 22085717
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602650 11254 ENSG00000121067
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43791
Protein name Speckle-type POZ protein (HIB homolog 1) (Roadkill homolog 1)
Protein function Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination a
PDB 2CR2 , 3HQH , 3HQI , 3HQL , 3HQM , 3HSV , 3HTM , 3HU6 , 3IVB , 3IVQ , 3IVV , 4EOZ , 4HS2 , 4J8Z , 4O1V , 6F8F , 6F8G , 6I41 , 6I5P , 6I68 , 6I7A , 7D3D , 7KLZ , 7LIN , 7LIO , 7LIP , 7LIQ , 8DWS , 8DWT , 8DWU , 8DWV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00917 MATH 38 163 MATH domain Domain
PF00651 BTB 190 297 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9414087}.
Sequence
Sequence length 374
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hedgehog signaling pathway   Hedgehog 'on' state
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Nabais Sa-de Vries syndrome Likely pathogenic rs2543841231 RCV003335885
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with microcephaly and dysmorphic facies Likely pathogenic; Pathogenic rs2143269972, rs2072157379, rs2072153488 RCV002249179
RCV001030767
RCV001030768
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Likely pathogenic; Pathogenic rs2143268856, rs2072155694, rs968974699, rs2072168176 RCV003224990
RCV001030769
RCV001030771
RCV001030772
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPOP-related disorder Likely pathogenic rs2143295744 RCV003968584
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, DUCTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 25274033
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31105033, 31392082
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 25274033, 28414305
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma CGI_DG
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 31776466
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32345668, 32568785 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 29523594
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 30882175
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 22688887 Associate
★☆☆☆☆
Found in Text Mining only