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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
198
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nabais Sa-de Vries syndrome Likely pathogenic rs2543841231 RCV003335885
Neurodevelopmental disorder with microcephaly and dysmorphic facies Likely pathogenic; Pathogenic rs2143269972, rs2072157379, rs2072153488 RCV002249179
RCV001030767
RCV001030768
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Likely pathogenic; Pathogenic rs2143268856, rs2072155694, rs968974699, rs2072168176 RCV003224990
RCV001030769
RCV001030771
RCV001030772
SPOP-related disorder Likely pathogenic rs2143295744 RCV003968584
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of urinary bladder - rs2143295744 RCV005922719
Medulloblastoma - rs1057519971 RCV006254437
Neoplasm Conflicting classifications of pathogenicity; -; Uncertain significance rs193920894, rs1057519968, rs1057519972, rs1057519971, rs2072168946 RCV005229977
RCV005231557
RCV005231561
RCV005231559
RCV006274068
Prostate cancer Uncertain significance; Conflicting classifications of pathogenicity rs193921065, rs193920894, rs1057519966, rs2072151207, rs2072151354, rs2072151553, rs368288966, rs2072151628, rs2072151724, rs2072151984, rs2072151912, rs2072152068, rs2072152148, rs2072152226, rs2072152352
View all (129 more)
RCV000149021
RCV000149020
RCV001030831
RCV001030933
RCV001030951
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RCV001030949
RCV001030948
RCV001030833
RCV001030947
RCV001030946
RCV001030945
RCV001030944
RCV001030878
RCV001030943
RCV001030876
RCV001030877
RCV001030875
RCV001030874
RCV001030873
RCV001030872
RCV001030871
RCV001030870
RCV001030867
RCV001030869
RCV001030868
RCV001030866
RCV001030864
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RCV001030862
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RCV001030894
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RCV001030879
RCV001030966
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RCV001030959
RCV001030958
RCV001030957
RCV001030956
RCV001030955
RCV001030960
RCV001030840
RCV001030839
RCV001030838
RCV001030848
RCV001030834
RCV001030836
RCV001030835
RCV001030837
RCV001030842
RCV001030841
RCV001030843
RCV001030844
RCV001030845
RCV001030846
RCV001030847
RCV001030962
RCV001030963
RCV001030961
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 25274033, 29295717, 30720096, 32233522
Adenocarcinoma Inhibit 37327205
Adenoma Associate 27494611
Adenomatoid Tumor Associate 28580939
Alzheimer Disease Associate 32345668, 32568785
Brain Neoplasms Associate 22688887
Breast Neoplasms Associate 23559371, 30244836
Carcinogenesis Associate 27780719, 28599312, 30237511, 33247697, 34987184, 35438056
Carcinogenesis Inhibit 34509929
Carcinoma Hepatocellular Associate 26156804, 37996058