Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8405
Gene name Gene Name - the full gene name approved by the HGNC.
Speckle type BTB/POZ protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPOP
Synonyms (NCBI Gene) Gene synonyms aliases
BTBD32, NEDMACE, NEDMIDF, NSDVS1, NSDVS2, TEF2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602650 11254 ENSG00000121067
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Macrocephaly neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies N/A N/A GenCC
neoplasm Neoplasm N/A N/A ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease 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