SPOP Chromosome 17
Speckle type BTB/POZ protein
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What This Gene Does
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 binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BTB domain containing
Locus Type
gene with protein product
Location
17q21.33
Ensembl
ENSG00000121067
Associated Conditions (9)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Prostate cancer
Neoplasm
Neurodevelopmental disorder with microcephaly and dysmorphic facies
SPOP-related disorder
Squamous cell carcinoma of the head and neck
Nabais Sa-de Vries syndrome
Inborn genetic diseases
SPOP-related neurodevelopmental condition
Key Variants
RS1313171285
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Health Risk
RS193920894
Conflicting classifications of pathogenicity
Prostate cancer, Neoplasm, Prostate cancer
Health Risk
RS2072151207
Conflicting classifications of pathogenicity
Prostate cancer, Neurodevelopmental disorder with microcephaly and dysmorphic facies, Prostate cancer
Health Risk
RS2072244773
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, SPOP-related disorder, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Health Risk
RS544086490
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Health Risk
RS866898949
Conflicting classifications of pathogenicity
Prostate cancer, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Prostate cancer
Health Risk
RS2072155694
Likely pathogenic
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Health Risk
RS2072168176
Likely pathogenic
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Health Risk
RS2143268856
Likely pathogenic
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Health Risk
RS2143269972
Likely pathogenic
Neurodevelopmental disorder with microcephaly and dysmorphic facies, Neurodevelopmental disorder with microcephaly and dysmorphic facies
Health Risk
RS2143272293
Likely pathogenic
Health Risk
RS2143295744
Likely pathogenic
SPOP-related disorder, Squamous cell carcinoma of the head and neck, SPOP-related disorder
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1313171285 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS193920894 | Health Risk | Conflicting classifications of pathogenicity | Prostate cancer, Neoplasm, Prostate cancer |
| RS2072151207 | Health Risk | Conflicting classifications of pathogenicity | Prostate cancer, Neurodevelopmental disorder with microcephaly and dysmorphic facies, Prostate cancer |
| RS2072244773 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, SPOP-related disorder, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS544086490 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS866898949 | Health Risk | Conflicting classifications of pathogenicity | Prostate cancer, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Prostate cancer |
| RS2072155694 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS2072168176 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS2143268856 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS2143269972 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly and dysmorphic facies, Neurodevelopmental disorder with microcephaly and dysmorphic facies |
| RS2143272293 | Health Risk | Likely pathogenic | — |
| RS2143295744 | Health Risk | Likely pathogenic | SPOP-related disorder, Squamous cell carcinoma of the head and neck, SPOP-related disorder |
| RS2543841231 | Health Risk | Likely pathogenic | Nabais Sa-de Vries syndrome, Nabais Sa-de Vries syndrome |
| RS2072153488 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with microcephaly and dysmorphic facies, Neurodevelopmental disorder with microcephaly and dysmorphic facies |
| RS2072157379 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with microcephaly and dysmorphic facies, Inborn genetic diseases, Neurodevelopmental disorder with microcephaly and dysmorphic facies |
| RS2143273650 | Health Risk | Pathogenic/Likely pathogenic | SPOP-related neurodevelopmental condition, SPOP-related neurodevelopmental condition |
| RS968974699 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |