SPEN Chromosome 1
Spen family transcriptional repressor
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What This Gene Does
This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
1p36.21-p36.13
Ensembl
ENSG00000065526
Associated Conditions (10)
Developmental disorder
Radio-Tartaglia syndrome
Inborn genetic diseases
SPEN-related disorder
See cases
Neurodevelopmental delay
Myoepithelial tumor
Neurodevelopmental abnormality
Autism spectrum disorder
Encephalopathy
Key Variants
RS1460194680
Conflicting classifications of pathogenicity
Developmental disorder, Radio-Tartaglia syndrome, Developmental disorder
Health Risk
RS148348676
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149173601
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150756182
Conflicting classifications of pathogenicity
SPEN-related disorder, SPEN-related disorder
Health Risk
RS199982380
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2071226510
Conflicting classifications of pathogenicity
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
Health Risk
RS2148737840
Conflicting classifications of pathogenicity
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
Health Risk
RS2148741011
Conflicting classifications of pathogenicity
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
Health Risk
RS368139168
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745655301
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751475729
Conflicting classifications of pathogenicity
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
Health Risk
RS752974887
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148741007 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2148741116 | Health Risk | Pathogenic | — |
| RS2148741262 | Health Risk | Pathogenic | — |
| RS2148741614 | Health Risk | Pathogenic | — |
| RS2148741741 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2148741876 | Health Risk | Pathogenic | — |
| RS2148741878 | Health Risk | Pathogenic | — |
| RS2148741888 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2148741907 | Health Risk | Pathogenic | — |
| RS2148741910 | Health Risk | Pathogenic | — |
| RS2148742008 | Health Risk | Pathogenic | — |
| RS2148746207 | Health Risk | Pathogenic | — |
| RS2522927850 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2523081142 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2523081439 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2523082174 | Health Risk | Pathogenic | Myoepithelial tumor, Myoepithelial tumor |
| RS2523084567 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2523085373 | Health Risk | Pathogenic | — |
| RS2523087999 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2523093503 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2523093746 | Health Risk | Pathogenic | — |
| RS746738922 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS752207572 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS755758948 | Health Risk | Pathogenic | — |
| RS764595221 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Radio-Tartaglia syndrome, Inborn genetic diseases |
| RS767964268 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS769218008 | Health Risk | Pathogenic | — |
| RS770680602 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS772105874 | Health Risk | Pathogenic | Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS972442854 | Health Risk | Pathogenic | — |
| RS2071243064 | Health Risk | Pathogenic/Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2148740878 | Health Risk | Pathogenic/Likely pathogenic | Radio-Tartaglia syndrome, Encephalopathy, Radio-Tartaglia syndrome |
| RS2523086867 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Radio-Tartaglia syndrome, Inborn genetic diseases |