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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]
SPEN (Spen Family Transcriptional Repressor) is a Protein Coding gene. Diseases associated with SPEN include Breast Liposarcoma and Wolfram Syndrome 2. Among its related pathways are Notch Signaling Pathway (WikiPathways) and Notch-mediated HES/HEY network. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is RBM15.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001085 | RNA polymerase II transcription factor binding | IPI | 16287852 |
GO:0003676 | nucleic acid binding | IEA,IBA | 21873635 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003714 | transcription corepressor activity | IDA | 16287852 |
GO:0003723 | RNA binding | IEA,HDA | 22658674 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0017053 | transcriptional repressor complex | IDA | 16287852 |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Notch-mediated HES/HEY network |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 16287852 |
GO:0000398 | mRNA splicing, via spliceosome | IBA | 21873635 |
GO:0007219 | Notch signaling pathway | IEA | -- |
GO:0016032 | viral process | IEA | -- |
GO:0045892 | negative regulation of transcription, DNA-templated | IDA | 16129689 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPEN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPEN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPEN 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPEN 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Spen 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC690911 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SPEN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SPEN 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SPEN 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | spen 31 |
|
OneToMany | |
SPEN (2 of 2) 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | spen 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716796 | Benign: not provided | 15,920,891(+) | G/A | MISSENSE_VARIANT | |
717467 | Benign: not provided | 15,937,958(+) | G/A | SYNONYMOUS_VARIANT | |
744144 | Likely Benign: not provided | 15,909,347(+) | A/G | MISSENSE_VARIANT | |
747910 | Likely Benign: not provided | 15,938,870(+) | C/T | SYNONYMOUS_VARIANT | |
777885 | Benign: not provided | 15,931,150(+) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv37n100 | CNV | gain | 25217958 |
dgv38n100 | CNV | gain | 25217958 |
esv22591 | CNV | gain | 19812545 |
esv2665696 | CNV | deletion | 23128226 |
esv2668319 | CNV | deletion | 23128226 |
esv2744352 | CNV | deletion | 23290073 |
esv2764241 | CNV | loss | 21179565 |
esv3585322 | CNV | loss | 21293372 |
nsv1011969 | CNV | gain+loss | 25217958 |
nsv1012917 | CNV | loss | 25217958 |
nsv1133814 | CNV | deletion | 24896259 |
nsv3409 | CNV | deletion | 18451855 |
nsv478397 | CNV | novel sequence insertion | 20440878 |
nsv508936 | CNV | insertion | 20534489 |
nsv829559 | CNV | loss | 20364138 |
nsv833647 | CNV | loss | 17160897 |
nsv954843 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
breast liposarcoma |
|
|
wolfram syndrome 2 |
|
|
breast cancer |
|
|
brain cancer |
|
|