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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 ... See more...
Aliases for SPEN Gene
Aliases for SPEN Gene
External Ids for SPEN Gene
- HGNC: 17575
- Entrez Gene: 23013
- Ensembl: ENSG00000065526
- OMIM: 613484
- UniProtKB: Q96T58
Previous GeneCards Identifiers for SPEN Gene
- GC01P015920
- GC01P016047
- GC01P016174
- GC01P014692
Summaries for SPEN Gene
-
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]
GeneCards Summary for SPEN Gene
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.
UniProtKB/Swiss-Prot Summary for SPEN Gene
-
May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. May bind both to DNA and RNA.
Additional gene information for SPEN Gene
- HGNC(17575)
- Entrez Gene(23013)
- Ensembl(ENSG00000065526)
- OMIM(613484)
- UniProtKB(Q96T58)
- Open Targets Platform(ENSG00000065526)
- Search for SPEN at DataMed
- Search for SPEN at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPEN Gene
Genomics for SPEN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SPEN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SPEN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPEN
- Top Transcription factor binding sites by QIAGEN in the SPEN gene promoter:
-
- aMEF-2
- HNF-1
- HNF-1A
- HSF2
- MEF-2A
- p53
- Pax-4a
- Pax-5
- ZIC2
Genomic Locations for SPEN Gene
Genomic Locations for SPEN Gene
- chr1:15,836,095-15,940,456
- (GRCh38/hg38)
- Size:
- 104,362 bases
- Orientation:
- Plus strand
- chr1:16,174,359-16,266,955
- (GRCh37/hg19)
- Size:
- 92,597 bases
- Orientation:
- Plus strand
Genomic View for SPEN Gene
Genes around SPEN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.21-p36.13 by HGNC
- 1p36.21-p36.13 by Entrez Gene
- 1p36.21 by Ensembl
SPEN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SPEN Gene
Proteins for SPEN Gene
-
Protein details for SPEN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96T58-MINT_HUMAN
- Recommended name:
- Msx2-interacting protein
- Protein Accession:
- Q96T58
- Q9H9A8
- Q9NWH5
- Q9UQ01
- Q9Y556
Protein attributes for SPEN Gene
- Size:
- 3664 amino acids
- Molecular mass:
- 402248 Da
- Quaternary structure:
-
- Interacts with MSX2 and HIPK3 (By similarity). Interacts with NCOR2, HDAC1, HDAC2, RBBP4, MBD3 and MTA1L1. Interacts with RBPSUH; this interaction may prevent the interaction between RBPSUH and NOTCH1. Interacts with the nuclear receptors RAR and PPARD. Interacts with RAR in absence of ligand. Binds to the steroid receptor RNA coactivator SRA.
- (Microbial infection) Interacts with Epstein-Barr virus BSFL2/BMLF1.
- SequenceCaution:
-
- Sequence=BAA91405.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14324.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB51072.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for SPEN Gene
Post-translational modifications for SPEN Gene
Other Protein References for SPEN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SPEN
-
Abcam antibodies for SPEN
- Invitrogen Antibodies for SPEN (AFLGC-SPEN)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPEN
- Origene Custom Protein Services for SPEN
- Novus Biologicals proteins for SPEN
- antibodies-online: Search results for available SPEN related products ranked by validation data
-
Abcam proteins for SPEN
No data available for DME Specific Peptides for SPEN Gene
Domains & Families for SPEN Gene
Gene Families for SPEN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SPEN Gene
- InterPro:
- Blocks:
-
- RNA-binding region RNP-1 (RNA recognition motif)
- SPOC
- ProtoNet:
Suggested Antigen Peptide Sequences for SPEN Gene
- GenScript: Design optimal peptide antigens:
-
- SPEN homolog (MINT_HUMAN)
- Spen homolog, transcriptional regulator (Drosophila) (Q5VVE2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96T58UniProtKB/Swiss-Prot:
MINT_HUMAN :- The RID domain mediates the interaction with nuclear receptors.
- Belongs to the RRM Spen family.
- Domain:
-
- The RID domain mediates the interaction with nuclear receptors.
- The SPOC domain, which mediates the interaction with NCOR2, is essential for the repressive activity.
- Family:
-
- Belongs to the RRM Spen family.
Function for SPEN Gene
Molecular function for SPEN Gene
- UniProtKB/Swiss-Prot Function:
- May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. May bind both to DNA and RNA.
- UniProtKB/Swiss-Prot Induction:
- By 17-beta-estradiol.
Phenotypes From GWAS Catalog for SPEN Gene
| 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 |
Phenotypes for SPEN Gene
- MGI mutant phenotypes for SPEN:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SPEN:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPEN - Select products 50% OFF >
- * SPEN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SPEN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPEN
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPEN
miRNA for SPEN Gene
- miRTarBase miRNAs that target SPEN
-
- mmu-miR-362-5p (MIRT008956)
- hsa-miR-151a-5p (MIRT019521)
- hsa-miR-877-3p (MIRT037187)
- hsa-miR-23b-5p (MIRT038656)
- hsa-miR-769-5p (MIRT039166)
- hsa-miR-615-3p (MIRT039949)
- hsa-miR-193b-3p (MIRT041415)
- hsa-miR-423-3p (MIRT042502)
- hsa-miR-324-5p (MIRT043099)
- hsa-miR-331-3p (MIRT043465)
- hsa-miR-328-3p (MIRT043756)
- hsa-miR-106b-5p (MIRT044364)
- hsa-miR-320a (MIRT044789)
- hsa-miR-186-5p (MIRT045089)
- hsa-miR-125b-5p (MIRT046031)
- hsa-miR-196a-5p (MIRT048159)
- hsa-miR-92a-3p (MIRT049048)
- hsa-miR-16-5p (MIRT051293)
- mmu-miR-129-5p (MIRT593658)
- mmu-miR-450b-5p (MIRT593659)
- mmu-miR-107-3p (MIRT593660)
- mmu-miR-103-3p (MIRT593661)
- mmu-miR-1906 (MIRT593662)
- hsa-miR-18a-5p (MIRT738300)
- hsa-miR-18b-5p (MIRT738304)
- hsa-miR-214-3p (MIRT739004)
- hsa-miR-3619-5p (MIRT741728)
- hsa-miR-4722-5p (MIRT747627)
- hsa-miR-4735-3p (MIRT747985)
- hsa-miR-4768-3p (MIRT748636)
- hsa-miR-6165 (MIRT752521)
- hsa-miR-761 (MIRT759479)
- hsa-miR-885-3p (MIRT760394)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPEN
- Browse OriGene Inhibitory RNA Products For SPEN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPEN
Clone Products
- Applied Biological Materials (abm): Clones for SPEN - Select products 50% OFF >
- * SPEN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPEN
Cell Line Products
-
Horizon Cell Lines for SPEN
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPEN Gene
Localization for SPEN Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPEN Gene
- Nucleus. Note=Associates with chromatin.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
| 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 |
Pathways & Interactions for SPEN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch Signaling Pathway (WikiPathways) | ||
| 2 | Notch-mediated HES/HEY network | ||
Pathways by source for SPEN Gene
3 BioSystems pathways for SPEN Gene
1 R&D Systems pathway for SPEN Gene
Interacting Proteins for SPEN Gene
Selected Interacting proteins:
Q96T58-MINT_HUMAN
ENSP00000364912
for SPEN Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SPEN
SIGNOR curated interactions for SPEN Gene
| 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 |
Transcripts for SPEN Gene
mRNA/cDNA for SPEN Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000375759 12385 nts (view in UCSC)
- ENST00000438066 1733 nts (view in UCSC)
- ENST00000442985 891 nts (view in UCSC)
- ENST00000471538 1404 nts (view in UCSC)
- ENST00000487496 543 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPEN - Select products 50% OFF >
- * SPEN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SPEN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPEN
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPEN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPEN
- Browse OriGene Inhibitory RNA Products For SPEN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPEN
Clone Products
- Applied Biological Materials (abm): Clones for SPEN - Select products 50% OFF >
- * SPEN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPEN
| 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: |
Relevant External Links for SPEN Gene
- GeneLoc Exon Structure for
- SPEN
Expression for SPEN Gene
This gene is overexpressed in Urinary Bladder (30.7), Gallbladder (10.7), and Cervix (8.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPEN Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPEN
SOURCE GeneReport for Unigene cluster for SPEN Gene:
Hs.744843mRNA Expression by UniProt/SwissProt for SPEN Gene:
Q96T58-MINT_HUMAN
Tissue specificity:
Expressed at high level in brain, testis, spleen and thymus. Expressed at intermediate level in kidney, liver, mammary gland and skin.
Evidence on tissue expression from TISSUES for SPEN Gene
- Nervous system(4.7)
- Liver(4.5)
- Skin(3.1)
- Blood(2.9)
- Intestine(2.7)
- Muscle(2.7)
- Heart(2.7)
- Kidney(2.6)
- Spleen(2.5)
- Lung(2.3)
- Lymph node(2.2)
- Bone marrow(2.2)
- Thyroid gland(2.1)
- Pancreas(2.1)
Primer Products
-
OriGene qPCR primer pairs for SPEN
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPEN Gene
Orthologs for SPEN Gene
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 |
- Species where no ortholog for SPEN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for SPEN Gene
- ENSEMBL:
- Gene Tree for SPEN (if available)
- TreeFam:
- Gene Tree for SPEN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SPEN: view image
Paralogs for SPEN Gene
Variants for SPEN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPEN Gene
| 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 |
Residual Variation Intolerance Score:
0.428% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.96;
79.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPEN Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPEN Gene
Disorders for SPEN Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| breast liposarcoma |
|
|
| wolfram syndrome 2 |
|
|
| breast cancer |
|
|
| brain cancer |
|
|
Search SPEN in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SPEN
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SPEN Gene
Publications for SPEN Gene
- Sharp, an inducible cofactor that integrates nuclear receptor repression and activation. (PMID: 11331609) Shi Y … Evans RM (Genes & development 2001) 2 3 4 23
- Interaction of the Epstein-Barr virus mRNA export factor EB2 with human Spen proteins SHARP, OTT1, and a novel member of the family, OTT3, links Spen proteins with splicing regulation and mRNA export. (PMID: 16129689) Hiriart E … Manet E (The Journal of biological chemistry 2005) 3 4 23
- A conserved structural motif reveals the essential transcriptional repression function of Spen proteins and their role in developmental signaling. (PMID: 12897056) Ariyoshi M … Schwabe JW (Genes & development 2003) 3 4 23
- The peroxisome proliferator-activated receptor delta, an integrator of transcriptional repression and nuclear receptor signaling. (PMID: 11867749) Shi Y … Evans RM (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 23
- Drosophila split ends homologue SHARP functions as a positive regulator of Wnt/beta-catenin/T-cell factor signaling in neoplastic transformation. (PMID: 17234755) Feng Y … Fearon ER (Cancer research 2007) 3 23
ExternalLinks
Products for SPEN Gene
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- Browse OriGene Inhibitory RNA Products For SPEN
- OriGene qPCR primer pairs for SPEN
- OriGene CRISPR knockouts for SPEN
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SPEN
- Novus Biologicals proteins for SPEN
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- Abcam proteins for SPEN
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- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SPEN (AFLGC-SPEN)
- VectorBuilder Custom and pre-made DNA vectors for SPEN (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SPEN (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SPEN (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SPEN CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SPEN
- antibodies-online: Show 11 available SPEN Antibodies ranked by validation data
- Compare Top SPEN Antibodies
- antibodies-online: Search results for available SPEN related products ranked by validation data
- antibodies-online: Search results for available SPEN related products ranked by validation data
- Horizon Cell Lines for SPEN
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPEN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPEN
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SPEN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPEN
Sources for SPEN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB