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Aliases for SPEN Gene

Aliases for SPEN Gene

  • Spen Family Transcriptional Repressor 2 3
  • SMART/HDAC1-Associated Repressor Protein 3 4
  • SHARP 3 4
  • MINT 3 4
  • SPEN Homolog, Transcriptional Regulator (Drosophila) 2
  • Msx2 Interacting Nuclear Target (MINT) Homolog 3
  • SMART/HDAC1 Associated Repressor Protein 3
  • Nuclear Receptor Transcription Cofactor 3
  • Spen Homolog, Transcriptional Regulator 3
  • SPEN Homolog 4
  • HIAA0929 3
  • KIAA0929 4
  • RBM15C 3

External Ids for SPEN Gene

Previous GeneCards Identifiers for SPEN Gene

  • GC01P015920
  • GC01P016047
  • GC01P016174
  • GC01P014692

Summaries for SPEN Gene

Entrez Gene Summary 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 pancreatic cystadenoma. Among its related pathways are Notch-mediated HES/HEY network and Notch Signaling Pathways. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is RBM15.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for SPEN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPEN Gene

Genomics for SPEN Gene

Regulatory Elements for SPEN Gene

Genomic Location for SPEN Gene

Chromosome:
1
Start:
15,847,864 bp from pter
End:
15,940,460 bp from pter
Size:
92,597 bases
Orientation:
Plus strand

Genomic View for SPEN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPEN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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. Interacts with Epstein-Barr virus BSFL2/BMLF1.
    SequenceCaution:
    • Sequence=BAA91405.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14324.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB51072.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPEN Gene

neXtProt entry for SPEN Gene

Proteomics data for SPEN Gene at MOPED

Post-translational modifications for SPEN Gene

  • Ubiquitination at Lys 1293, Lys 1308, Lys 1361, Lys 1430, Lys 1445, Lys 1864, Lys 2617, Lys 2680, Lys 2967, and Lys 2971
  • Modification sites at PhosphoSitePlus

Other Protein References for SPEN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPEN Gene

Domains & Families for SPEN Gene

Gene Families for SPEN Gene

Suggested Antigen Peptide Sequences for SPEN Gene

Graphical View of Domain Structure for InterPro Entry

Q96T58

UniProtKB/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
  • Contains 1 RID (receptor interacting) domain.
  • Contains 4 RRM (RNA recognition motif) domains.
  • Contains 1 SPOC domain.
Family:
  • Belongs to the RRM Spen family.
genes like me logo Genes that share domains with SPEN: view

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.

Gene Ontology (GO) - Molecular Function for SPEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001085 RNA polymerase II transcription factor binding IPI 16287852
GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding IDA 16287852
GO:0003676 nucleic acid binding --
GO:0003697 single-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with SPEN: view
genes like me logo Genes that share phenotypes with SPEN: view

Animal Models for SPEN Gene

MGI Knock Outs for SPEN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPEN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPEN Gene COMPARTMENTS Subcellular localization image for SPEN gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SPEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0017053 transcriptional repressor complex IDA 16287852
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SPEN: view

Pathways & Interactions for SPEN Gene

genes like me logo Genes that share pathways with SPEN: view

Pathways by source for SPEN Gene

1 R&D Systems pathway for SPEN Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for SPEN Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SPEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 16287852
GO:0000398 mRNA splicing, via spliceosome IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with SPEN: view

Drugs & Compounds for SPEN Gene

(1) Additional Compounds for SPEN Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Retinoid
genes like me logo Genes that share compounds with SPEN: view

Transcripts for SPEN Gene

Unigene Clusters for SPEN Gene

Spen homolog, transcriptional regulator (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPEN

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPEN Gene

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
ECgene alternative splicing isoforms for
SPEN

Expression for SPEN Gene

mRNA expression in normal human tissues for SPEN Gene

Protein differential expression in normal tissues from HIPED 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, PaxDb, MOPED, and MaxQB for SPEN Gene



SOURCE GeneReport for Unigene cluster for SPEN Gene Hs.744843

mRNA 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
genes like me logo Genes that share expression patterns with SPEN: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for SPEN Gene

Orthologs for SPEN Gene

This gene was present in the common ancestor of animals.

Orthologs for SPEN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPEN 35
  • 87.41 (n)
  • 88.53 (a)
SPEN 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPEN 35
  • 86.6 (n)
  • 88.25 (a)
SPEN 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spen 35
  • 81.01 (n)
  • 82.46 (a)
Spen 16
Spen 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPEN 35
  • 99.15 (n)
  • 98.87 (a)
SPEN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690911 35
  • 80.88 (n)
  • 82.3 (a)
oppossum
(Monodelphis domestica)
Mammalia SPEN 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPEN 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPEN 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPEN 36
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii -- 35
spen 36
  • 47 (a)
OneToMany
SPEN (2 of 2) 36
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta spen 36
  • 10 (a)
OneToOne
Species with no ortholog for SPEN:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SPEN Gene

Paralogs for SPEN Gene

(1) SIMAP similar genes for SPEN Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SPEN: view

Variants for SPEN Gene

Sequence variations from dbSNP and Humsavar for SPEN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs12354112 -- 15,862,828(+) gcaat(C/T)tcagc intron-variant
rs12142732 -- 15,902,589(+) aaggt(C/T)gtttg intron-variant
rs12142566 -- 15,923,435(+) CCCCT(A/G)TATGT intron-variant
rs12139673 -- 15,915,489(+) gtccc(A/C)aaaaC intron-variant
rs12138490 -- 15,895,868(+) tatta(A/G)agttg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPEN Gene

Variant ID Type Subtype PubMed ID
nsv870503 CNV Loss 21882294
nsv833647 CNV Loss 17160897
nsv871162 CNV Gain 21882294
nsv3409 CNV Loss 18451855
esv2668319 CNV Deletion 23128226
esv2744352 CNV Deletion 23290073
nsv829559 CNV Loss 20364138
esv2665696 CNV Deletion 23128226
esv22591 CNV Gain 19812545
nsv508936 CNV Insertion 20534489
dgv174n71 CNV Loss 21882294

Variation tolerance for SPEN Gene

Residual Variation Intolerance Score: .43% 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)

Relevant External Links for SPEN Gene

HapMap Linkage Disequilibrium report
SPEN
Human Gene Mutation Database (HGMD)
SPEN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPEN Gene

Disorders for SPEN Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPEN Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreatic cystadenoma
  • cystadenoma of pancreas
- elite association
Search SPEN in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPEN

Genetic Association Database (GAD)
SPEN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPEN
genes like me logo Genes that share disorders with SPEN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPEN Gene

Publications for SPEN Gene

  1. Sharp, an inducible cofactor that integrates nuclear receptor repression and activation. (PMID: 11331609) Shi Y. … Evans R.M. (Genes Dev. 2001) 2 23 67
  2. 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 E.R. (Cancer Res. 2007) 23 67
  3. Msx2-interacting nuclear target protein (Mint) deficiency reveals negative regulation of early thymocyte differentiation by Notch/RBP-J signaling. (PMID: 17242367) Tsuji M. … Honjo T. (Proc. Natl. Acad. Sci. U.S.A. 2007) 23 67
  4. Generation of a conditional knockout allele for mammalian Spen protein Mint/SHARP. (PMID: 17457934) Yabe D. … Honjo T. (Genesis 2007) 23 67
  5. The Spen homolog Msx2-interacting nuclear target protein interacts with the E2 ubiquitin-conjugating enzyme UbcH8. (PMID: 16583136) Li J. … Han H. (Mol. Cell. Biochem. 2006) 23 67

Products for SPEN Gene

Sources for SPEN Gene

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