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Aliases for SP4 Gene

Aliases for SP4 Gene

  • Sp4 Transcription Factor 2 3 5
  • SPR-1 3 4
  • Transcription Factor Sp4 3
  • HF1B 3

External Ids for SP4 Gene

Previous GeneCards Identifiers for SP4 Gene

  • GC07P021112
  • GC07P021177
  • GC07P021212
  • GC07P021240

Summaries for SP4 Gene

Entrez Gene Summary for SP4 Gene

  • The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]

GeneCards Summary for SP4 Gene

SP4 (Sp4 Transcription Factor) is a Protein Coding gene. Diseases associated with SP4 include Bipolar Disorder and Schizophrenia. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is SP1.

UniProtKB/Swiss-Prot for SP4 Gene

  • Binds to GT and GC boxes promoters elements. Probable transcriptional activator.

Gene Wiki entry for SP4 Gene

Additional gene information for SP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP4 Gene

Genomics for SP4 Gene

GeneHancer (GH) Regulatory Elements for SP4 Gene

Promoters and enhancers for SP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I021426 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.3 -0.3 -306 3.3 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 SP4 CDCA7L ENSG00000229949
GH07I021429 Enhancer 0.5 ENCODE 550.8 +2.0 1966 0.7 OSR2 SCRT1 ZNF341 SCRT2 ZNF600 ZBTB17 SP4 MIR1183
GH07I021352 Enhancer 1.4 FANTOM5 Ensembl ENCODE 17.5 -73.6 -73587 4.9 HDGF PKNOX1 SMAD1 IRF4 GATA2 ATF7 RUNX3 JUNB SMARCA4 NBN SP4 GC07M021324 RNU1-15P
GH07I021365 Enhancer 0.8 ENCODE 12.4 -61.6 -61559 1 ELF3 FOXA2 INSM2 FEZF1 RARA ZNF366 FOS ATF7 CEBPB TSHZ1 SP4 RNU1-15P GC07M021324
GH07I020513 Enhancer 0.8 ENCODE 10.9 -913.6 -913577 1 PKNOX1 SMAD1 NFIB INSM2 MZF1 FEZF1 ZNF213 ZNF366 ZSCAN5C ZNF350 RPL23P8 SP4 LOC101927811 EEF1A1P27 GC07P020414
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SP4 gene promoter:

Genomic Locations for SP4 Gene

Genomic Locations for SP4 Gene
chr7:21,428,034-21,514,822
(GRCh38/hg38)
Size:
86,789 bases
Orientation:
Plus strand
chr7:21,467,652-21,554,440
(GRCh37/hg19)

Genomic View for SP4 Gene

Genes around SP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP4 Gene

Proteins for SP4 Gene

  • Protein details for SP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02446-SP4_HUMAN
    Recommended name:
    Transcription factor Sp4
    Protein Accession:
    Q02446
    Secondary Accessions:
    • O60402
    • Q32M52

    Protein attributes for SP4 Gene

    Size:
    784 amino acids
    Molecular mass:
    81985 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SP4 Gene

Post-translational modifications for SP4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SP4 Gene

Domains & Families for SP4 Gene

Gene Families for SP4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SP4 Gene

Suggested Antigen Peptide Sequences for SP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q02446

UniProtKB/Swiss-Prot:

SP4_HUMAN :
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
Family:
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with SP4: view

Function for SP4 Gene

Molecular function for SP4 Gene

GENATLAS Biochemistry:
transcription factor SP4,GT box binding protein
UniProtKB/Swiss-Prot Function:
Binds to GT and GC boxes promoters elements. Probable transcriptional activator.

Phenotypes From GWAS Catalog for SP4 Gene

Gene Ontology (GO) - Molecular Function for SP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IC --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity TAS,IEA --
genes like me logo Genes that share ontologies with SP4: view
genes like me logo Genes that share phenotypes with SP4: view

Animal Models for SP4 Gene

MGI Knock Outs for SP4:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SP4 Gene

Localization for SP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP4 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SP4 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SP4: view

Pathways & Interactions for SP4 Gene

SuperPathway Contained pathways
1 Mesodermal Commitment Pathway
genes like me logo Genes that share pathways with SP4: view

Pathways by source for SP4 Gene

1 BioSystems pathway for SP4 Gene

Gene Ontology (GO) - Biological Process for SP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IDA 12560508
genes like me logo Genes that share ontologies with SP4: view

No data available for SIGNOR curated interactions for SP4 Gene

Drugs & Compounds for SP4 Gene

(1) Drugs for SP4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SP4: view

Transcripts for SP4 Gene

Unigene Clusters for SP4 Gene

Sp4 transcription factor:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SP4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5
SP1:
SP2: -

Relevant External Links for SP4 Gene

GeneLoc Exon Structure for
SP4
ECgene alternative splicing isoforms for
SP4

Expression for SP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SP4 Gene

This gene is overexpressed in CD8 Tcells (26.7), CD4 Tcells (21.7), Spleen (7.9), and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SP4 Gene



Protein tissue co-expression partners for SP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SP4 Gene:

SP4

SOURCE GeneReport for Unigene cluster for SP4 Gene:

Hs.88013

mRNA Expression by UniProt/SwissProt for SP4 Gene:

Q02446-SP4_HUMAN
Tissue specificity: Abundant in brain.

Evidence on tissue expression from TISSUES for SP4 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SP4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SP4 Gene

Orthologs for SP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SP4 33 34
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia SP4 33 34
  • 96.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SP4 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SP4 33 34
  • 95.19 (n)
rat
(Rattus norvegicus)
Mammalia Sp4 33
  • 92.84 (n)
mouse
(Mus musculus)
Mammalia Sp4 33 16 34
  • 92.46 (n)
oppossum
(Monodelphis domestica)
Mammalia SP4 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SP4 33 34
  • 83.01 (n)
lizard
(Anolis carolinensis)
Reptilia SP4 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sp4 33
  • 76.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68827 33
zebrafish
(Danio rerio)
Actinopterygii sp4 33 34
  • 62.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta EP2237 35
  • 67 (a)
CG5669 35
  • 62 (a)
btd 35
  • 57 (a)
CG3065 35
  • 57 (a)
Spps 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y40B1A.4 35
  • 68 (a)
T22C8.5 35
  • 53 (a)
sptf-3 34
  • 34 (a)
OneToMany
Species where no ortholog for SP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SP4 Gene

ENSEMBL:
Gene Tree for SP4 (if available)
TreeFam:
Gene Tree for SP4 (if available)

Paralogs for SP4 Gene

Paralogs for SP4 Gene

genes like me logo Genes that share paralogs with SP4: view

Variants for SP4 Gene

Sequence variations from dbSNP and Humsavar for SP4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs869025250 uncertain-significance, Monoclonal B-Cell Lymphocytosis 21,482,084(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs1000034310 -- 21,496,521(+) C/A genic_downstream_transcript_variant, intron_variant
rs1000040570 -- 21,439,413(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000088740 -- 21,502,196(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000093762 -- 21,491,787(+) A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SP4 Gene

Variant ID Type Subtype PubMed ID
dgv6305n100 CNV gain 25217958
esv2734112 CNV deletion 23290073
esv2734113 CNV deletion 23290073
esv3571692 CNV loss 25503493
esv3612505 CNV loss 21293372
nsv1074078 CNV deletion 25765185
nsv1144167 CNV deletion 24896259
nsv524775 CNV loss 19592680
nsv830921 CNV gain 17160897

Variation tolerance for SP4 Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SP4 Gene

Human Gene Mutation Database (HGMD)
SP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP4 Gene

Disorders for SP4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SP4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bipolar disorder
  • major affective disorder 1
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search SP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SP4 Gene

Publications for SP4 Gene

  1. Transcription factor SP4 is a susceptibility gene for bipolar disorder. (PMID: 19401786) Zhou X … Kelsoe JR (PloS one 2009) 3 22 44 58
  2. Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. (PMID: 17356515) Gao YQ … Farber DB (Molecular vision 2007) 3 22 44 58
  3. Cloning by recognition site screening of two novel GT box binding proteins: a family of Sp1 related genes. (PMID: 1454515) Hagen G … Suske G (Nucleic acids research 1992) 2 3 4 58
  4. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J … Levinson DF (Molecular psychiatry 2011) 3 44 58
  5. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PMID: 20038947) Shyn SI … Hamilton SP (Molecular psychiatry 2011) 3 44 58

Products for SP4 Gene

Sources for SP4 Gene

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