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 ... See more...

Aliases for SP4 Gene

Aliases for SP4 Gene

  • Sp4 Transcription Factor 2 3 5
  • Transcription Factor Sp4 3 4
  • SPR-1 3 4
  • 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 Digenic Disease and Bipolar Disorder. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is SP1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH07J021426 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 756.2 +1.3 1296 6.5 SP1 ZBTB40 SIX5 ZBTB6 RBPJ POLR2A HDAC2 ATF1 CREB1 HCFC1 SP4 lnc-CDCA7L-2 MIR1183 CDCA7L piR-53063-229
GH07J021352 Enhancer 1.1 FANTOM5 ENCODE 17.5 -73.6 -73596 4.9 ZNF24 SP1 SMARCE1 MYC ETV6 RELA TEAD4 MLLT1 ZNF687 SMARCA4 SP4 piR-60885-148 RF00003-087 RNU1-15P
GH07J021365 Enhancer 1 Ensembl ENCODE 12.4 -61.6 -61588 2.1 ZBTB40 RBPJ SMARCE1 ZNF121 TEAD4 BCL6B RERE ELF3 MAFK CBFA2T2 SP4 RNU1-15P RF00003-087 piR-60885-148
GH07J021261 Enhancer 0.9 Ensembl ENCODE 11.9 -166.2 -166242 2 CTCF CTBP1 MAX RAD21 POU5F1 SP1 ZNF384 IKZF1 PKNOX1 REST FJ601678-077 SP4 SP8 piR-43105-592 RF00017-6069
GH07J021364 Enhancer 0.7 Ensembl 12.4 -63.2 -63242 0.8 TCF7L2 JUND CREM ZBED1 IKZF1 IKZF2 ZNF7 EED RUNX3 BCLAF1 SP4 RF00003-087 RNU1-15P piR-60885-148
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SP4 gene promoter:
  • IRF-7A
  • MyoD
  • NF-1
  • NF-1/L
  • Nkx2-5
  • S8
  • STAT3

Genomic Locations for SP4 Gene

Genomic Locations for SP4 Gene
chr7:21,428,043-21,514,822
(GRCh38/hg38)
Size:
86,780 bases
Orientation:
Plus strand
chr7:21,467,652-21,554,440
(GRCh37/hg19)
Size:
86,789 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SP4 Gene

Domains & Families for SP4 Gene

Gene Families for SP4 Gene

Protein Domains for SP4 Gene

Suggested Antigen Peptide Sequences for SP4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57388, moderately similar to Transcription factor Sp4 (B4DKX0_HUMAN)
  • SP4 protein (Q32M51_HUMAN)
  • SPR-1 (SP4_HUMAN)

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

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

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 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity 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:
  • Sp4 Sp4<tm1Krc>
  • Sp4 Sp4<tm2.1Krc>
  • Sp4 Sp4<tm1Sus>
  • Sp4 Sp4<tm1Ssp>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for SP4

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 4
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,IEA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SP4: view

Pathways & Interactions for SP4 Gene

PathCards logo

SuperPathways 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

SIGNOR curated interactions for SP4 Gene

Activates:

Gene Ontology (GO) - Biological Process for SP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA,IDA 12560508
GO:1903508 positive regulation of nucleic acid-templated transcription IEA --
genes like me logo Genes that share ontologies with SP4: view

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

mRNA/cDNA for SP4 Gene

(3) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SP4

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, 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 32
  • 99.87 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SP4 33 32
  • 96.51 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SP4 33
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SP4 33 32
  • 95.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sp4 32
  • 92.84 (n)
mouse
(Mus musculus)
Mammalia Sp4 17 33 32
  • 92.46 (n)
oppossum
(Monodelphis domestica)
Mammalia SP4 33
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SP4 33 32
  • 83.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SP4 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sp4 32
  • 76.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68827 32
zebrafish
(Danio rerio)
Actinopterygii sp4 33 32 32
  • 62.22 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EP2237 34
  • 67 (a)
CG5669 34
  • 62 (a)
btd 34
  • 57 (a)
CG3065 34
  • 57 (a)
Spps 33
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y40B1A.4 34
  • 68 (a)
T22C8.5 34
  • 53 (a)
sptf-3 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SP4: view image

Paralogs for SP4 Gene

Paralogs for SP4 Gene

(25) SIMAP similar genes for SP4 Gene using alignment to 5 proteins:

  • SP4_HUMAN
  • C9JUS7_HUMAN
  • F8WB93_HUMAN
  • L0R552_HUMAN
  • Q32M51_HUMAN
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/T 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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SP4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SP4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
digenic disease
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 23 43 56
  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 23 43 56
  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 56
  4. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J … Levinson DF (Molecular psychiatry 2011) 3 43 56
  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 43 56

Products for SP4 Gene

Sources for SP4 Gene