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Aliases for SP6 Gene

Aliases for SP6 Gene

  • Sp6 Transcription Factor 2 3 5
  • Krueppel-Like Factor 14 3 4
  • Epiprofin 2 3
  • KLF14 3 4
  • Transcription Factor Sp6 3
  • Kruppel-Like Factor 14 3
  • EPFN 3

External Ids for SP6 Gene

Previous GeneCards Identifiers for SP6 Gene

  • GC17U990229
  • GC17M046396
  • GC17M043277
  • GC17M045922
  • GC17M041291

Summaries for SP6 Gene

Entrez Gene Summary for SP6 Gene

  • SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SP6 Gene

SP6 (Sp6 Transcription Factor) is a Protein Coding gene. Diseases associated with SP6 include Hermansky-Pudlak Syndrome 6 and Bladder Neck Obstruction. An important paralog of this gene is SP8.

UniProtKB/Swiss-Prot for SP6 Gene

  • Promotes cell proliferation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP6 Gene

Genomics for SP6 Gene

Regulatory Elements for SP6 Gene

Enhancers for SP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F048099 1.1 ENCODE 12.6 -225.3 -225304 4.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 CBX5 SNX11 MRPL45P2 CDK5RAP3 SP6 ENSG00000230532 ENSG00000264701 COPZ2 ENSG00000266601 HOXB5 SUMO2P17
GH17F048023 1.8 FANTOM5 Ensembl ENCODE 6.2 -149.1 -149133 4.6 CREB3L1 ZFP64 FEZF1 DMAP1 ZNF143 ZNF548 SP3 NFYC TBX21 MEF2D ENSG00000266601 MRPL45P2 RPS2P47 KPNB1 SNX11 CDK5RAP3 COPZ2 ITGB3 SKAP1 PRR15L
GH17F047136 0.8 ENCODE 12.6 +739.3 739330 1.3 TBP CBX3 SUZ12 JUN GTF3C2 ZNF121 E2F1 ZNF664 POLR2A POLR3A MRPL45P2 RPS7P11 ARL17B KANSL1 SP6 ENSG00000253347 ENSG00000264701 ENSG00000266601 CDC27 PIR31926
GH17F048538 2 VISTA FANTOM5 Ensembl ENCODE 4.6 -697.0 -696976 68.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A FEZF1 ZNF2 YY1 ZNF143 HOXB2 SKAP1 RN7SL125P GIP LOC105371815 ENSG00000251461 ENSG00000264243 LINC02075 HOXB9 HOXB3
GH17F047944 1.2 Ensembl ENCODE 5.9 -69.8 -69770 3.5 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS ZNF202 MRPL45P2 PRR15L SP2 ENSG00000264701 PNPO SCRN2 SNX11 CBX1 NFE2L1 SP6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SP6 Gene

Chromosome:
17
Start:
47,844,908 bp from pter
End:
47,876,190 bp from pter
Size:
31,283 bases
Orientation:
Minus strand

Genomic View for SP6 Gene

Genes around SP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP6 Gene

Proteins for SP6 Gene

  • Protein details for SP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SY56-SP6_HUMAN
    Recommended name:
    Transcription factor Sp6
    Protein Accession:
    Q3SY56
    Secondary Accessions:
    • B3KXS4

    Protein attributes for SP6 Gene

    Size:
    376 amino acids
    Molecular mass:
    39840 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SP6 Gene

Post-translational modifications for SP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SP6 Gene

No data available for DME Specific Peptides for SP6 Gene

Domains & Families for SP6 Gene

Protein Domains for SP6 Gene

Suggested Antigen Peptide Sequences for SP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3SY56

UniProtKB/Swiss-Prot:

SP6_HUMAN :
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
  • Contains 3 C2H2-type zinc fingers.
Family:
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
Similarity:
  • Contains 3 C2H2-type zinc fingers.
genes like me logo Genes that share domains with SP6: view

Function for SP6 Gene

Molecular function for SP6 Gene

UniProtKB/Swiss-Prot Function:
Promotes cell proliferation.

Gene Ontology (GO) - Molecular Function for SP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SP6: view
genes like me logo Genes that share phenotypes with SP6: view

Animal Models for SP6 Gene

MGI Knock Outs for SP6:

Animal Model Products

miRNA for SP6 Gene

miRTarBase miRNAs that target SP6

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SP6

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SP6 Gene

Localization for SP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP6 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 SP6 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with SP6: view

Pathways & Interactions for SP6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0042481 regulation of odontogenesis IEA --
genes like me logo Genes that share ontologies with SP6: view

No data available for Pathways by source and SIGNOR curated interactions for SP6 Gene

Transcripts for SP6 Gene

Unigene Clusters for SP6 Gene

Sp6 transcription factor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SP6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SP6 Gene

No ASD Table

Relevant External Links for SP6 Gene

GeneLoc Exon Structure for
SP6
ECgene alternative splicing isoforms for
SP6

Expression for SP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SP6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x11.4) and Skin - Sun Exposed (Lower leg) (x10.0).

NURSA nuclear receptor signaling pathways regulating expression of SP6 Gene:

SP6

SOURCE GeneReport for Unigene cluster for SP6 Gene:

Hs.253603

mRNA Expression by UniProt/SwissProt for SP6 Gene:

Q3SY56-SP6_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with SP6: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SP6 Gene

Orthologs for SP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SP6 35 34
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SP6 35 34
  • 93.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sp6 16 35 34
  • 90.78 (n)
cow
(Bos Taurus)
Mammalia SP6 34 35
  • 90.76 (n)
rat
(Rattus norvegicus)
Mammalia Sp6 34
  • 90.6 (n)
oppossum
(Monodelphis domestica)
Mammalia SP6 35
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SP6 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sp6 34
  • 58.15 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:77358 34
  • 62.4 (n)
SP6 35
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sp1 35
  • 18 (a)
OneToMany
Species where no ortholog for SP6 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SP6 Gene

ENSEMBL:
Gene Tree for SP6 (if available)
TreeFam:
Gene Tree for SP6 (if available)

Paralogs for SP6 Gene

Paralogs for SP6 Gene

genes like me logo Genes that share paralogs with SP6: view

Variants for SP6 Gene

Sequence variations from dbSNP and Humsavar for SP6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10853092 -- 47,869,687(+) CTTTG(A/G)AGTCA intron-variant
rs11079798 -- 47,859,521(+) CACAG(C/G)GTCCT intron-variant
rs111316861 -- 47,876,491(+) GCCTC(A/G)TCAAC upstream-variant-2KB
rs111358475 -- 47,872,806(+) GGCAG(-/AGCCGT)AGGAG intron-variant
rs111539025 -- 47,860,701(+) TCTAC(-/A)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SP6 Gene

Variant ID Type Subtype PubMed ID
nsv517880 CNV loss 19592680
nsv518892 CNV loss 19592680

Variation tolerance for SP6 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP6 Gene

Disorders for SP6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SP6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 6
  • platelet storage pool deficiency
bladder neck obstruction
  • obstruction of bladder neck or vesicourethral orifice
premenstrual tension
  • premenstrual syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SP6

Genetic Association Database (GAD)
SP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SP6
genes like me logo Genes that share disorders with SP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SP6 Gene

Publications for SP6 Gene

  1. Identification of KLF13 and KLF14 (SP6), novel members of the SP/XKLF transcription factor family. (PMID: 11087666) Scohy S. … Szpirer C. (Genomics 2000) 2 3 22 64
  2. The KrA1ppel-like factor epiprofin is expressed by epithelium of developing teeth, hair follicles, and limb buds and promotes cell proliferation. (PMID: 14551215) Nakamura T. … Yamada Y. (J. Biol. Chem. 2004) 2 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PMID: 23535033) Sherva R. … Green R.C. (Alzheimers Dement 2014) 3 64

Products for SP6 Gene

Sources for SP6 Gene

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