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] See more...

Aliases for SP6 Gene

Aliases for SP6 Gene

  • Sp6 Transcription Factor 2 3 5
  • Transcription Factor Sp6 3 4
  • Krueppel-Like Factor 14 3 4
  • KLF14 3 4
  • Kruppel-Like Factor 14 3
  • EPIPROFIN 3
  • Epiprofin 2
  • 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 Esophageal Adenosquamous Carcinoma. An important paralog of this gene is SP8.

UniProtKB/Swiss-Prot Summary for SP6 Gene

Additional gene information for SP6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SP6 Gene

Genomics for SP6 Gene

GeneHancer (GH) Regulatory Elements for SP6 Gene

Promoters and enhancers for SP6 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 SP6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SP6

Top Transcription factor binding sites by QIAGEN in the SP6 gene promoter:
  • Bach1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a

Genomic Locations for SP6 Gene

Genomic Locations for SP6 Gene
chr17:47,844,908-47,876,190
(GRCh38/hg38)
Size:
31,283 bases
Orientation:
Minus strand
chr17:45,922,279-45,933,240
(GRCh37/hg19)
Size:
10,962 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

Gene Families for SP6 Gene

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

Protein Domains for SP6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SP6 Gene

GenScript: Design optimal peptide antigens:
  • Krueppel-like factor 14 (SP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3SY56

UniProtKB/Swiss-Prot:

SP6_HUMAN :
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
Domain:
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Family:
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
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.

Phenotypes From GWAS Catalog for SP6 Gene

Gene Ontology (GO) - Molecular Function for SP6 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: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:
  • Sp6 Sp6<tm1.1Ibmm>
  • Sp6 Sp6<tm1Yoya>

Animal Model Products

CRISPR Products

miRNA for SP6 Gene

miRTarBase miRNAs that target SP6

Clone Products

  • Addgene plasmids for SP6

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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Centrosome (2)
  • Mitotic spindle (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with SP6: view

Pathways & Interactions for SP6 Gene

PathCards logo

SuperPathways for SP6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
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

Drugs & Compounds for SP6 Gene

No Compound Related Data Available

Transcripts for SP6 Gene

mRNA/cDNA for SP6 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SP6

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

No ASD Table

Relevant External Links for SP6 Gene

GeneLoc Exon Structure 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SP6 Gene

  • Stomach(2.3)
  • Blood(2.1)
  • Kidney(2)
  • Spleen(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with SP6: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SP6 31 30
  • 93.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sp6 17 31 30
  • 90.78 (n)
cow
(Bos Taurus)
Mammalia SP6 31 30
  • 90.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sp6 30
  • 90.6 (n)
oppossum
(Monodelphis domestica)
Mammalia SP6 31
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SP6 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sp6 30
  • 58.15 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:77358 30
  • 62.4 (n)
SP6 31
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sp1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SP6: view image

Paralogs for SP6 Gene

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

Variants for SP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SP6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs34309518 - p.Val156Ile

Additional dbSNP identifiers (rs#s) for SP6 Gene

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)

Additional Variant Information for SP6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SP6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 6
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
esophageal adenosquamous carcinoma
muscular dystrophy, congenital, due to integrin alpha-7 deficiency
  • myopathy, congenital, due to integrin alpha-7 deficiency
melanoma, uveal
  • uveal melanoma
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search SP6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 23 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The Krüppel-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 (The Journal of biological chemistry 2004) 2 3 54
  4. The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs. (PMID: 31375868) Piskacek M … Keegan LP (Cellular and molecular life sciences : CMLS 2019) 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for SP6 Gene

Sources for SP6 Gene