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Aliases for SP8 Gene

Aliases for SP8 Gene

  • Sp8 Transcription Factor 2 3 5
  • Specificity Protein 8 3 4
  • Transcription Factor Sp8 3
  • BTD 3

External Ids for SP8 Gene

Previous GeneCards Identifiers for SP8 Gene

  • GC07U990363
  • GC07M020532
  • GC07M020568
  • GC07M020566
  • GC07M020595

Summaries for SP8 Gene

Entrez Gene Summary for SP8 Gene

  • The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

GeneCards Summary for SP8 Gene

SP8 (Sp8 Transcription Factor) is a Protein Coding gene. Diseases associated with SP8 include Skin Papilloma and Vaginal Discharge. An important paralog of this gene is SP9.

UniProtKB/Swiss-Prot for SP8 Gene

  • Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity).

Gene Wiki entry for SP8 Gene

Additional gene information for SP8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP8 Gene

Genomics for SP8 Gene

Regulatory Elements for SP8 Gene

Enhancers for SP8 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
GH07H020797 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.7 -12.0 -12041 3 PKNOX1 RB1 ZNF121 GLIS2 KLF7 SP3 ZEB2 ZNF398 ELF1 TFDP1 SP8 GC07P020793 GC07M020819
GH07H021261 0.8 ENCODE 10.5 -475.1 -475073 1 CTCF PKNOX1 MAX BMI1 FEZF1 RAD21 SMC3 ZNF143 RUNX3 IKZF2 SP4 SP8 ASS1P11 GC07M021313
GH07H021254 0.7 ENCODE 10.8 -467.3 -467348 0 CTCF ZNF654 RB1 RNF2 TRIM22 REST RAD21 POLR2A GLIS1 PATZ1 SP4 SP8 ASS1P11 GC07M021313
GH07H020894 0.4 ENCODE 10.6 -109.0 -109042 2 FOS NFE2 SP8 GC07M020943 PIR32334 RPS26P30
GH07H020954 0.3 FANTOM5 8.5 -167.3 -167323 0 SP8 GC07M020943 PIR32334 GC07M021112
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SP8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SP8 Gene

Chromosome:
7
Start:
20,781,467 bp from pter
End:
20,786,889 bp from pter
Size:
5,423 bases
Orientation:
Minus strand

Genomic View for SP8 Gene

Genes around SP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP8 Gene

Proteins for SP8 Gene

  • Protein details for SP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXZ3-SP8_HUMAN
    Recommended name:
    Transcription factor Sp8
    Protein Accession:
    Q8IXZ3
    Secondary Accessions:
    • Q7Z615
    • Q7Z616
    • Q96MJ1

    Protein attributes for SP8 Gene

    Size:
    490 amino acids
    Molecular mass:
    48674 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71297.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SP8 Gene

Post-translational modifications for SP8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SP8 Gene

No data available for DME Specific Peptides for SP8 Gene

Domains & Families for SP8 Gene

Gene Families for SP8 Gene

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

Protein Domains for SP8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SP8 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IXZ3

UniProtKB/Swiss-Prot:

SP8_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 SP8: view

Function for SP8 Gene

Molecular function for SP8 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity).

Phenotypes From GWAS Catalog for SP8 Gene

Gene Ontology (GO) - Molecular Function for SP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
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 SP8: view
genes like me logo Genes that share phenotypes with SP8: view

Animal Models for SP8 Gene

MGI Knock Outs for SP8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SP8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SP8 Gene

Localization for SP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP8 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 SP8 gene
Compartment Confidence
nucleus 5
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with SP8: view

Pathways & Interactions for SP8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP8 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 from RNA polymerase II promoter IBA --
GO:0009953 dorsal/ventral pattern formation IEA --
GO:0009954 proximal/distal pattern formation IEA --
genes like me logo Genes that share ontologies with SP8: view

No data available for Pathways by source and SIGNOR curated interactions for SP8 Gene

Drugs & Compounds for SP8 Gene

No Compound Related Data Available

Transcripts for SP8 Gene

Unigene Clusters for SP8 Gene

Sp8 transcription factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SP8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SP8 Gene

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

Relevant External Links for SP8 Gene

GeneLoc Exon Structure for
SP8
ECgene alternative splicing isoforms for
SP8

Expression for SP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SP8 Gene

mRNA differential expression in normal tissues according to GTEx for SP8 Gene

This gene is overexpressed in Prostate (x17.5), Skin - Sun Exposed (Lower leg) (x5.7), Brain - Anterior cingulate cortex (BA24) (x4.9), and Brain - Frontal Cortex (BA9) (x4.3).

Protein differential expression in normal tissues from HIPED for SP8 Gene

This gene is overexpressed in Pancreatic juice (53.8) and Adipocyte (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SP8 Gene



Protein tissue co-expression partners for SP8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SP8 Gene:

SP8

SOURCE GeneReport for Unigene cluster for SP8 Gene:

Hs.195922

Evidence on tissue expression from TISSUES for SP8 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with SP8: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SP8 Gene

Orthologs for SP8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SP8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SP8 34 33
  • 99.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SP8 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SP8 34 33
  • 93.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sp8 33
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Sp8 16 34 33
  • 88.07 (n)
chicken
(Gallus gallus)
Aves SP8 33
  • 86.89 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sp8 33
  • 72.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9284 33
zebrafish
(Danio rerio)
Actinopterygii sp8a 34
  • 76 (a)
OneToMany
sp8b 33 34
  • 72.2 (n)
Dr.16588 33
fruit fly
(Drosophila melanogaster)
Insecta Sp1 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sptf-2 33
  • 47.58 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11111 33
Species where no ortholog for SP8 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)
  • dog (Canis familiaris)
  • 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 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 SP8 Gene

ENSEMBL:
Gene Tree for SP8 (if available)
TreeFam:
Gene Tree for SP8 (if available)

Paralogs for SP8 Gene

Paralogs for SP8 Gene

genes like me logo Genes that share paralogs with SP8: view

Variants for SP8 Gene

Sequence variations from dbSNP and Humsavar for SP8 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000251075 -- 20,785,133(+) TCCCA(C/G)CAGCT reference, missense
rs1000989047 -- 20,783,785(+) CAGCC(C/G)TCTGC utr-variant-3-prime
rs1001058278 -- 20,783,534(+) GAAAG(A/T)AAGCT utr-variant-3-prime
rs1001677623 -- 20,782,712(+) TGATA(C/T)CTATC utr-variant-3-prime
rs1001766025 -- 20,788,793(+) ATACT(C/T)TGAAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SP8 Gene

Variant ID Type Subtype PubMed ID
nsv1030726 CNV gain 25217958
nsv1114923 CNV deletion 24896259
nsv1140748 CNV deletion 24896259
nsv824024 CNV gain 20364138

Variation tolerance for SP8 Gene

Gene Damage Index Score: 5.10; 69.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SP8 Gene

Human Gene Mutation Database (HGMD)
SP8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SP8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP8 Gene

Disorders for SP8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SP8 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
skin papilloma
  • cutaneous papilloma
vaginal discharge
- elite association - COSMIC cancer census association via MalaCards
Search SP8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SP8

Genetic Association Database (GAD)
SP8
Human Genome Epidemiology (HuGE) Navigator
SP8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SP8
genes like me logo Genes that share disorders with SP8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SP8 Gene

Publications for SP8 Gene

  1. Genome-wide association study of bipolar I disorder in the Han Chinese population. (PMID: 20386566) Lee MT … Cheng AT (Molecular psychiatry 2011) 3 45 60
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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 60
  5. Genomic structure and cloning of two transcript isoforms of human Sp8. (PMID: 15533246) Milona MA … Edgar AJ (BMC genomics 2004) 3 4 60

Products for SP8 Gene

Sources for SP8 Gene

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