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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

GeneHancer (GH) Regulatory Elements for SP8 Gene

Promoters and enhancers for SP8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I020782 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +1.6 1608 5.3 HDGF PKNOX1 SMAD1 ARNT SIN3A ZNF2 POLR2B ZNF143 ZNF548 MCM3 SP8 ABCB5 GC07P020706
GH07I020797 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.7 -12.0 -12040 3.7 HDAC1 PKNOX1 RB1 ZNF335 ZNF121 GLIS2 KLF7 ZNF263 SP3 ZBTB11 SP8 GC07P020793 GC07M020819
GH07I021261 Enhancer 0.7 ENCODE 10.5 -475.1 -475072 1.2 MEIS2 CTCF PKNOX1 MAX SIN3A BMI1 FEZF1 RAD21 ZNF143 SMC3 SP4 SP8 ASS1P11 GC07M021313
GH07I021254 Enhancer 0.6 ENCODE 10.8 -467.3 -467348 0.2 CTCF ZNF654 RB1 RNF2 TRIM22 SIN3A REST RAD21 POLR2A GLIS1 SP4 SP8 ASS1P11 GC07M021313
GH07I020894 Enhancer 0.4 ENCODE 10.6 -109.0 -109042 2.1 NFE2 FOS SP8 GC07M020943 PIR32334 RPS26P30 LINC01162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SP8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SP8 gene promoter:

Genomic Locations for SP8 Gene

Genomic Locations for SP8 Gene
5,423 bases
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:
    Recommended name:
    Transcription factor Sp8
    Protein Accession:
    Secondary Accessions:
    • Q7Z615
    • Q7Z616
    • Q96MJ1

    Protein attributes for SP8 Gene

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

    Alternative splice isoforms for SP8 Gene


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

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

Protein Domains for SP8 Gene


Suggested Antigen Peptide Sequences for SP8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Sp1 C2H2-type zinc-finger protein 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:

Clone Products

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


Subcellular locations from

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
cytosol 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 by RNA polymerase II 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:

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP2: -

Relevant External Links for SP8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for SP8 Gene:


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

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
(Pan troglodytes)
Mammalia SP8 33 34
  • 99.61 (n)
(Monodelphis domestica)
Mammalia SP8 34
  • 95 (a)
(Bos Taurus)
Mammalia SP8 33 34
  • 93.07 (n)
(Rattus norvegicus)
Mammalia Sp8 33
  • 88.96 (n)
(Mus musculus)
Mammalia Sp8 33 16 34
  • 88.07 (n)
(Gallus gallus)
Aves SP8 33
  • 86.89 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sp8 33
  • 72.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9284 33
(Danio rerio)
Actinopterygii sp8a 34
  • 76 (a)
sp8b 33 34
  • 72.2 (n)
Dr.16588 33
fruit fly
(Drosophila melanogaster)
Insecta Sp1 34
  • 34 (a)
(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

Gene Tree for SP8 (if available)
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 Variation AA Info Type
rs1000251075 -- 20,785,133(-) C/G coding_sequence_variant, missense_variant
rs1000989047 -- 20,783,785(-) G/C 3_prime_UTR_variant
rs1001058278 -- 20,783,534(-) A/C/T 3_prime_UTR_variant
rs1001677623 -- 20,782,712(-) C/T 3_prime_UTR_variant
rs1001766025 -- 20,788,793(-) T/C upstream_transcript_variant

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)

Additional Variant Information for SP8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for SP8

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  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 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. Genomic structure and cloning of two transcript isoforms of human Sp8. (PMID: 15533246) Milona MA … Edgar AJ (BMC genomics 2004) 3 4 58

Products for SP8 Gene

Sources for SP8 Gene

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