Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SBSPON Gene

Aliases for SBSPON Gene

  • Somatomedin B And Thrombospondin Type 1 Domain Containing 2 3 5
  • Rpe-Spondin 2 3 4
  • C8orf84 3 4
  • RPESP 3 4
  • Somatomedin-B And Thrombospondin Type-1 Domain-Containing Protein 3
  • Chromosome 8 Open Reading Frame 84 2
  • RPE Spondin 2

External Ids for SBSPON Gene

Previous HGNC Symbols for SBSPON Gene

  • C8orf84

Previous GeneCards Identifiers for SBSPON Gene

  • GC08M073977

Summaries for SBSPON Gene

GeneCards Summary for SBSPON Gene

SBSPON (Somatomedin B And Thrombospondin Type 1 Domain Containing) is a Protein Coding gene. Among its related pathways are O-glycosylation of TSR domain-containing proteins and Diseases of glycosylation. GO annotations related to this gene include scavenger receptor activity and polysaccharide binding.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBSPON Gene

Genomics for SBSPON Gene

Regulatory Elements for SBSPON Gene

Enhancers for SBSPON 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
GH08G073173 1.1 Ensembl ENCODE 11.7 -50.4 -50357 1.0 RB1 ARID4B SIN3A ZNF2 RAD21 ZNF366 ZNF143 CREM THAP11 ZNF654 SBSPON LOC646197
GH08G073089 1.2 Ensembl ENCODE 10 +33.1 33123 2.3 PKNOX1 FEZF1 ZNF2 ZNF121 GLIS2 FOS TSHZ1 SMARCB1 ZNF518A ZNF579 SBSPON ENSG00000237061 PIR48581
GH08G073168 0.8 ENCODE 11.5 -44.6 -44599 0.9 PKNOX1 BACH1 BMI1 EBF1 ARID3A ZNF366 POLR2A EED NFE2 ETV6 SBSPON LOC646197
GH08G073135 0.8 ENCODE 7.8 -12.1 -12084 2.0 FEZF1 ZBTB7B RAD21 ZNF366 ZNF207 FOS THAP11 MIXL1 EGR2 ZNF654 SBSPON LOC646197
GH08G073202 0.5 ENCODE 9.7 -78.9 -78933 0.2 FOXA2 NFIB NR2F6 SBSPON LOC646197
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SBSPON on UCSC Golden Path with GeneCards custom track

Genomic Location for SBSPON Gene

Chromosome:
8
Start:
73,064,540 bp from pter
End:
73,124,088 bp from pter
Size:
59,549 bases
Orientation:
Minus strand

Genomic View for SBSPON Gene

Genes around SBSPON on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SBSPON Gene

Proteins for SBSPON Gene

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

    Protein Symbol:
    Q8IVN8-SBSPO_HUMAN
    Recommended name:
    Somatomedin-B and thrombospondin type-1 domain-containing protein
    Protein Accession:
    Q8IVN8
    Secondary Accessions:
    • A8KAA5
    • Q96J64

    Protein attributes for SBSPON Gene

    Size:
    264 amino acids
    Molecular mass:
    29610 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH42877.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK83466.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAF85659.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SBSPON Gene

Post-translational modifications for SBSPON Gene

  • Glycosylation at isoforms=227
  • Modification sites at PhosphoSitePlus

Other Protein References for SBSPON Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SBSPON Gene

Domains & Families for SBSPON Gene

Protein Domains for SBSPON Gene

Suggested Antigen Peptide Sequences for SBSPON Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IVN8

UniProtKB/Swiss-Prot:

SBSPO_HUMAN :
  • Belongs to the thrombospondin family.
Family:
  • Belongs to the thrombospondin family.
genes like me logo Genes that share domains with SBSPON: view

No data available for Gene Families for SBSPON Gene

Function for SBSPON Gene

Gene Ontology (GO) - Molecular Function for SBSPON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005044 scavenger receptor activity IEA --
GO:0030247 polysaccharide binding IEA --
genes like me logo Genes that share ontologies with SBSPON: view
genes like me logo Genes that share phenotypes with SBSPON: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SBSPON

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SBSPON Gene

Localization for SBSPON Gene

Subcellular locations from UniProtKB/Swiss-Prot for SBSPON Gene

Secreted, extracellular space, extracellular matrix.

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 SBSPON gene
Compartment Confidence
extracellular 4
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SBSPON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with SBSPON: view

Pathways & Interactions for SBSPON Gene

genes like me logo Genes that share pathways with SBSPON: view

Interacting Proteins for SBSPON Gene

Gene Ontology (GO) - Biological Process for SBSPON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with SBSPON: view

No data available for SIGNOR curated interactions for SBSPON Gene

Drugs & Compounds for SBSPON Gene

No Compound Related Data Available

Transcripts for SBSPON Gene

mRNA/cDNA for SBSPON Gene

Unigene Clusters for SBSPON Gene

Somatomedin B and thrombospondin, type 1 domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SBSPON Gene

GeneLoc Exon Structure for
SBSPON
ECgene alternative splicing isoforms for
SBSPON

Expression for SBSPON Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Nerve - Tibial (x6.6), Artery - Coronary (x4.8), Artery - Tibial (x4.5), and Esophagus - Gastroesophageal Junction (x4.2).

Protein differential expression in normal tissues from HIPED for SBSPON Gene

This gene is overexpressed in Urinary Bladder (11.1), Prostate (9.0), Spinal cord (8.5), and Colon (6.4).

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



NURSA nuclear receptor signaling pathways regulating expression of SBSPON Gene:

SBSPON

SOURCE GeneReport for Unigene cluster for SBSPON Gene:

Hs.439040

mRNA Expression by UniProt/SwissProt for SBSPON Gene:

Q8IVN8-SBSPO_HUMAN
Tissue specificity: Detected in aorta extracellular matrix (at protein level).

Evidence on tissue expression from TISSUES for SBSPON Gene

  • Eye(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SBSPON: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SBSPON Gene

Orthologs for SBSPON Gene

This gene was present in the common ancestor of animals.

Orthologs for SBSPON Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SBSPON 34 35
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia SBSPON 34 35
  • 89.52 (n)
cow
(Bos Taurus)
Mammalia SBSPON 34 35
  • 89.39 (n)
mouse
(Mus musculus)
Mammalia Sbspon 34 16 35
  • 87.63 (n)
rat
(Rattus norvegicus)
Mammalia Sbspon 34
  • 85.73 (n)
oppossum
(Monodelphis domestica)
Mammalia SBSPON 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SBSPON 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H8ORF84 34
  • 70.83 (n)
SBSPON 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SBSPON 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sbspon 34
  • 65.64 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100151218 34
  • 62.23 (n)
SBSPON 35
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42339 35
  • 19 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_R17.3 34
  • 42.74 (n)
R17.3 35
  • 15 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.275 35
  • 21 (a)
OneToOne
Species where no ortholog for SBSPON 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)
  • 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 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 SBSPON Gene

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

Paralogs for SBSPON Gene

Pseudogenes.org Pseudogenes for SBSPON Gene

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

No data available for Paralogs for SBSPON Gene

Variants for SBSPON Gene

Sequence variations from dbSNP and Humsavar for SBSPON Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000025426 -- 73,073,038(+) ACCTA(C/T)AGGTG intron-variant
rs1000056716 -- 73,073,375(+) ACAAT(A/G)TGAGG intron-variant
rs1000187619 -- 73,074,492(+) CAGAG(A/G)GGTTA intron-variant
rs1000243154 -- 73,067,072(+) CACGG(G/T)CCACC utr-variant-3-prime
rs1000365322 -- 73,067,987(+) TCTAT(C/T)TGAGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2517224 CNV insertion 19546169
esv2737154 CNV deletion 23290073
esv3617627 CNV loss 21293372
nsv1075146 CNV deletion 25765185
nsv1137615 CNV deletion 24896259
nsv831354 CNV gain 17160897

Variation tolerance for SBSPON Gene

Residual Variation Intolerance Score: 73.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.36; 92.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SBSPON Gene

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

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

Disorders for SBSPON Gene

Relevant External Links for SBSPON

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SBSPON

No disorders were found for SBSPON Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SBSPON Gene

Publications for SBSPON Gene

  1. Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PMID: 12107410) Wistow G. … Peterson K. (Mol. Vis. 2002) 2 3 4 64
  2. Proteomics characterization of extracellular space components in the human aorta. (PMID: 20551380) Didangelos A. … Mayr M. (Mol. Cell. Proteomics 2010) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PMID: 22412388) Kenny E.E. … Peter I. (PLoS Genet. 2012) 3 64
  5. Genetic variants near PDGFRA are associated with corneal curvature in Australians. (PMID: 22969067) Mishra A. … Mackey D.A. (Invest. Ophthalmol. Vis. Sci. 2012) 3 64

Products for SBSPON Gene

Sources for SBSPON Gene

Content
Loading form....