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Aliases for RSPO3 Gene

Aliases for RSPO3 Gene

  • R-Spondin 3 2 3 5
  • Thrombospondin Type-1 Domain-Containing Protein 2 3 4
  • Thrombospondin, Type I, Domain Containing 2 2 3
  • Protein With TSP Type-1 Repeat 3 4
  • Roof Plate-Specific Spondin-3 3 4
  • THSD2 3 4
  • PWTSR 3 4
  • R-Spondin 3 Homolog (Xenopus Laevis) 2
  • R-Spondin 3 Homolog 3
  • CRISTIN1 3
  • HPWTSR 4
  • HRspo3 4

External Ids for RSPO3 Gene

Previous HGNC Symbols for RSPO3 Gene

  • THSD2

Previous GeneCards Identifiers for RSPO3 Gene

  • GC06P127482
  • GC06P125016

Summaries for RSPO3 Gene

Entrez Gene Summary for RSPO3 Gene

  • This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]

GeneCards Summary for RSPO3 Gene

RSPO3 (R-Spondin 3) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Wnt Signaling Pathways: beta-Catenin-independent Wnt/PCP Signaling Pathways. GO annotations related to this gene include receptor binding and G-protein coupled receptor binding. An important paralog of this gene is RSPO2.

UniProtKB/Swiss-Prot for RSPO3 Gene

  • Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway (PubMed:21727895, PubMed:21909076, PubMed:22615920). Acts as a key regulator of angiogenesis by controlling vascular stability and pruning: acts by activating the non-canonical Wnt signaling pathway in endothelial cells (By similarity).

Gene Wiki entry for RSPO3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPO3 Gene

Genomics for RSPO3 Gene

Regulatory Elements for RSPO3 Gene

Promoters for RSPO3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RSPO3 on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPO3 Gene

Chromosome:
6
Start:
127,118,604 bp from pter
End:
127,199,481 bp from pter
Size:
80,878 bases
Orientation:
Plus strand

Genomic View for RSPO3 Gene

Genes around RSPO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPO3 Gene

Proteins for RSPO3 Gene

  • Protein details for RSPO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXY4-RSPO3_HUMAN
    Recommended name:
    R-spondin-3
    Protein Accession:
    Q9BXY4
    Secondary Accessions:
    • B2RC27
    • Q5VTV4
    • Q96K87

    Protein attributes for RSPO3 Gene

    Size:
    272 amino acids
    Molecular mass:
    30929 Da
    Quaternary structure:
    • Interacts with the extracellular domain of FZD8 and LRP6 (By similarity). It however does not form a ternary complex with FZD8 and LRP6 (By similarity). Interacts with WNT1 (By similarity). Binds heparin. Interacts with LGR4, LGR5 and LGR6 (PubMed:21727895, PubMed:21909076, PubMed:22615920).
    Miscellaneous:
    • Upon injection into mice, it induces rapid onset of crypt cell proliferation involving beta-catenin stabilization. It also displays efficacy in a model of chemotherapy-induced intestinal mucositis (PubMed:16357527).

    Alternative splice isoforms for RSPO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPO3 Gene

Proteomics data for RSPO3 Gene at MOPED

Post-translational modifications for RSPO3 Gene

  • Glycosylation at Asn 36
  • Modification sites at PhosphoSitePlus

Other Protein References for RSPO3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RSPO3 Gene

Domains & Families for RSPO3 Gene

Gene Families for RSPO3 Gene

Protein Domains for RSPO3 Gene

Suggested Antigen Peptide Sequences for RSPO3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXY4

UniProtKB/Swiss-Prot:

RSPO3_HUMAN :
  • The FU repeats are required for activation and stabilization of beta-catenin.
  • Belongs to the R-spondin family.
  • Contains 2 FU (furin-like) repeats.
Domain:
  • The FU repeats are required for activation and stabilization of beta-catenin.
  • Contains 1 TSP type-1 domain.
Family:
  • Belongs to the R-spondin family.
Similarity:
  • Contains 2 FU (furin-like) repeats.
genes like me logo Genes that share domains with RSPO3: view

Function for RSPO3 Gene

Molecular function for RSPO3 Gene

UniProtKB/Swiss-Prot Function:
Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway (PubMed:21727895, PubMed:21909076, PubMed:22615920). Acts as a key regulator of angiogenesis by controlling vascular stability and pruning: acts by activating the non-canonical Wnt signaling pathway in endothelial cells (By similarity).

Gene Ontology (GO) - Molecular Function for RSPO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 22615920
genes like me logo Genes that share ontologies with RSPO3: view
genes like me logo Genes that share phenotypes with RSPO3: view

Animal Models for RSPO3 Gene

MGI Knock Outs for RSPO3:

Animal Model Products

  • Taconic Biosciences Mouse Models for RSPO3

miRNA for RSPO3 Gene

miRTarBase miRNAs that target RSPO3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RSPO3 Gene

Localization for RSPO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPO3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPO3 Gene COMPARTMENTS Subcellular localization image for RSPO3 gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for RSPO3 Gene

Pathways & Interactions for RSPO3 Gene

genes like me logo Genes that share pathways with RSPO3: view

SIGNOR curated interactions for RSPO3 Gene

Activates:

Gene Ontology (GO) - Biological Process for RSPO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001974 blood vessel remodeling ISS --
GO:0030177 positive regulation of Wnt signaling pathway NAS 24431302
GO:0090263 positive regulation of canonical Wnt signaling pathway IEA --
GO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway TAS 24431302
genes like me logo Genes that share ontologies with RSPO3: view

Drugs & Compounds for RSPO3 Gene

No Compound Related Data Available

Transcripts for RSPO3 Gene

mRNA/cDNA for RSPO3 Gene

Unigene Clusters for RSPO3 Gene

R-spondin 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSPO3 Gene

No ASD Table

Relevant External Links for RSPO3 Gene

GeneLoc Exon Structure for
RSPO3
ECgene alternative splicing isoforms for
RSPO3

Expression for RSPO3 Gene

mRNA expression in normal human tissues for RSPO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPO3 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x7.9), Esophagus - Muscularis (x6.4), and Uterus (x5.3).

SOURCE GeneReport for Unigene cluster for RSPO3 Gene Hs.135254

mRNA Expression by UniProt/SwissProt for RSPO3 Gene

Q9BXY4-RSPO3_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed at higher level in placenta, small intestine, fetal thymus and lymph node (PubMed:12463421). Highly expressed in endothelial cells (PubMed:26766444).
genes like me logo Genes that share expression patterns with RSPO3: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for RSPO3 Gene

Orthologs for RSPO3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RSPO3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSPO3 35
  • 92.03 (n)
  • 90.81 (a)
RSPO3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rspo3 35
  • 88.85 (n)
  • 87.13 (a)
Rspo3 16
Rspo3 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RSPO3 35
  • 99.51 (n)
  • 99.63 (a)
RSPO3 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rspo3 35
  • 88.36 (n)
  • 86.76 (a)
dog
(Canis familiaris)
Mammalia RSPO3 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSPO3 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPO3 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPO3 35
  • 80.53 (n)
  • 80.8 (a)
RSPO3 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSPO3 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rspo3 35
  • 77.51 (n)
  • 76.7 (a)
Str.18417 35
zebrafish
(Danio rerio)
Actinopterygii rspo3 35
  • 61.81 (n)
  • 58.25 (a)
rspo3 36
  • 42 (a)
OneToOne
Species with no ortholog for RSPO3:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 RSPO3 Gene

ENSEMBL:
Gene Tree for RSPO3 (if available)
TreeFam:
Gene Tree for RSPO3 (if available)

Paralogs for RSPO3 Gene

Paralogs for RSPO3 Gene

(3) SIMAP similar genes for RSPO3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RSPO3: view

Variants for RSPO3 Gene

Sequence variations from dbSNP and Humsavar for RSPO3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1134070 -- 127,199,384(+) AGTAT(C/T)CATAA utr-variant-3-prime
rs4585580 -- 127,199,900(+) CTTTA(C/T)GCTAG downstream-variant-500B
rs3813374 -- 127,196,121(-) TTGTT(C/T)AGACA utr-variant-3-prime
rs4481455 -- 127,193,873(+) TCGAG(G/T)AATCA intron-variant
rs6569475 -- 127,190,378(+) AGCCA(A/G)GACTG intron-variant

Variation tolerance for RSPO3 Gene

Residual Variation Intolerance Score: 40.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPO3 Gene

HapMap Linkage Disequilibrium report
RSPO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RSPO3 Gene

Disorders for RSPO3 Gene

Relevant External Links for RSPO3

Genetic Association Database (GAD)
RSPO3
Human Genome Epidemiology (HuGE) Navigator
RSPO3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPO3

No disorders were found for RSPO3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RSPO3 Gene

Publications for RSPO3 Gene

  1. LGR6 is a high affinity receptor of R-spondins and potentially functions as a tumor suppressor. (PMID: 22615920) Gong X. … Liu Q. (PLoS ONE 2012) 3 4 67
  2. The thrombospondin type 1 repeat (TSR) superfamily: diverse proteins with related roles in neuronal development. (PMID: 10842357) Adams J.C. … Tucker R.P. (Dev. Dyn. 2000) 2 3
  3. Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. (PMID: 24430505) Moayyeri A. … Kaptoge S.K. (Hum. Mol. Genet. 2014) 3
  4. Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease. (PMID: 24431302) Arenas E. (J Mol Cell Biol 2014) 3
  5. Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. (PMID: 24945404) Kemp J.P. … Evans D.M. (PLoS Genet. 2014) 3

Products for RSPO3 Gene

Sources for RSPO3 Gene

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