Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RSPO4 Gene

protein-coding   GIFtS: 49
GCID: GC20M000890

R-spondin 4

(Previous names: chromosome 20 open reading frame 182, R-spondin family,...)
(Previous symbol: C20orf182)
 Explore 7 diseases affiliated with
RSPO4 via our new
 Human Malady Compendium 
Biological research products
for RSPO4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
R-Spondin 41 2     CRISTIN42 5
C20orf1821 2 3     Chromosome 20 Open Reading Frame 1821
R-Spondin Family, Member 41 2     DJ824F16.31
Roof Plate-Specific Spondin-42 3     R-Spondin-41
HRspo41     

External Ids:    HGNC: 161751   Entrez Gene: 3436372   Ensembl: ENSG000001012827   OMIM: 6105735   UniProtKB: Q2I0M53   

Export aliases for RSPO4 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RSPO4:
This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a
signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded
protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated
with anonychia congenital. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: RSPO4_HUMAN, Q2I0M5
Function: Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the
canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an
inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RSPO4 gene promoter:
         SRF   RP58   SRF (504 AA)   FOXD1   HEN1   SRY   FOXC1   IRF-7A   En-1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRSPO4 promoter sequence
   Search SABiosciences Chromatin IP Primers for RSPO4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RSPO4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

RSPO4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSPO4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M000890:  view genomic region     (about GC identifiers)

Start:
939,095 bp from pter      End:
982,907 bp from pter
Size:
43,813 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RSPO4_HUMAN, Q2I0M5 (See protein sequence)
Recommended Name: R-spondin-4 precursor  
Size: 234 amino acids; 26171 Da
Subunit: Binds heparin (By similarity)
Subcellular location: Secreted (By similarity)
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
Secondary accessions: A2A2I6 Q9UGB2
Alternative splicing: 2 isoforms:  Q2I0M5-1   Q2I0M5-2   

Explore the universe of human proteins at neXtProt for RSPO4: NX_Q2I0M5

Post-translational modifications:

  • Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not proven1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2I0M5

  • RSPO4 Protein expression data from MOPED and PaxDb:    About this image 
    RSPO4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001025042.2  NP_001035096.1  

    ENSEMBL proteins: 
     ENSP00000217260   ENSP00000383475  

    Human Recombinant Protein Products for RSPO4: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for RSPO4 (R-Spondin 4)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: RSPO4
    OriGene Custom Protein Services for RSPO4 
    GenScript Custom Purified and Recombinant Proteins Services for RSPO4
    Novus Biologicals RSPO4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RSPO4

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    RSPO4 for ontologies           About GeneDecksing



    RSPO4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for RSPO4 (R-Spondin 4)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for RSPO4 
    GenScript Custom Superior Antibodies Services for RSPO4
    Abcam antibodies for RSPO4 
    Uscn Antibodies for RSPO4
    ThermoFisher Antibody for RSPO4

    Assay Products for RSPO4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RSPO4
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for RSPO4


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RSPO4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000884 Thrombospondin_1_rpt
     IPR006212 Furin_repeat
     IPR009030 Growth_fac_rcpt

    Graphical View of Domain Structure for InterPro Entry Q2I0M5

    ProtoNet protein and cluster: Q2I0M5

    1 Blocks protein family: IPB006212 Furin-like repeat

    UniProtKB/Swiss-Prot: RSPO4_HUMAN, Q2I0M5
    Domain: The FU repeat is required for activation and stabilization of beta-catenin (By similarity)
    Similarity: Belongs to the R-spondin family
    Similarity: Contains 1 FU (furin-like) repeat
    Similarity: Contains 1 TSP type-1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RSPO4_HUMAN, Q2I0M5
    Function: Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the
    canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an
    inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008201heparin binding IEA--
         
    RSPO4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RSPO4 

    miRNA
    Products:
        
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RSPO4
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate RSPO4 (see all 15):
    hsa-miR-34c-5p hsa-miR-449b hsa-miR-449a hsa-miR-211 hsa-miR-877* hsa-miR-34a hsa-miR-2355-5p hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidRSPO4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RSPO4 (see all 4)
    OriGene shRNA RFP: RSPO4
    OriGene siRNA: RSPO4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RSPO4
    Sirion Biotech Custom design and validation of potent shRNA sequences against RSPO4 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RSPO4
    Sirion Biotech Customized adenovirus for overexpression of RSPO4 
    Sirion Biotech Customized adenovirus for potent knockdown of RSPO4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RSPO4 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RSPO4 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): RSPO4 (NM_001029871)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RSPO4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RSPO4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RSPO4
    Search LifeMap BioReagents cell lines for RSPO4
    Sirion Biotech Customized stable knockdown cell line services for RSPO4 
    Sirion Biotech Customized inducible knockdown cell line services for RSPO4
    Sirion Biotech Customized stable overexpressing cell line services for RSPO4
    Sirion Biotech Customized inducible overexpressing cell line services for RSPO4

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPO4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    Wnt Signaling Pathway0.33

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 R&D Systems Pathway for RSPO4
        Wnt Signaling Pathway



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RSPO4

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016055Wnt receptor signaling pathway IEA--

    RSPO4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RSPO4
    Search CenterWatch for drugs/clinical trials and news about RSPO4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RSPO4 gene (2 alternative transcripts): 
    NM_001029871.3  NM_001040007.2  

    Unigene Cluster for RSPO4:

    R-spondin 4
    Hs.444980  [show with all ESTs]
    Unigene Representative Sequence: NM_001029871
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000217260(uc002wej.3 uc002wek.3) ENST00000400634

    miRNA
    Products:
         
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RSPO4
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate RSPO4 (see all 15):
    hsa-miR-34c-5p hsa-miR-449b hsa-miR-449a hsa-miR-211 hsa-miR-877* hsa-miR-34a hsa-miR-2355-5p hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidRSPO4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RSPO4 (see all 4)
    OriGene shRNA RFP: RSPO4
    OriGene siRNA: RSPO4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RSPO4
    Sirion Biotech Custom design and validation of potent shRNA sequences against RSPO4 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RSPO4 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RSPO4 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): RSPO4 (NM_001029871)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RSPO4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RSPO4 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RSPO4
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RSPO4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RSPO4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RSPO4

    Additional cDNA sequence: 

    AK122609.1 DQ355152.1 

    3 DOTS entries:

    DT.97839035  DT.120838686  DT.120838681 

    21 AceView cDNA sequences:

    BM673289 BQ017185 BQ185331 BM717748 AA416863 AI811035 BU508182 BQ636829 
    AA873081 AA417143 BM681374 BM674941 AK122609 BM682068 BM996047 BM729141 
    BQ188163 AA992432 AA813185 BM706460 BM728200 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RSPO4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGGGAAACA
    RSPO4 Expression
    About this image

    RSPO4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RSPO4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RSPO4

    SOURCE GeneReport for Unigene cluster: Hs.444980
        SABiosciences Custom PCR Arrays for RSPO4
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RSPO4
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RSPO4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RSPO4
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RSPO4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPO4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RSPO4 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RSPO41 R-spondin 4 69.37(n)
    62.44(a)
      428155  XM_425713.3  XP_425713.3 
    lizard
    (Anolis carolinensis)
    Reptilia RSPO46
    --
    57(a)
    1 ↔ 1
    GL343346.1(493482-497493)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5708651 r-spondin-2-like 59.83(n)
    54.04(a)
      570865  XM_694390.2  XP_699482.2 


    ENSEMBL Gene Tree for RSPO4 (if available)
    TreeFam Gene Tree for RSPO4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RSPO4 gene
    RSPO32  RSPO12  RSPO22  
    3 SIMAP similar genes for RSPO4 using alignment to 1 protein entry:     RSPO4_HUMAN:
    RSPO2    RSPO3    RSPO1

    RSPO4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/972 NCBI SNPs in RSPO4 are shown (see all 972    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743154211,2
    Cpathogenic900167(-) TCCGGC/TGCAAG 4 R C mis10--------
    rs743154231,2
    Cpathogenic900903(-) CGACTA/GTCCCC 4 Y C mis10--------
    rs743154201,2
    Cpathogenic900927(-) CCGCCA/GGTACG 4 Q R mis10--------
    rs4779821,2
    C,F,A,H--891167(+) GGTGTC/TACCCT 2 -- ds500110Minor allele frequency- T:0.04NS EA WA NA 1062
    rs1118132601,2
    --891227(+) AGGGCG/CCCTCC 2 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs4843901,2
    F,H--891250(+) TCCCCC/GCAAGC 2 -- ds50015Minor allele frequency- G:0.03NS EA NA 530
    rs4863471,2
    C,F,A,H--891473(+) AACGGA/GGCATT 2 -- ut3116Minor allele frequency- G:0.11MN NS EA NA CSA WA 2065
    rs800864111,2
    F--891568(+) AGCAGG/AGAAGT 2 -- ut311Minor allele frequency- A:0.07WA 118
    rs9441161,2
    C,F,H--891828(+) AGTCAC/TGGCAA 2 -- ut3114Minor allele frequency- T:0.03MN NS EA NA WA 2070
    rs9441171,2
    C,F,H--891905(+) ATAGGC/TAGTGA 2 -- ut31 ese35Minor allele frequency- T:0.02NS EA NA 536

    HapMap Linkage Disequilibrium report for RSPO4 (939095 - 982907 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RSPO4: --
    Human Gene Mutation Database (HGMD): RSPO4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RSPO4
    DNA2.0 Custom Variant and Variant Library Synthesis for RSPO4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RSPO4 for disorders           About GeneDecksing

    OMIM gene information: 610573   
    OMIM disorders: 206800  
    UniProtKB/Swiss-Prot: RSPO4_HUMAN, Q2I0M5
  • Defects in RSPO4 are the cause of nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800]. A nail
  • disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is
    the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies

    7 diseases for RSPO4:    About MalaCards
    nail-patella syndrome    anonychia congenita    palmoplantar keratosis    nail disease
    keratosis    esophageal cancer    esophagitis

    2 diseases from the University of Copenhagen DISEASES database for RSPO4:
    Nail disease     nail-patella syndrome

    Export disorders for RSPO4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RSPO4 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with RSPO4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. R-spondin proteins: a novel link to beta-catenin activation. (PubMed id 16357527)1, 2 Kim K.-A.... Funk W.D. (2006)
    2. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. (PubMed id 17041604)1, 2 Blaydon D.C.... Kelsell D.P. (2006)
    3. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4. (PubMed id 17914448)1, 9 Bruchle N.O....Bergmann C. (2008)
    7. Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. (PubMed id 17186469)1, 9 Bergmann C....Zerres K. (2006)
    8. A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family. (PubMed id 18070203)1 Chishti M.S....Ahmad W. (2008)
    9. Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. (PubMed id 17805348)1 Ishii Y....Christiano A.M. (2008)
    10. Congenital hyponychia without RSPO4 mutation. (PubMed id 18779895)1 Nakamura M. and Miyachi Y. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 343637 HGNC: 16175 AceView: LOC343637 Ensembl:ENSG00000101282 euGenes: HUgn343637
    ECgene: RSPO4 H-InvDB: RSPO4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RSPO4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RSPO4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RSPO4 gene:
    Search GeneIP for patents involving RSPO4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for RSPO4 (R-Spondin 4)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins for RSPO4 (R-Spondin 4)  
     Browse OriGene Antibodies   OriGene shRNA RFP for RSPO4  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RSPO4   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RSPO4  
     OriGene Protein Over-expression Lysate for RSPO4   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for RSPO4   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RSPO4   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RSPO4  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RSPO4   OriGene Custom Protein Services for RSPO4  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RSPO4
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RSPO4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RSPO4
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RSPO4
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RSPO4
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RSPO4
     GenScript Custom Purified and Recombinant Proteins Services for RSPO4 GenScript cDNA clones with any tag delivered in your preferred vector for RSPO4
     GenScript Custom Assay Services for RSPO4 GenScript Custom Superior Antibodies Services for RSPO4
     GenScript Custom overexpressing Cell Line Services for RSPO4 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in RSPO4 promoter
     Search Chromatin IP Primers for RSPO4
     RT2 qPCR Primer Assay in human, mouse, rat RSPO4
     Search GNC Networks for RSPO4
     SABiosciences Custom PCR Arrays for RSPO4
     Search Tocris compounds for RSPO4
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     RSPO4 lysates
     Antibodies for RSPO4
     See all of Abcam's Antibodies, Kits and Proteins for RSPO4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     RSPO4 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for RSPO4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPO4
     SwitchGear 3'UTR luciferase reporter plasmids for RSPO4
     SwitchGear Promoter luciferase reporter plasmids for RSPO4
     ThermoFisher Antibody for RSPO4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RSPO4
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RSPO4
    Sirion Biotech Customized:
     stable knockdown cell line services for RSPO4
     inducible knockdown cell line services for RSPO4
     design and validation of potent shRNA sequences against RSPO4
     adenovirus for potent knockdown of RSPO4
     adenovirus for overexpression of RSPO4
     stable overexpressing cell line services for RSPO4
     inducible overexpressing cell line services for RSPO4
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RSPO4 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4