Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RSPO4 Gene

protein-coding   GIFtS: 54
GCID: GC20M000890

R-Spondin 4

(Previous names: chromosome 20 open reading frame 182, R-spondin family,...)
(Previous symbol: C20orf182)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
R-Spondin 41 2     hRspo42 3
C20orf1821 2 3     CRISTIN42 5
R-Spondin Family, Member 41 2     Chromosome 20 Open Reading Frame 1821
Roof Plate-Specific Spondin-42 3     R-spondin-42

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

TryGeneCards Plus

Entrez Gene summary for RSPO4 Gene:
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)

GeneCards Summary for RSPO4 Gene:
RSPO4 (R-spondin 4) is a protein-coding gene. Diseases associated with RSPO4 include anonychia congenita, and nail disease. GO annotations related to this gene include heparin binding. An important paralog of this gene is RSPO3.

UniProtKB/Swiss-Prot: RSPO4_HUMAN, Q2I0M5
Function: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. 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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000020.11  NT_011387.9  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for RSPO4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

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). Interacts with LGR4, LGR5 and LGR6
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)
Secondary accessions: A2A2I6 Q9UGB2
Alternative splicing: 2 isoforms:  Q2I0M5-1   Q2I0M5-2   

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

Explore proteomics data for RSPO4 at MOPED

Post-translational modifications: 

  • Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not
    proven1
  • Glycosylation2 at Asn34
  • Modification sites at PhosphoSitePlus

  • See RSPO4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001025042.2  NP_001035096.1  

    ENSEMBL proteins: 
     ENSP00000217260   ENSP00000383475  
    Reactome Protein details: Q2I0M5

    RSPO4 Human Recombinant Protein Products:

    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 for RSPO4
    OriGene Custom MassSpec
    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 Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RSPO4

    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
    Novus Biologicals RSPO4 Antibody
    Abcam antibodies for RSPO4
    Cloud-Clone Corp. Antibodies for RSPO4
    ThermoFisher Antibody for RSPO4
    LSBio Antibodies in human, mouse, rat for RSPO4

    RSPO4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RSPO4
    R&D Systems ELISAs for RSPO4 (R-Spondin 4)
    GenScript Custom Assay Services for RSPO4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RSPO4
    Cloud-Clone Corp. CLIAs for RSPO4


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

    TryGeneCards Plus
    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    3 InterPro protein domains:
     IPR000884 Thrombospondin_1_rpt
     IPR006212 Furin_repeat
     IPR009030 Growth_fac_rcpt_N_dom

    Graphical View of Domain Structure for InterPro Entry Q2I0M5

    ProtoNet protein and cluster: Q2I0M5

    1 Blocks protein domain: 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


    RSPO4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RSPO4_HUMAN, Q2I0M5
    Function: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. 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

         Gene Ontology (GO): 1 molecular function term:    About this table

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


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RSPO4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RSPO4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RSPO4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RSPO4

    miRNA
    Products:
        
    miRTarBase miRNAs that target RSPO4:
    hsa-mir-335-5p (MIRT017214)

    Block miRNA regulation of human, mouse, rat RSPO4 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for RSPO4
    Predesigned siRNA for gene silencing in human, mouse, rat RSPO4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RSPO4

    Clone
    Products:
         
    OriGene clones in human, mouse for RSPO4 (see all 9)
    OriGene ORF clones in mouse, rat for RSPO4
    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)
    Sino Biological Human cDNA Clone for RSPO4
    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
    Browse ESI BIO Cell Lines and PureStem Progenitors for RSPO4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPO4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    RSPO4_HUMAN, Q2I0M5: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    RSPO4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for RSPO4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Non-Canonical Wnt Pathway
    Non-Canonical Wnt Pathway0.53
    Canonical Wnt Pathway0.53
    2Wnt signaling pathway (KEGG)
    Wnt Signaling Pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RSPO4
        Wnt Signaling Pathways


    2 Sino Biological Pathways for RSPO4
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway

    1 Reactome Pathway for RSPO4
        regulation of FZD by ubiquitination



    RSPO4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RSPO4
    Interactions:

        Search GeneGlobe Interaction Network for RSPO4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for RSPO4 (ENSP000002172604) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DMXL1ENSP000003096904STRING: ENSP00000309690
    DMXL2ENSP000002510764STRING: ENSP00000251076
    HSPBP1ENSP000002556314STRING: ENSP00000255631
    SIL1ENSP000002651954STRING: ENSP00000265195
    STX5ENSP000002941794STRING: ENSP00000294179
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    RSPO4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RSPO4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat RSPO4 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for RSPO4
    Predesigned siRNA for gene silencing in human, mouse, rat RSPO4
    Clone
    Products:
         
    OriGene clones in human, mouse for RSPO4 (see all 9)
    OriGene ORF clones in mouse, rat for RSPO4
    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 qPCR primer pairs and template standards for RSPO4
    OriGene qSTAR qPCR primer pairs in human, mouse for RSPO4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RSPO4
      QuantiTect SYBR Green Assays in human, mouse, rat RSPO4
      QuantiFast Probe-based Assays in human, mouse, rat RSPO4

    Additional mRNA sequence: 

    AK122609.1 DQ355152.1 

    3 DOTS entries:

    DT.97839035  DT.120838686  DT.120838681 

    21 AceView cDNA sequences:

    BM717748 BQ017185 BU508182 AI811035 BM673289 BQ185331 AA416863 BQ636829 
    BM681374 AA873081 BM682068 BM729141 BM996047 AK122609 BM674941 AA417143 
    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    RSPO4 expression in normal human tissues (normalized intensities)      RSPO4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGGAAACA
    RSPO4 Expression
    About this image


    RSPO4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)
             Stylopod Long Bone
     
     Eye (Sensory Organs)
     
     Spinal Cord (Nervous System)
    RSPO4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RSPO4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444980
        Custom PCR Arrays for RSPO4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RSPO4
    OriGene qSTAR qPCR primer pairs in human, mouse for RSPO4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RSPO4
    QuantiTect SYBR Green Assays in human, mouse, rat RSPO4
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for RSPO4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rspo41 , 5 R-spondin family, member 41, 5 81.14(n)1
    80.7(a)1
      2 (74.83 cM)5
    2287701  NM_001040689.11  NP_001035779.11 
     1518429275 
    chicken
    (Gallus gallus)
    Aves RSPO41 R-spondin 4 68.12(n)
    58.94(a)
      428155  XM_004947141.1  XP_004947198.1 
    lizard
    (Anolis carolinensis)
    Reptilia RSPO46
    R-spondin 4
    58(a)
    1 ↔ 1
    GL343346.1(493482-497561)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5708651 R-spondin-2-like 56.06(n)
    47.47(a)
      570865  XM_694390.3  XP_699482.3 


    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

    TryGeneCards Plus
    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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for RSPO4 (see all 1150)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0303994
    Nail disorder, non-syndromic congenital, 4 (NDNC4)4--see VAR_0303992 Q R mis40--------
    VAR_0304014
    Nail disorder, non-syndromic congenital, 4 (NDNC4)4--see VAR_0304012 C R mis40--------
    VAR_0304004
    Nail disorder, non-syndromic congenital, 4 (NDNC4)4--see VAR_0304002 C F mis40--------
    VAR_0304024
    Nail disorder, non-syndromic congenital, 4 (NDNC4)4--see VAR_0304022 C Y mis40--------
    rs743154221,2
    Cpathogenic1896387(-) GAAGTA/GTCTGC 4 Y C mis10--------
    rs743154211,2
    Cpathogenic1896421(-) TCCGGC/TGCAAG 4 R C mis10--------
    rs743154231,2
    Cpathogenic1897157(-) CGACTA/GTCCCC 4 Y C mis10--------
    rs743154201,2
    Cpathogenic1897181(-) CCGCCA/GGTACG 4 Q R mis10--------
    rs678848191,2
    C--887322(+) ACCCC-/TGGTCC 2 -- ds50011Minor allele frequency- T:0.00NA 2
    rs2006210811,2
    C--887375(+) AGGTGG/TCACCC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for RSPO4 (939095 - 982907 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for RSPO4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722043CNV Deletion23290073
    esv2722044CNV Deletion23290073
    esv2668964CNV Deletion23128226
    esv2722039CNV Deletion23290073
    esv2722042CNV Deletion23290073
    esv2722041CNV Deletion23290073
    nsv520121CNV Loss19592680
    nsv525407CNV Loss19592680
    esv274959CNV Loss21479260

    Human Gene Mutation Database (HGMD): RSPO4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 610573   
    OMIM disorders: 206800  
    UniProtKB/Swiss-Prot: RSPO4_HUMAN, Q2I0M5
  • Nail disorder, non-syndromic congenital, 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for RSPO4:    About MalaCards
    anonychia congenita    nail disease    nail-patella syndrome    palmoplantar keratosis
    keratosis    esophageal cancer    esophagitis    multiple myeloma
    myeloma

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

    RSPO4 for disorders           About GeneDecksing


    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

    TryGeneCards Plus

    PubMed articles for RSPO4 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with RSPO4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Nat. Genet. 2006)
    2. R-spondin proteins: a novel link to beta-catenin activation. (PubMed id 16357527)1, 2 Kim K.-A.... Funk W.D. (Cell Cycle 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. (Anal. Chem. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 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 BrA1chle N.O....Bergmann C. (J. Invest. Dermatol. 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. (Am. J. Hum. Genet. 2006)
    8. Reconstitution of R-spondin:LGR4:ZNRF3 adult stem cell growth factor signaling complexes with recombinant proteins produced in Escherichia coli. (PubMed id 24050775)1 Moad H.E. and Pioszak A.A. (Biochemistry 2013)
    9. A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family. (PubMed id 22300369)1 Wasif N. and Ahmad W. (Pediatr Dermatol 2013)
    10. Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). (PubMed id 23234511)1 Khan T.N....Dahl N. (BMC Med. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 343637 HGNC: 16175 AceView: LOC343637 Ensembl:ENSG00000101282 euGenes: HUgn343637
    ECgene: RSPO4 H-InvDB: RSPO4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for RSPO4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RSPO4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for RSPO4 (R-Spondin 4)   Browse Cell Culture Products  
     ELISAs for RSPO4 (R-Spondin 4)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for RSPO4 (R-Spondin 4)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for RSPO4  
     OriGene qPCR primer pairs and template standards for RSPO4   OriGene Protein Over-expression Lysate for RSPO4  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RSPO4  
     OriGene qSTAR qPCR primer pairs in human, mouse for RSPO4   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for RSPO4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RSPO4   OriGene Custom Protein Services for RSPO4  

     
     
     Block miRNA regulation of human, mouse, rat RSPO4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RSPO4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RSPO4 Predesigned siRNA for gene silencing in human, mouse, rat RSPO4
     QuantiFast Probe-based Assays in human, mouse, rat RSPO4 QuantiTect SYBR Green Assays in human, mouse, rat RSPO4
     Custom PCR Arrays for RSPO4 Search Chromatin IP Primers for RSPO4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RSPO4  Search GeneGlobe Interaction Network for RSPO4
     Regulatory tfbs in RSPO4 promoter
     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 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

     Search Tocris compounds for RSPO4
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for RSPO4
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RSPO4 antibodies
     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
     Proteins for RSPO4
     Antibodies for RSPO4
     ELISAs for RSPO4
     CLIAs for RSPO4



     Browse ESI BIO Cell Lines and PureStem Progenitors 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: Let us create your new Knockout/Knockin mouse model for RSPO4
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RSPO4
     LSBio Antibodies in human, mouse, rat for RSPO4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4