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

RSPO4 Gene

protein-coding   GIFtS: 51
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

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

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 nail disease, and anonychia congenita, and among its related super-pathways are Non-Canonical Wnt Pathway and Wnt signaling pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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). Interacts with LGR4, LGR5 and LGR6
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
(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:

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

  • RSPO4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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: 
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    Novus Biologicals RSPO4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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: 
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    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
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (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:
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    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate RSPO4 (see all 15):
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    SwitchGear 3'UTR luciferase reporter plasmidRSPO4 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    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, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RSPO4 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RSPO4
        Wnt Signaling Pathway


    2 Sino Biological Pathways for RSPO4 
        Canonical Wnt Pathway
    Non-Canonical Wnt 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, Ligands according to IUPHAR, 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 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
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    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:
         
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RSPO4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RSPO4
    Sirion Biotech Customized lentivirus for stable overexpression of RSPO4 
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    Primer
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    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 mRNA sequence: 

    AK122609.1 DQ355152.1 

    3 DOTS entries:

    DT.97839035  DT.120838686  DT.120838681 

    21 AceView cDNA sequences:

    BQ017185 BU508182 BQ185331 BM717748 BM673289 AA416863 AI811035 BM729141 
    BM682068 BM996047 BQ636829 AK122609 BM681374 BM674941 AA417143 AA873081 
    AA813185 AA992432 BQ188163 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)      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 
     5/5 selected tissues (see all 5) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Bone (Muscoskeletal System)
             Stylopod Long Bone
     
     Neural Tube (Nervous System)
             future brain/future forebrain/diencephalon   
     
     Eye (Sensory Organs)
     
     Spinal Cord (Nervous System)

    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
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    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 4/10 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 84.06(n)1
    84.21(a)1
      2 (74.83 cM)5
    2287701  NM_001040689.11  NP_001035779.11 
     1518429275 
    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
    Uncharacterized protein
    57(a)
    1 ↔ 1
    GL343346.1(493482-497561)
    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, 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) 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

    10/1150 SNPs in RSPO4 are shown (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
    SABiosciences Cancer Mutation 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
    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

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

    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)
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    PubMed articles for RSPO4 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with RSPO4)
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    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. (2006)
    2. R-spondin proteins: a novel link to beta-catenin activation. (PubMed id 16357527)1, 2 Kim K.-A.... Funk W.D. (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 nonsense mutation in RSPO4 gene underlies auto somal recessive congenital anonychia in a Pakistani family. (PubMed id 22300369)1 Wasif N. and Ahmad W. (2013)
    9. Novel missense mutation in the RSPO4 gene in congenita l hyponychia and evidence for a polymorphic initiation codon (p.M1I). (PubMed id 23234511)1 Khan T.N....Dahl N. (2012)
    10. LGR4 and LGR5 are R-spondin receptors mediating Wnt/beta-catenin and Wnt/PCP signalling. (PubMed id 21909076)2 Glinka A.... Niehrs C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 343637 HGNC: 16175 AceView: LOC343637 Ensembl:ENSG00000101282 euGenes: HUgn343637
    ECgene: RSPO4 H-InvDB: RSPO4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    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.)
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    Patent Information for RSPO4 gene:
    Search GeneIP for patents involving RSPO4

    GeneCards and IP:
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