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RIPK4 Gene

protein-coding   GIFtS: 58
GCID: GC21M043159

Receptor-Interacting Serine-Threonine Kinase 4

(Previous name: ankyrin repeat domain 3)
(Previous symbol: ANKRD3)
  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)
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Aliases
Receptor-Interacting Serine-Threonine Kinase 41 2     PPS22 5
ANKRD31 2 3     Ankyrin Repeat Domain 31
PKC-Delta-Interacting Protein Kinase1 2 3     ANKK22
DIK2 3 5     PKK2
Protein Kinase C-Associated Kinase1 2     RIP42
Ankyrin Repeat Domain-Containing Protein 32 3     Receptor-Interacting Serine/Threonine-Protein Kinase 42
EC 2.7.11.13 8     Serine/Threonine-Protein Kinase ANKRD32
NKRD32 5     EC 2.7.118

External Ids:    HGNC: 4961   Entrez Gene: 541012   Ensembl: ENSG000001834217   OMIM: 6057065   UniProtKB: P570783   

Export aliases for RIPK4 gene to outside databases

Previous GC identifers: GC00U917001 GC21M042032 GC21M028579


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RIPK4 Gene:
The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta.
The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase
undergoes autophosphorylation. (provided by RefSeq, Jul 2008)

GeneCards Summary for RIPK4 Gene:
RIPK4 (receptor-interacting serine-threonine kinase 4) is a protein-coding gene. Diseases associated with RIPK4 include tetanus neonatorum, and severe nonproliferative diabetic retinopathy. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is RIPK3.

UniProtKB/Swiss-Prot: RIPK4_HUMAN, P57078
Function: Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a
role in NF-kappa-B activation

Gene Wiki entry for RIPK4 Gene


(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)
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RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the RIPK4 gene promoter:
         Max1   RP58   AML1a   Lmo2   Nkx2-5   AP-2gamma   CREB   CP2   deltaCREB   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRIPK4 promoter sequence
   Search Chromatin IP Primers for RIPK4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RIPK4


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3

RIPK4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIPK4 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M043159:  view genomic region     (about GC identifiers)

Start:
43,159,529 bp from pter      End:
43,187,266 bp from pter
Size:
27,738 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.)
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UniProtKB/Swiss-Prot: RIPK4_HUMAN, P57078 (See protein sequence)
Recommended Name: Receptor-interacting serine/threonine-protein kinase 4  
Size: 832 amino acids; 91611 Da
Subunit: Interacts with PRKCB (By similarity). Interacts with TRAF1, TRAF2, TRAF3 and TRAF5. Interacts with
BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4
Secondary accessions: Q96KH0
Alternative splicing: 2 isoforms:  P57078-1   P57078-2   

Explore the universe of human proteins at neXtProt for RIPK4: NX_P57078

Explore proteomics data for RIPK4 at MOPED

Post-translational modifications: 

  • May be phosphorylated by MAP3K2 and MAP3K3 (By similarity)1
  • Proteolytically cleaved by during Fas-induced apoptosis. Cleavage at Asp-388 and Asp-4261
  • Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation
    of NF-kappa-B1
  • Ubiquitination2 at Lys51, Lys145
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for RIPK4 (P57078)
     LHLDLKP  HLDLKPAN 


    See RIPK4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065690.2  
    ENSEMBL proteins: 
     ENSP00000332454   ENSP00000330161   ENSP00000441754   ENSP00000442901  

    RIPK4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: receptor-interacting serine-threonine kinase 4
    Receptor interacting protein kinase (RIPK) family

    Selected InterPro protein domains (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry P57078

    ProtoNet protein and cluster: P57078

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: RIPK4_HUMAN, P57078
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family
    Similarity: Contains 10 ANK repeats
    Similarity: Contains 1 protein kinase domain


    RIPK4 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIPK4_HUMAN, P57078
    Function: Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a
    role in NF-kappa-B activation
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    RIPK4 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for RIPK4:
     Decreased substrate adherent c  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Increased colony dispersion (i 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ripk4):
     cellular  craniofacial  digestive/alimentary  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  respiratory system 

    RIPK4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ripk4tm1Pmh for RIPK4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RIPK4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RIPK4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RIPK4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RIPK4

    miRNA
    Products:
        
    miRTarBase miRNAs that target RIPK4:
    hsa-mir-26b-5p (MIRT029009), hsa-mir-124-3p (MIRT022302)

    Block miRNA regulation of human, mouse, rat RIPK4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RIPK4 (see all 9):
    hsa-miR-103b hsa-miR-130a* hsa-miR-575 hsa-miR-23c hsa-miR-23b hsa-miR-889 hsa-miR-489 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidRIPK4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RIPK4
    Predesigned siRNA for gene silencing in human, mouse, rat RIPK4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for RIPK4

    Clone
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    OriGene clones in human, mouse for RIPK4 (see all 7)
    OriGene ORF clones in mouse, rat for RIPK4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RIPK4 (NM_020639)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RIPK4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIPK4

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RIPK4
    Browse ESI BIO Cell Lines and PureStem Progenitors for RIPK4 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIPK4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RIPK4_HUMAN, P57078: Cytoplasm. Membrane; Peripheral membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    cytoskeleton2
    extracellular2
    plasma membrane2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm ISS--
    GO:0016020membrane IEA--

    RIPK4 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).
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    SuperPaths for RIPK4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    2NF-kappaB Signaling
    NF-kappaB Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for RIPK4
        Wnt / Hedgehog / Notch
    NF-kappaB Signaling



    RIPK4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RIPK4
    Interactions:

        GeneGlobe Interaction Network for RIPK4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for RIPK4 (P570781, 3 ENSP000003324544) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BIRC2Q134901, ENSP000002277584EBI-4422308,EBI-514538 STRING: ENSP00000227758
    XIAPP981701, ENSP000003478584EBI-4422308,EBI-517127 STRING: ENSP00000347858
    BIRC3Q134891, ENSP000002634644EBI-4422308,EBI-517709 STRING: ENSP00000263464
    TRAF1Q130773I2D: score=1 
    TRAF2Q129333I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002009morphogenesis of an epithelium IMP--
    GO:0006468protein phosphorylation ----
    GO:0051092positive regulation of NF-kappaB transcription factor activity IMP--

    RIPK4 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RIPK4

    3 Novoseek inferred chemical compound relationships for RIPK4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 63.6 2 8856132 (1)
    heparin 16.1 2 7569739 (1), 8933290 (1)
    serine 11.8 4 12091384 (1), 16256200 (1)



    RIPK4 for compounds           About GeneDecksing



    (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 )
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    REFSEQ mRNAs for RIPK4 gene: 
    NM_020639.2  

    Unigene Cluster for RIPK4:

    Receptor-interacting serine-threonine kinase 4
    Hs.517310  [show with all ESTs]
    Unigene Representative Sequence: NM_020639
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332512(uc002yzn.1) ENST00000352483 ENST00000544709 ENST00000542057

    miRNA
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    Block miRNA regulation of human, mouse, rat RIPK4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RIPK4 (see all 9):
    hsa-miR-103b hsa-miR-130a* hsa-miR-575 hsa-miR-23c hsa-miR-23b hsa-miR-889 hsa-miR-489 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidRIPK4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RIPK4
    Predesigned siRNA for gene silencing in human, mouse, rat RIPK4
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RIPK4 (NM_020639)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIPK4
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RIPK4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RIPK4
      QuantiTect SYBR Green Assays in human, mouse, rat RIPK4
      QuantiFast Probe-based Assays in human, mouse, rat RIPK4

    Additional mRNA sequence: 

    AB047783.1 AF308292.1 AJ278016.1 AK027424.1 AK296685.1 AK302592.1 AK316412.1 AL137448.1 
    BC035755.1 BC110617.1 BC110618.1 

    4 DOTS entries:

    DT.109841  DT.95265905  DT.91723205  DT.95265906 

    Selected AceView cDNA sequences (see all 66):

    BM980861 AI061211 NM_020639 AA932836 AI308062 BC035755 BE350899 W72972 
    BM850058 AI279596 CB116630 AI620860 BM675971 BM782022 BM924233 AW189426 
    CD630274 AB047783 W37838 BE326278 BI868794 BI868710 BM823971 AW129556 

    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)
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    RIPK4 expression in normal human tissues (normalized intensities)      RIPK4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RIPK4 Expression
    About this image


    RIPK4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 2 entries
             Notochord Cells Notochord
             Notochord
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    RIPK4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RIPK4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517310
        Custom PCR Arrays for RIPK4
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIPK4

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RIPK4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ripk41 , 5 receptor-interacting serine-threonine kinase 41, 5 84.91(n)1
    90.69(a)1
      16 (57.63 cM)5
    723881  NM_023663.61  NP_076152.21 
     977419335 
    chicken
    (Gallus gallus)
    Aves RIPK41 receptor-interacting serine-threonine kinase 4 72.61(n)
    77.52(a)
      418529  XM_416738.3  XP_416738.3 
    lizard
    (Anolis carolinensis)
    Reptilia RIPK46
    receptor-interacting serine-threonine kinase 4
    75(a)
    1 ↔ 1
    3(138237713-138270799)
    African clawed frog
    (Xenopus laevis)
    Amphibia ankrd3-prov2 ankyrin repeat domain 3 75.26(n)    BC043634.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.188392 Danio rerio protein kinase PKK (pkk) mRNA, complete more 73.96(n)    BC045432.1 


    ENSEMBL Gene Tree for RIPK4 (if available)
    TreeFam Gene Tree for RIPK4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for RIPK4 gene
    RIPK32  RIPK12  RIPK22  ANKK12  
    14 SIMAP similar genes for RIPK4 using alignment to 3 protein entries:     RIPK4_HUMAN (see all proteins):
    DKFZp434B2328    dik    ANKDD1A    PSMD10    DKFZp761E1322    MTPN
    PPP1R12B    NRARP    tec    ANKRD29    GABPB1    ANKK1
    CDKN2C    IkBa

    RIPK4 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)
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    Selected SNPs for RIPK4 (see all 847)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673314
    Popliteal pterygium syndrome, lethal type (PPS-L)4--see VAR_0673312 I N mis40--------
    VAR_0673334
    Popliteal pterygium syndrome, lethal type (PPS-L)4--see VAR_0673332 T I mis40--------
    VAR_0673324
    Popliteal pterygium syndrome, lethal type (PPS-L)4--see VAR_0673322 I N mis40--------
    rs3684359391,2
    C--28602866(+) TATCA-/ATTTTTTA 1 -- cds10--------
    rs124820451,2
    C,F,H--33659997(+) TCTTGT/CTTTTA 1 -- ds500120Minor allele frequency- C:0.08NS EA NA 2360
    rs1872002241,2
    --33660016(+) ACAGGA/CAAGTA 1 -- ds50010--------
    rs791109331,2
    C--33660060(+) ACTCTC/TGAACA 1 -- ds50010--------
    rs1468502481,2
    C--33660064(+) CGAAC-/AGGT  
            
    AGGTA
    1 -- ds50010--------
    rs1476760111,2
    --33660149(+) CTATGG/TACTAC 1 -- ds50010--------
    rs1815961211,2
    --33660163(+) TGTCAC/GTTTTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for RIPK4 (43159529 - 43187266 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RIPK4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv459265CNV Loss19166990
    nsv913760CNV Loss21882294
    nsv913766CNV Gain21882294
    dgv4743n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): RIPK4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RIPK4
    DNA2.0 Custom Variant and Variant Library Synthesis for RIPK4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605706   
    OMIM disorders: 263650  
    UniProtKB/Swiss-Prot: RIPK4_HUMAN, P57078
  • Popliteal pterygium syndrome, lethal type (PPS-L) [MIM:263650]: An autosomal recessive disorder
    characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum,
    filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet,
    digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and
    eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is
    common, although survival into childhood and beyond has been reported. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for RIPK4 (see all 26):    About MalaCards
    tetanus neonatorum    severe nonproliferative diabetic retinopathy    popliteal pterygium syndrome 2, lethal type    popliteal pterygium syndrome lethal type
    mesenteric lymphadenitis    clear cell adenoma    lymphadenitis    popliteal pterygium syndrome
    tetanus    pterygium    blepharophimosis    synostosis
    syndactyly    gout    diffuse large b-cell lymphoma    b-cell lymphomas
    acute pancreatitis    cleft lip    graves' disease    diabetic retinopathy

    1 disease from the University of Copenhagen DISEASES database for RIPK4:
    Severe nonproliferative diabetic retinopathy

    RIPK4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for RIPK4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 23.6 5 12091384 (1), 17039240 (1), 18025152 (1)
    tumors 0 6 18025152 (2), 12091384 (1), 17039240 (1)

    Genetic Association Database (GAD): RIPK4
    Human Genome Epidemiology (HuGE) Navigator: RIPK4 (1 document)

    Export disorders for RIPK4 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 RIPK4 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with RIPK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2, 3 Hattori M.... Yaspo M.-L. (Nature 2000)
    2. RIP4 (DIK/PKK), a novel member of the RIP kinase family, activates NF-kappa B and is processed during apoptosis. (PubMed id 12446564)1, 2, 9 Meylan E.... Tschopp J. (EMBO Rep. 2002)
    3. Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. (PubMed id 22197488)1, 2 Mitchell K.... Dixon M.J. (Am. J. Hum. Genet. 2012)
    4. cIAP1/2 are direct E3 ligases conjugating diverse types of ubiquitin chains to receptor interacting proteins kinases 1 to 4 (RIP1-4). (PubMed id 21931591)1, 2 Bertrand M.J.... Vandenabeele P. (PLoS ONE 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Protein kinase C-associated kinase (PKK), a novel membrane-associated, ankyrin repeat-containing protein kinase. (PubMed id 11278382)1, 9 Chen L....Pillai S. (J. Biol. Chem. 2001)
    7. Protein kinase C-associated kinase can activate NFkappaB in both a kinase-dependent and a kinase-independent manner. (PubMed id 12676934)1, 9 Moran S.T....Pillai S. (J. Biol. Chem. 2003)
    8. Regulation of NF-kappaB activity and keratinocyte differentiation by the RIP4 protein: implications for cutaneous wound repair. (PubMed id 17039240)1, 9 Adams S....Munz B. (J. Invest. Dermatol. 2007)
    9. Protein kinase C-associated kinase is required for NF-kappaB signaling and survival in diffuse large B-cell lymphoma cells. (PubMed id 18025152)1, 9 Kim S.W....Zhao J. (Blood 2008)
    10. Phosphorylation of Dishevelled by protein kinase RIPK4 regulates Wnt signaling. (PubMed id 23371553)1 Huang X....Dixit V.M. (Science 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 54101 HGNC: 496 AceView: RIPK4 Ensembl:ENSG00000183421 euGenes: HUgn54101
    ECgene: RIPK4 H-InvDB: RIPK4

    (According to HUGE)
    About This Section

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      --

    (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

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    NameDescription
    PharmGKB entry for RIPK4 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for RIPK4 gene:
    Search GeneIP for patents involving RIPK4

    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
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