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

RIPK4 Gene

protein-coding   GIFtS: 57
GCID: GC21M043159

Receptor-Interacting Serine-Threonine Kinase 4

(Previous name: ankyrin repeat domain 3)
(Previous symbol: ANKRD3)
  See related diseases
at
MalaCards
 

Aliases
for RIPK4 gene

(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
Receptor-Interacting Serine-Threonine Kinase 41 2     ANKK22
ANKRD31 2 3 5     NKRD32
PKC-Delta-Interacting Protein Kinase1 2 3     PKK2
DIK2 3 5     PPS22
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
Ankyrin Repeat Domain 31     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


Summaries
for RIPK4 gene

(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 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 lymphadenitis, and tetanus neonatorum. GO annotations related to this gene include protein serine/threonine kinase activity and ATP binding. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011515.12  
Regulatory elements:
   SABiosciences 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 plasmid: RIPK4 promoter sequence
   Search SABiosciences Chromatin IP Primers for RIPK4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for RIPK4 gene

(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: 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
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein (By similarity)
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:

  • UniProtKB: May be phosphorylated by MAP3K2 and MAP3K3 (By similarity)
  • UniProtKB: Proteolytically cleaved by during Fas-induced apoptosis. Cleavage at Asp-388 and Asp-426
  • UniProtKB: Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation
    of NF-kappa-B
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P57078

    • 2 DME Specific Peptides for RIPK4 (P57078)
     LHLDLKP  HLDLKPAN 

    RIPK4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RIPK4 Protein Expression
    REFSEQ proteins: NP_065690.2  
    ENSEMBL proteins: 
     ENSP00000332454   ENSP00000330161   ENSP00000441754   ENSP00000442901  

    Human Recombinant Protein Products for RIPK4: 
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    Novus Biologicals RIPK4 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RIPK4 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    RIPK4 for ontologies           About GeneDecksing



    RIPK4 Antibody Products: 
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    Abcam antibodies for RIPK4
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    LSBio Antibodies in human, mouse, rat for RIPK4 

    Assay Products for RIPK4: 
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    Cloud-Clone Corp. ELISAs for RIPK4 
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    Protein Domains /
    Families
    for RIPK4 gene

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

    5/6 InterPro protein domains (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_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


    Function
    for RIPK4 gene

    (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: 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): 5/6 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for RIPK4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/9 QIAGEN miScript miRNA 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 plasmid: RIPK4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RIPK4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RIPK4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for RIPK4
    Sirion Biotech Customized adenovirus for overexpression of RIPK4

    Clone
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    OriGene clones in human, mouse for RIPK4 (see all 6)
    OriGene ORF clones in mouse, rat for RIPK4
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                         Customized lentivirus expression plasmids for stable overexpression of RIPK4 

    Cell Line
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    Search LifeMap BioReagents cell lines for RIPK4
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIPK4


    Pathways & Interactions
    for RIPK4 gene

    (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 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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RIPK4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/14 Interacting proteins for RIPK4 (P570781, 3 ENSP000003324544) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002009morphogenesis of an epithelium IMP--
    GO:0006468protein phosphorylation ----

    RIPK4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RIPK4 gene

    (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

    RIPK4 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about RIPK4

    Transcripts
    for RIPK4 gene

    (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 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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    8/9 QIAGEN miScript miRNA 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 plasmid: RIPK4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RIPK4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RIPK4
    Clone
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    OriGene ORF clones in mouse, rat for RIPK4
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    GenScript: all cDNA clones in your preferred vector: RIPK4 (NM_020639)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RIPK4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIPK4
    Sirion Biotech Customized lentivirus for stable overexpression of RIPK4 
                         Customized lentivirus expression plasmids for stable overexpression of RIPK4 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RIPK4
      QIAGEN 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 

    24/66 AceView cDNA sequences (see all 66):

    AI279596 CB116630 BM850058 AI620860 BE350899 AI061211 NM_020639 AI308062 
    BM980861 BC035755 W72972 BM675971 AA932836 AK027424 AW129556 BG742266 
    BM823971 BX116669 BM712444 AW189426 BI868710 BM924233 BM981614 BI868794 

    GeneLoc Exon Structure


    Expression
    for RIPK4 gene

    (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

    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 
     5/18 selected tissues (see all 18) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Epithalamus
             brain/midbrain   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Notochord Cells Notochord
             fetal cartilage   
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 2 entries
             Notochord Cells Notochord
             Notochord

    See RIPK4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RIPK4

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

    (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 RIPK4 gene from 5/13 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 72.71(n)
    77.71(a)    		   418529  XM_416738.2  XP_416738.2 
    lizard
    (Anolis carolinensis)    		 Reptilia RIPK46
    		 Uncharacterized protein
    		 74(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
    for RIPK4 gene

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



    Genomic Variants
    for RIPK4 gene

    (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

    10/847 SNPs in RIPK4 are shown (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--------
    VAR_0410534
    		----see VAR_0410532 R H mis40--------
    VAR_0410504
    		----see VAR_0410502 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--------

    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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RIPK4
    DNA2.0 Custom Variant and Variant Library Synthesis for RIPK4

    Disorders / Diseases
    for RIPK4 gene

    (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.)
    About This Section
    		 OMIM gene information: 605706    OMIM disorders: --

    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

    • 20/21 diseases for RIPK4 (see all 21):    About MalaCards
    lymphadenitis    tetanus neonatorum    popliteal pterygium syndrome lethal type    mesenteric lymphadenitis
    clear cell adenoma    popliteal pterygium syndrome    pterygium    tetanus
    blepharophimosis    synostosis    gout    syndactyly
    diffuse large b-cell lymphoma    acute pancreatitis    b-cell lymphomas    graves' disease
    cleft lip    adenoma    pancreatitis    breast cancer

    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

    Publications
    for RIPK4 gene

    (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 RIPK4 gene, integrated from 9 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. (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. (2002)
    3. Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. (PubMed id 22197488)1, 2 Mitchell K.... Dixon M.J. (2012)
    4. cIAP1/2 are direct E3 ligases conjugating diverse typ es of ubiquitin chains to receptor interacting proteins kinases 1 to 4 (RIP1-4) . (PubMed id 21931591)1, 2 Bertrand M.J....Vandenabeele P. (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. (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. (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. (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. (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. (2008)
    10. Phosphorylation of Dishevelled by protein kinase RIPK4 regulates Wnt signaling. (PubMed id 23371553)1 Huang X....Dixit V.M. (2013)

    External Searches for RIPK4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RIPK4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54101 HGNC: 496 AceView: RIPK4 Ensembl:ENSG00000183421 euGenes: HUgn54101
    ECgene: RIPK4 H-InvDB: RIPK4

    Other Databases showing RIPK4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RIPK4 gene

    (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 RIPK4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for RIPK4 gene

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



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    About This Section

     
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