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

RIPK4 Gene

protein-coding   GIFtS: 53
GCID: GC21M043159

receptor-interacting serine-threonine kinase 4

(Previous name: ankyrin repeat domain 3 )
(Previous symbol: ANKRD3)
 Explore 18 diseases affiliated with
RIPK4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RIPK4    

Aliases
for RIPK4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Receptor-Interacting Serine-Threonine Kinase 41 2     EC 2.7.11.13 8
ANKRD31 2 3 5     Ankyrin Repeat Domain 31
DIK1 2 3 5     NKRD32
ANKK21 2     PPS22
PKK1 2     Protein Kinase C-Associated Kinase2
RIP41 2     Receptor-Interacting Serine/Threonine-Protein Kinase 42
Ankyrin Repeat Domain-Containing Protein 32 3     Serine/Threonine-Protein Kinase ANKRD32
PKC-Delta-Interacting Protein Kinase2 3     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:
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)

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


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57078

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

    RIPK4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn 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



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    Uscn ELISAs and CLIAs for RIPK4

    Protein Domains /
    Families
    for RIPK4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RIPK4 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry P57078

    ProtoNet protein and cluster: P57078

    1 Blocks protein family: 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


    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,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

    Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RIPK4
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RIPK4 (see all 7)
    OriGene shRNA RFP: RIPK4
    OriGene siRNA: RIPK4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RIPK4

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIPK4 

    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004872receptor activity ----
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--


    RIPK4 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Ripk4tm1Pmh for RIPK4
         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


    Pathways & Interactions
    for RIPK4 gene

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



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

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


    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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RIPK4
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RIPK4 (see all 7)
    OriGene shRNA RFP: RIPK4
    OriGene siRNA: RIPK4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RIPK4
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RIPK4 (see all 2)
    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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    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 cDNA 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 BC035755 AI061211 BE350899 BM675971 CB116630 AA932836 AI308062 
    BM850058 NM_020639 AI620860 W72972 BM980861 AB047783 AW129556 AJ278016 
    BG742266 AW472918 W37838 BM782022 CD630268 CD630276 AI912213 AW024966 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RIPK4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    KidneyRenal Collecting Duct SystemKidney
    KidneyRenal VesicleKidney
    LungTracheaLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    Posterior foregut-like cells (A scalable, suspensi...)

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

    SOURCE GeneReport for Unigene cluster: Hs.517310
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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 eukaryotes.

    Orthologs for RIPK4 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 74(a)
    		 1 ↔ 1
    		 3(138238135-138269784)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G490606
    AT5G655006
    (see all 21)    		 U-box domain-containing protein 32
    U-box domain-containing protein kinase family prot...
    (see all 21)    		 9(a)
    8(a)
    (see all 21)    		 many ↔ many
    many ↔ many
    (see all 21)    		 3(18186898-18191992)
    5(26181093-26183997)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 24)    		 expressed protein
    (see all 24)    		 9(a)
    9(a)
    (see all 24)    		 many ↔ many
    many ↔ many
    (see all 24)    		 2(6616308-6623374)
    3(17679010-17686993)


    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  
    15 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    PPP1R12A

    RIPK4 for paralogs           About GeneDecksing



    Genomic Variants
    for RIPK4 gene

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

    10/696 NCBI SNPs in RIPK4 are shown (see all 696)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs798250091,2
    		--28579153(+) AGAACG/ATAAGA 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1129023971,2
    		C,--28579783(+) AGAACC/TGCCCT 1 -- ut312Minor allele frequency- T:0.03CSA WA 120
    rs732169891,2
    		C,--28579873(+) ACTATA/CCCTAT 1 -- ut310--------
    rs764340221,2
    		--28579920(+) CGCAGG/CTGAGC 1 -- ut311Minor allele frequency- C:0.01WA 118
    rs171138771,2
    		C,F,--28580152(+) CATCTT/CAGGCA 1 -- ut31 ese34Minor allele frequency- C:0.06NA WA 258
    rs772579401,2
    		--28580185(+) TACCAC/TGTGGG 1 -- ut310--------
    rs1154613401,2
    		C,F,--28580193(+) GGGCAC/TGTGTG 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs171138791,2
    		C,F,H,--28580322(+) TCAAAG/TCCAAC 1 -- ut3111Minor allele frequency- T:0.07NA NS WA CSA 1056
    rs1138162741,2
    		C,--28580350(+) ATTTAG/CAGACT 1 -- ut312Minor allele frequency- C:0.05WA 120
    rs733696741,2
    		C,F,--28580625(+) GACCCA/GTTAGG 1 -- ut316Minor allele frequency- G:0.24WA CSA 129

    HapMap Linkage Disequilibrium report for RIPK4 (43159529 - 43187266 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RIPK4: --
    Human Gene Mutation Database (HGMD): RIPK4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RIPK4 for disorders           About GeneDecksing

    OMIM gene information: 605706    OMIM disorders: --

    UniProtKB/Swiss-Prot: RIPK4_HUMAN, P57078
  • Defects in RIPK4 are the cause of 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

    18 diseases for RIPK4:    About MalaCards
    diffuse large b-cell lymphoma    mesenteric lymphadenitis    tetanus neonatorum    b-cell lymphomas
    prekallikrein deficiency    lymphadenitis    tetanus    graves' disease
    acute pancreatitis    gout    breast cancer    pancreatitis
    neuronitis    popliteal pterygium syndrome    popliteal pterygium syndrome lethal type    pterygium
    blepharophimosis    papa syndrome

    2 diseases from the University of Copenhagen DISEASES database for RIPK4:
    Clear cell adenoma     Tetanus neonatorum

    2 Novoseek 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)

    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 33):
    (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. 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)
    6. 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)
    7. 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)
    8. 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)
    9. Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. (PubMed id 22197489)2 Kalay E....Akarsu N.A. (2012)
    10. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)

    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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