RIPK4 Gene

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)
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Previous GC identifers: GC00U917001 GC21M042032 GC21M028579

Summaries
for RIPK4 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000021.8  NC_018932.2  NT_011512.12  

SwitchGear Promoter luciferase reporter plasmid: RIPK4 promoter sequence

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

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


GeneLoc information about chromosome 21         GeneLoc Exon Structure

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

Proteins
for RIPK4 gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for RIPK4: NX_P57078

Explore proteomics data for RIPK4 at MOPED

Post-translational modifications: 

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	antibodies-online proteins for RIPK4 (3 products)
	antibodies-online peptides for RIPK4

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	antibodies-online kits for RIPK4 (4 products)

Domains /
Families
for RIPK4 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P57078

Find genes that share domains with RIPK4           About GenesLikeMe

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, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Enzyme Numbers (IUBMB): EC 2.7.11.1^{1 2} EC 2.7.11²

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

(inferred from 2 alleles) (MGI details for Ripk4)

genOway: Develop your customized and physiologically relevant rodent model for RIPK4

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

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Gene Editing Products:

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		Addgene plasmids for RIPK4

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIPK4

Localization
for RIPK4 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	3
nucleus	3
cytoskeleton	2
extracellular	2
plasma membrane	2
endoplasmic reticulum	1
mitochondrion	1

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

Pathways & Interactions
for RIPK4 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for RIPK4 About     See pathways by source

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

2 Cell Signaling Technology (CST) Pathways for RIPK4

	Wnt / Hedgehog / Notch
	NF-kappaB Signaling

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

Drugs & Compounds
for RIPK4 gene

(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, Sets of similar genes according to GenesLikeMe)
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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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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 GenesLikeMe, 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

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

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIPK4

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)
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Paralogs
for RIPK4 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Find genes that share paralogs with RIPK4           About GenesLikeMe

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), 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 Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0673314		Popliteal pterygium syndrome, lethal type (PPS-L)4	--	see VAR_067331	2	I N	mis4		0	--	--	--	--
VAR_0673334		Popliteal pterygium syndrome, lethal type (PPS-L)4	--	see VAR_067333	2	T I	mis4		0	--	--	--	--
VAR_0673324		Popliteal pterygium syndrome, lethal type (PPS-L)4	--	see VAR_067332	2	I N	mis4		0	--	--	--	--
rs3684359391,2	C	--	28602866(+)	TATCA-/ATTTTTTA	1	--	cds1		0	--	--	--	--
rs124820451,2	C,F,H	--	33659997(+)	TCTTGT/CTTTTA	1	--	ds5001		20		NS EA NA	2360
rs1872002241,2		--	33660016(+)	ACAGGA/CAAGTA	1	--	ds5001		0	--	--	--	--
rs791109331,2	C	--	33660060(+)	ACTCTC/TGAACA	1	--	ds5001		0	--	--	--	--
rs1468502481,2	C	--	33660064(+)	CGAAC-/AGGT           AGGTA	1	--	ds5001		0	--	--	--	--
rs1476760111,2		--	33660149(+)	CTATGG/TACTAC	1	--	ds5001		0	--	--	--	--
rs1815961211,2		--	33660163(+)	TGTCAC/GTTTTC	1	--	ds5001		0	--	--	--	--

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

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for RIPK4:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv459265	CNV	Loss	19166990
nsv913760	CNV	Loss	21882294
nsv913766	CNV	Gain	21882294
dgv4743n71	CNV	Gain	21882294

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

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, Sets of similar genes according to GenesLikeMe)
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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

5 diseases for RIPK4:    
About MalaCards

2 Novoseek inferred disease relationships for RIPK4 gene    About this table

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)
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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)

External Searches for RIPK4 gene

Genome Databases showing RIPK4 gene

Other Databases showing RIPK4 gene

Specialized Databases showing RIPK4 gene

Products
for RIPK4 gene

(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, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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