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RIPK4 Gene(Protein Coding)

Receptor Interacting Serine/Threonine Kinase 4

GCID:
GC21M041739
GIFtS:
51
Genes Participants
UDN Logo

Aliases for RIPK4 Gene

Aliases for RIPK4 Gene

  • Receptor Interacting Serine/Threonine Kinase 4 2 3 5
  • PKC-Delta-Interacting Protein Kinase 2 3 4
  • Ankyrin Repeat Domain-Containing Protein 3 3 4
  • Protein Kinase C-Associated Kinase 2 3
  • EC 2.7.11.1 4 56
  • ANKRD3 3 4
  • DIK 3 4
  • Receptor-Interacting Serine/Threonine-Protein Kinase 4 3
  • Receptor-Interacting Serine-Threonine Kinase 4 2
  • Serine/Threonine-Protein Kinase ANKRD3 3
  • Ankyrin Repeat Domain 3 2
  • EC 2.7.11 56
  • ANKK2 3
  • NKRD3 3
  • PPS2 3
  • RIP4 3
  • PKK 3

External Ids for RIPK4 Gene

Previous HGNC Symbols for RIPK4 Gene

  • ANKRD3

Previous GeneCards Identifiers for RIPK4 Gene

  • GC00U917001
  • GC21M042032
  • GC21M043159
  • GC21M028579

Summaries for RIPK4 Gene

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 Popliteal Pterygium Syndrome, Lethal Type and Popliteal Pterygium Syndrome. Among its related pathways are Wnt / Hedgehog / Notch and NF-kappaB Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ANKK1.

UniProtKB/Swiss-Prot for RIPK4 Gene

  • 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

Additional gene information for RIPK4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIPK4 Gene

Genomics for RIPK4 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for RIPK4 Gene

Promoters and enhancers for RIPK4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH21I041760 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 557.3 +1.2 1163 10.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 FOS KLF13 RIPK4 LOC102724800 LINC00479 PRDM15 ENSG00000236883 LINC00112 ENSG00000227698 MX2 ZBTB21 MX1
GH21I041112 Enhancer 1.2 FANTOM5 Ensembl ENCODE 5.2 +653.6 653604 1.6 PKNOX1 NFIB NEUROD1 SIN3A RFX5 ZNF507 CTBP1 GATA3 ZNF362 MAZ BACE2 RIPK4 LINC00323 YRDCP3
GH21I041668 Enhancer 0.4 FANTOM5 dbSUPER 4.1 +98.1 98120 0.3 LOC105372813 RIPK4 GC21P041658 LINC00111
GH21I041751 Enhancer 1 ENCODE dbSUPER 0.4 +15.1 15104 1.9 PKNOX1 INSM2 KLF17 SIN3A ETS1 ZEB1 CEBPB ZEB2 ZNF488 TSHZ1 LINC00479 LINC00112 MIR6814 RIPK4
GH21I041752 Enhancer 1 ENCODE dbSUPER 0.4 +16.4 16410 0.2 FOXA2 INSM2 ARID4B RAD21 RARA ETS1 CREM THAP11 RXRA SP5 LINC00112 LINC00479 MIR6814 RIPK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RIPK4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RIPK4 gene promoter:

Genomic Locations for RIPK4 Gene

Genomic Locations for RIPK4 Gene
chr21:41,739,369-41,767,106
(GRCh38/hg38)
Size:
27,738 bases
Orientation:
Minus strand
chr21:43,159,529-43,187,266
(GRCh37/hg19)

Genomic View for RIPK4 Gene

Genes around RIPK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIPK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIPK4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RIPK4 Gene

Proteins for RIPK4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RIPK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57078-RIPK4_HUMAN
    Recommended name:
    Receptor-interacting serine/threonine-protein kinase 4
    Protein Accession:
    P57078
    Secondary Accessions:
    • Q96KH0

    Protein attributes for RIPK4 Gene

    Size:
    832 amino acids
    Molecular mass:
    91611 Da
    Quaternary structure:
    • Interacts with PRKCB (By similarity). Interacts with TRAF1, TRAF2, TRAF3 and TRAF5. Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4.

    Alternative splice isoforms for RIPK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIPK4 Gene

Protein Expression for RIPK4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for RIPK4 Gene

P57078:
  • LHLDLKP
  • HLDLKPAN

Post-translational modifications for RIPK4 Gene

  • May be phosphorylated by MAP3K2 and MAP3K3.
  • Polyubiquitinated with Lys-48 and Lys-63-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B.
  • Proteolytically cleaved by during Fas-induced apoptosis. Cleavage at Asp-388 and Asp-426.
  • Ubiquitination at isoforms=251 and Lys145

Other Protein References for RIPK4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RIPK4 Gene

Gene Families for RIPK4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for RIPK4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RIPK4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57078

UniProtKB/Swiss-Prot:

RIPK4_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
genes like me logo Genes that share domains with RIPK4: view

Function for RIPK4 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for RIPK4 Gene

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

Enzyme Numbers (IUBMB) for RIPK4 Gene

Phenotypes From GWAS Catalog for RIPK4 Gene

Gene Ontology (GO) - Molecular Function for RIPK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 21931591
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with RIPK4: view
genes like me logo Genes that share phenotypes with RIPK4: view

Human Phenotype Ontology for RIPK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RIPK4 Gene

MGI Knock Outs for RIPK4:

Animal Model Products

Clone Products

  • Addgene plasmids for RIPK4

No data available for Transcription Factor Targets and HOMER Transcription for RIPK4 Gene

Localization for RIPK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIPK4 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIPK4 gene
Compartment Confidence
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for RIPK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RIPK4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIPK4 Gene

Pathways & Interactions for RIPK4 Gene

genes like me logo Genes that share pathways with RIPK4: view

Pathways by source for RIPK4 Gene

2 Cell Signaling Technology pathways for RIPK4 Gene

Gene Ontology (GO) - Biological Process for RIPK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IMP 22197488
GO:0006468 protein phosphorylation IEA --
GO:0016310 phosphorylation IEA --
GO:0051092 positive regulation of NF-kappaB transcription factor activity IMP 21931591
genes like me logo Genes that share ontologies with RIPK4: view

No data available for SIGNOR curated interactions for RIPK4 Gene

Drugs & Compounds for RIPK4 Gene

Products:

  1. Drug

(2) Drugs for RIPK4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RIPK4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RIPK4: view

Transcripts for RIPK4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RIPK4 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RIPK4 Gene

Receptor-interacting serine-threonine kinase 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for RIPK4

Alternative Splicing Database (ASD) splice patterns (SP) for RIPK4 Gene

No ASD Table

Relevant External Links for RIPK4 Gene

GeneLoc Exon Structure for
RIPK4
ECgene alternative splicing isoforms for
RIPK4

Expression for RIPK4 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RIPK4 Gene

mRNA expression in normal human tissues for RIPK4 Gene
mRNA expression by GTEx for RIPK4 GenemRNA expression by BioGPS for RIPK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIPK4 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.0).

Protein differential expression in normal tissues from HIPED for RIPK4 Gene

This gene is overexpressed in Bone (36.5) and Urine (32.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RIPK4 Gene



Protein tissue co-expression partners for RIPK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of RIPK4 Gene:

RIPK4

SOURCE GeneReport for Unigene cluster for RIPK4 Gene:

Hs.517310

Evidence on tissue expression from TISSUES for RIPK4 Gene

  • Lung(4.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RIPK4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with RIPK4: view

No data available for mRNA Expression by UniProt/SwissProt for RIPK4 Gene

Orthologs for RIPK4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIPK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RIPK4 33 34
  • 98.94 (n)
cow
(Bos Taurus)
 Mammalia RIPK4 33 34
  • 86.65 (n)
dog
(Canis familiaris)
 Mammalia RIPK4 33 34
  • 86.58 (n)
mouse
(Mus musculus)
 Mammalia Ripk4 33 16 34
  • 84.91 (n)
rat
(Rattus norvegicus)
 Mammalia Ripk4 33
  • 84.86 (n)
oppossum
(Monodelphis domestica)
 Mammalia RIPK4 34
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RIPK4 34
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RIPK4 33 34
  • 72.61 (n)
lizard
(Anolis carolinensis)
 Reptilia RIPK4 34
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ripk4 33
  • 69.4 (n)
African clawed frog
(Xenopus laevis)
 Amphibia ankrd3-prov 33
zebrafish
(Danio rerio)
 Actinopterygii ripk4 33 34
  • 64.4 (n)
Dr.18839 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 29 (a)
 OneToOne
Species where no ortholog for RIPK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RIPK4 Gene

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

Paralogs for RIPK4 Gene

Paralogs for RIPK4 Gene

(14) SIMAP similar genes for RIPK4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RIPK4: view

Variants for RIPK4 Gene

Sequence variations from dbSNP and Humsavar for RIPK4 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs112292749 likely-benign, Popliteal pterygium syndrome 41,740,619(-) A/C 3_prime_UTR_variant
rs115041500 uncertain-significance, Popliteal pterygium syndrome 41,740,623(-) C/A/G/T 3_prime_UTR_variant
rs115461340 uncertain-significance, Popliteal pterygium syndrome 41,740,131(-) C/T 3_prime_UTR_variant
rs115885677 uncertain-significance, Popliteal pterygium syndrome 41,739,604(-) C/T 3_prime_UTR_variant
rs116160025 uncertain-significance, Popliteal pterygium syndrome 41,741,252(-) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for RIPK4 Gene

Variant ID Type Subtype PubMed ID
esv3893416 CNV gain 25118596
esv3893417 CNV gain 25118596
nsv1065094 CNV loss 25217958
nsv459265 CNV loss 19166990
nsv587562 CNV loss 21841781

Variation tolerance for RIPK4 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.80; 79.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIPK4 Gene

Human Gene Mutation Database (HGMD)
RIPK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIPK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPK4 Gene

Disorders for RIPK4 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RIPK4 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
popliteal pterygium syndrome, lethal type
  • bartsocas-papas syndrome; bps
popliteal pterygium syndrome
  • pps
mesenteric lymphadenitis
  • mesenteric adenitis
cocoon syndrome
  • fetal encasement syndrome
myiasis
  • infestation by fly larvae
- elite association - COSMIC cancer census association via MalaCards
Search RIPK4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RIPK4_HUMAN
  • 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. {ECO:0000269 PubMed:22197488, ECO:0000269 PubMed:22197489}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RIPK4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RIPK4: view

No data available for Genatlas for RIPK4 Gene

Publications for RIPK4 Gene

  1. RIP4 (DIK/PKK), a novel member of the RIP kinase family, activates NF-kappa B and is processed during apoptosis. (PMID: 12446564) Meylan E … Tschopp J (EMBO reports 2002) 3 4 22 58
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 2 3 4 58
  3. Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. (PMID: 22197488) Mitchell K … Dixon MJ (American journal of human genetics 2012) 3 4 58
  4. cIAP1/2 are direct E3 ligases conjugating diverse types of ubiquitin chains to receptor interacting proteins kinases 1 to 4 (RIP1-4). (PMID: 21931591) Bertrand MJ … Vandenabeele P (PloS one 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for RIPK4 Gene

  • Addgene plasmids for RIPK4

Sources for RIPK4 Gene

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