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Ripk4
Gene Detail
Symbol

Name
ID
Ripk4
receptor-interacting serine-threonine kinase 4
MGI:1919638
Synonyms
ANKK2, Ankrd3, DIk, PKK, RIP4
Feature Type
protein coding gene
Genetic Map
Chromosome 16
57.63 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr16:97741933-97763737 bp, - strand
From VEGA annotation of GRCm38

  21805 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10772  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: RIPK4
Gene Tree: Ripk4

Human
homologs
RIPK4, receptor-interacting serine-threonine kinase 4
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 54101
neXtProt AC: NX_P57078

Human Synonyms: ANKK2, ANKRD3, DIK, NKRD3, PKK, PPS2, RIP4

Human Chr (Location): 21q22.3; chr21:41739369-41767089 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human RIPK4

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis.
 
Human Diseases Modeled in Mice Using Ripk4 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ripk4 interacts with 150 markers (Mir7-2, Mir7b, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process morphogenesis of an epithelium, phosphorylation, ...
Component cytoplasm, membrane, ...
Function ATP binding, kinase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (255)    Tissues (116)    Images (36)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 239
RT-PCR 16
cDNA source data(38)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ripk4 ; ZFIN ripk4    NEW 
Molecular
reagents
All nucleic(41) cDNA(39) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000019977 (Evidence)
Ensembl Gene Model ENSMUSG00000005251 (Evidence)
Entrez Gene 72388 (Evidence)
UniGene 35290
DFCI TC1578135
DoTS DT.101166768, DT.40155483
NIA Mouse Gene Index U037351
EC 2.7.11.1
Consensus CDS Project CCDS28360.1
International Mouse Phenotyping Consortium Status Ripk4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019977 VEGA Gene Model | MGI Sequence Detail 21805 C57BL/6J ±  kb
transcript OTTMUST00000047608 VEGA | MGI Sequence Detail 3541 Not Applicable 
polypeptide OTTMUSP00000021567 VEGA | MGI Sequence Detail 786 Not Applicable 

For the selected sequences
All sequences(34) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(53 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR008271 Serine/threonine-protein kinase, active site
Protein Ontology PR:000014025 receptor-interacting serine/threonine-protein kinase 4
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:191507 Kalay E, et al., Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. Am J Hum Genet. 2012 Jan 13;90(1):76-85
All references(48)
Disease annotation references (2)
Other
accession IDs
MGI:2146458

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory