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 zebrafish

Gene Tree: Ripk4

Human homologs

Human Homolog		RIPK4, receptor-interacting serine-threonine kinase 4
NCBI Gene ID		54101
neXtProt AC		NX_P57078
Human Synonyms		ANKK2, ANKRD3, DIK, NKRD3, PKK, PPS2, RIP4
Human Chr (Location)		21q22.3; chr21:43159529-43187249 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human RIPK4

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

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 Using Mouse Ripk4 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (15 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)
Theiler Stages: 12, 13, 15, 17, 19, 20, 22, 23, 26, 28

Assay Type	Results
RNA in situ	239
RT-PCR	16

cDNA source data(38)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Ripk4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019977	VEGA Gene Model | MGI Sequence Detail	21805	C57BL/6J
transcript	OTTMUST00000047608	VEGA | MGI Sequence Detail	3541	Not Applicable
polypeptide	OTTMUSP00000021567	VEGA | MGI Sequence Detail	786	Not Applicable

All sequences(32) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(36 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(50)

Other accession IDs

MGI:2146458