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Ripk4 Gene Detail
Summary
  • Symbol
    Ripk4
  • Name
    receptor-interacting serine-threonine kinase 4
  • Synonyms
    ANKK2, Ankrd3, DIk, PKK, RIP4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919638
    NCBI Gene: 72388
  • Gene Overview
    MyGene.info: RIPK4
Location & Maps
more
  • Sequence Map
    Chr16:97741933-97763737 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21805 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 57.63 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    RIPK4, receptor interacting serine/threonine kinase 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RIPK4, receptor interacting serine/threonine kinase 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ANKK2, ANKRD3, DIK, NKRD3, PKK, PPS2, RIP4
  • Links
    NCBI Gene ID: 54101
    neXtProt AC: NX_P57078

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

  • HomoloGene
    Vertebrate Homology Class 10772
    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
Human Diseases
more
  • Diseases
    1 with Ripk4 mouse models; 1 with human RIPK4 associations

Human Disease Mouse Models
       Popliteal Pterygium Syndrome, Lethal Type   OMIM: 263650 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 2 alleles in 3 genetic backgrounds
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Targeted
    5
  • Genomic Mutations
    2 involving Ripk4
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    53 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000014025 receptor-interacting serine/threonine-protein kinase 4
  • EC
  • InterPro Domains
    IPR002110 Ankyrin repeat
    IPR020683 Ankyrin repeat-containing domain
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR008271 Serine/threonine-protein kinase, active site
    IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
Molecular
Reagents
less
  • All nucleic 41
    cDNA 39
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:2146458
References
more
  • Summaries
    All 45
    Developmental Gene Expression 8
    Diseases 2
    Gene Ontology 5
    Phenotypes 10
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory