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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:97543133-97564979 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 57.63 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    416 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919638
 protein coding gene Chr16:97543133-97564987 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023093
 protein coding gene Chr16:99196025-99218888 (-)
A/J MGP_AJ_G0023061
 protein coding gene Chr16:94513992-94535733 (-)
AKR/J MGP_AKRJ_G0023031
 protein coding gene Chr16:97435174-97458578 (-)
BALB/cJ MGP_BALBcJ_G0023063
 protein coding gene Chr16:95061906-95082802 (-)
C3H/HeJ MGP_C3HHeJ_G0022824
 protein coding gene Chr16:97947348-97969163 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023510
 protein coding gene Chr16:102291555-102314495 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021011
 protein coding gene Chr16:92343753-92365318 (-)
CAST/EiJ MGP_CASTEiJ_G0022344
 protein coding gene Chr16:98761836-98784892 (-)
CBA/J MGP_CBAJ_G0022793
 protein coding gene Chr16:106737168-106761925 (-)
DBA/2J MGP_DBA2J_G0022927
 protein coding gene Chr16:94374768-94396521 (-)
FVB/NJ MGP_FVBNJ_G0022901
 protein coding gene Chr16:93534349-93554961 (-)
LP/J MGP_LPJ_G0022997
 protein coding gene Chr16:98846905-98867554 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022922
 protein coding gene Chr16:110882700-110904405 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023528
 protein coding gene Chr16:97966859-97988871 (-)
PWK/PhJ MGP_PWKPhJ_G0022088
 protein coding gene Chr16:94708691-94730823 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021918
 protein coding gene Chr16:97467319-97489028 (-)
WSB/EiJ MGP_WSBEiJ_G0022394
 protein coding gene Chr16:98241909-98264765 (-)



Homology
more
  • Human Ortholog
    RIPK4, receptor interacting serine/threonine kinase 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RIPK4, receptor interacting serine/threonine kinase 4
  • Synonyms
    ANKK2, ANKRD3, CHANDS, DIK, NKRD3, PKK, PPS2, RIP4
  • Links
    NCBI Gene ID: 54101
    UniProt: P57078

  • Chr Location
    21q22.3; chr21:41739369-41767089 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ripk4 mouse models

Human Disease Mouse Models
      
IDs
 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
less
  • Phenotype Summary
    34 phenotypes from 2 alleles in 3 genetic backgrounds
    24 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.
Mutations in this gene result in perinatal lethality, impaired keratinocyte differentiation, impaired skin barrier function, cleft palate and and epithelial fusion phenotypes associated with abnormal periderm development. Homozygous mutant mice lack oral, anal, and nasal openings and display shorter limbs and tail that are partially fused to the body cavity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    976
  • Tissues
    124
  • cDNA Data
    40
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72388 NCBI Gene Model | MGI Sequence Detail 21847 C57BL/6J ±  kb
    transcript NM_023663 RefSeq | MGI Sequence Detail 3583 C57BL/6  
    polypeptide Q9ERK0 UniProt | EBI | MGI Sequence Detail 786 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 41
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2146458
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 14
      Diseases 2
      Gene Ontology 10
      Phenotypes 24
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory