RIPK2 (receptor interacting serine/threonine kinase 2) - Rat Genome Database

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Gene: RIPK2 (receptor interacting serine/threonine kinase 2) Homo sapiens
Analyze
Symbol: RIPK2
Name: receptor interacting serine/threonine kinase 2
RGD ID: 1319357
HGNC Page HGNC
Description: Exhibits several functions, including caspase binding activity; protein domain specific binding activity; and protein homodimerization activity. Involved in several processes, including pattern recognition receptor signaling pathway; positive regulation of cellular protein metabolic process; and regulation of gene expression. Localizes to several cellular components, including cytoskeleton; cytosol; and vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CARD-carrying kinase; CARD-containing IL-1 beta ICE-kinase; CARD-containing interleukin-1 beta-converting enzyme (ICE)-associated kinase; CARD-containing interleukin-1 beta-converting enzyme-associated kinase; CARD3; CARDIAK; CCK; GIG30; growth-inhibiting gene 30; receptor interacting protein 2; receptor-interacting protein (RIP)-like interacting caspase-like apoptosis regulatory protein (CLARP) kinase; receptor-interacting protein 2; receptor-interacting serine-threonine kinase 2; receptor-interacting serine/threonine-protein kinase 2; RICK; RIP-2; RIP-like-interacting CLARP kinase; RIP2; tyrosine-protein kinase RIPK2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl889,757,806 - 89,791,064 (+)EnsemblGRCh38hg38GRCh38
GRCh38889,757,816 - 89,791,064 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37890,770,044 - 90,803,292 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36890,839,110 - 90,872,433 (+)NCBINCBI36hg18NCBI36
Build 34890,839,172 - 90,872,432NCBI
Celera886,964,831 - 86,998,139 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef885,980,380 - 86,013,697 (+)NCBIHuRef
CHM1_1890,811,006 - 90,844,310 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6alpha-methylprednisolone  (EXP)
aconitine  (ISO)
all-trans-retinoic acid  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
capsaicin  (EXP)
cholesterol  (ISO)
cisplatin  (EXP,ISO)
cobalt atom  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
deoxynivalenol  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
etoposide  (EXP)
fipronil  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
lamivudine  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
metam  (ISO)
metformin  (EXP)
methotrexate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
Mitotane  (ISO)
N-acetyl-L-cysteine  (ISO)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
ochratoxin A  (EXP)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
paraquat  (EXP)
perfluorononanoic acid  (EXP)
phenethyl isothiocyanate  (ISO)
phenobarbital  (EXP)
pirinixic acid  (EXP,ISO)
piroxicam  (EXP)
prednisolone  (EXP)
propylparaben  (EXP)
quercetin  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sodium aurothiomalate  (EXP)
Soman  (ISO)
sulfasalazine  (EXP)
tert-butyl hydroperoxide  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
zidovudine  (EXP)
zinc oxide  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of cysteine-type endopeptidase activity  (IDA)
activation of JNKK activity  (IEA)
activation of JUN kinase activity  (IBA)
activation of MAPK activity  (TAS)
adaptive immune response  (IBA,ISS)
apoptotic process  (IEA)
cellular response to lipopolysaccharide  (ISO)
cellular response to lipoteichoic acid  (IEA,ISO)
cellular response to muramyl dipeptide  (IDA)
cellular response to peptidoglycan  (IEA,ISO)
defense response to Gram-positive bacterium  (IEA,ISO)
I-kappaB kinase/NF-kappaB signaling  (ISS)
inflammatory response  (TAS)
innate immune response  (IBA,IDA,ISS)
interleukin-1-mediated signaling pathway  (TAS)
JNK cascade  (TAS)
lipopolysaccharide-mediated signaling pathway  (IEA,ISO)
negative regulation of apoptotic process  (TAS)
nucleotide-binding oligomerization domain containing 1 signaling pathway  (IEA,ISO)
nucleotide-binding oligomerization domain containing 2 signaling pathway  (IDA,ISO)
nucleotide-binding oligomerization domain containing signaling pathway  (TAS)
peptidyl-tyrosine phosphorylation  (IEA)
phosphorylation  (IEA)
positive regulation of alpha-beta T cell proliferation  (IEA,ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of cell death  (IDA)
positive regulation of chemokine production  (IEA,ISO)
positive regulation of cytokine-mediated signaling pathway  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (IDA)
positive regulation of immature T cell proliferation  (IEA,ISO)
positive regulation of interferon-alpha production  (NAS)
positive regulation of interferon-beta production  (NAS)
positive regulation of interferon-gamma production  (IEA,ISO)
positive regulation of interleukin-1 beta production  (IDA)
positive regulation of interleukin-12 production  (NAS)
positive regulation of interleukin-2 production  (IEA,ISO)
positive regulation of interleukin-6 production  (IEA,ISO)
positive regulation of JNK cascade  (IEA,ISO)
positive regulation of NF-kappaB transcription factor activity  (IBA,IDA,IMP,ISO,TAS)
positive regulation of peptidyl-serine phosphorylation  (IDA)
positive regulation of peptidyl-threonine phosphorylation  (IDA)
positive regulation of peptidyl-tyrosine phosphorylation  (IDA)
positive regulation of protein binding  (IMP)
positive regulation of protein ubiquitination  (IMP,NAS)
positive regulation of stress-activated MAPK cascade  (ISO)
positive regulation of T-helper 1 cell differentiation  (IEA,ISO)
positive regulation of T-helper 1 type immune response  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (NAS)
positive regulation of tumor necrosis factor production  (IEA,ISO)
positive regulation of xenophagy  (IEA,ISO)
regulation of cysteine-type endopeptidase activity involved in apoptotic process  (ISO)
response to exogenous dsRNA  (IEA,ISO)
response to interleukin-1  (ISO)
response to interleukin-12  (IEA,ISO)
response to interleukin-18  (IEA,ISO)
signal transduction  (TAS)
T cell proliferation  (IEA,ISO)
T cell receptor signaling pathway  (ISO,ISS,TAS)
toll-like receptor 2 signaling pathway  (IDA)
toll-like receptor 4 signaling pathway  (IEA,ISO)

Cellular Component
cytoplasm  (IDA)
cytoskeleton  (IDA)
cytosol  (IDA,TAS)
protein-containing complex  (IDA,IMP)
vesicle  (IDA)

References

Additional References at PubMed
PMID:9575181   PMID:9642260   PMID:9705938   PMID:10224040   PMID:10329646   PMID:10559258   PMID:10719670   PMID:10880512   PMID:11087742   PMID:11432859   PMID:11487608   PMID:11536016  
PMID:11821383   PMID:11894097   PMID:11894098   PMID:12138198   PMID:12459189   PMID:12477932   PMID:12755636   PMID:12761501   PMID:12775719   PMID:12975309   PMID:14638696   PMID:14743216  
PMID:14744259   PMID:15276183   PMID:15383541   PMID:15489334   PMID:15620648   PMID:15657077   PMID:15691841   PMID:15761153   PMID:16189514   PMID:16344560   PMID:16354923   PMID:16418290  
PMID:16421571   PMID:16492792   PMID:16498402   PMID:16517750   PMID:16582588   PMID:16824733   PMID:16920334   PMID:16997282   PMID:17054981   PMID:17075290   PMID:17192257   PMID:17348859  
PMID:17353931   PMID:17355968   PMID:17468049   PMID:17851464   PMID:17947236   PMID:17965022   PMID:18029348   PMID:18079694   PMID:18329614   PMID:18359207   PMID:18426885   PMID:18566542  
PMID:19121870   PMID:19336552   PMID:19337385   PMID:19406482   PMID:19464198   PMID:19573080   PMID:19592251   PMID:19667203   PMID:19693652   PMID:19721713   PMID:19773279   PMID:19911254  
PMID:20018961   PMID:20025869   PMID:20125193   PMID:20645315   PMID:20800603   PMID:20949042   PMID:21048031   PMID:21097508   PMID:21123652   PMID:21757725   PMID:21862576   PMID:21873635  
PMID:21887730   PMID:21903422   PMID:21931591   PMID:21931826   PMID:22075569   PMID:22412986   PMID:22484241   PMID:22504414   PMID:22547678   PMID:22607974   PMID:22615316   PMID:22658674  
PMID:22665475   PMID:22685397   PMID:22815893   PMID:22828789   PMID:22829933   PMID:22993319   PMID:23128233   PMID:23300079   PMID:23333941   PMID:23437331   PMID:23455924   PMID:23806334  
PMID:23818254   PMID:23892723   PMID:24015287   PMID:24366254   PMID:24642040   PMID:24658576   PMID:24670424   PMID:24746552   PMID:24790089   PMID:24958724   PMID:25374171   PMID:25416956  
PMID:25642632   PMID:26040030   PMID:26130752   PMID:26297639   PMID:26463597   PMID:26466644   PMID:26638075   PMID:26646181   PMID:26670046   PMID:26871637   PMID:27045108   PMID:27122187  
PMID:27545878   PMID:27591049   PMID:27651416   PMID:27812135   PMID:27830463   PMID:27939575   PMID:28114344   PMID:28436939   PMID:28545134   PMID:28656966   PMID:29053956   PMID:29421659  
PMID:29452636   PMID:29659823   PMID:29693188   PMID:29997244   PMID:30026309   PMID:30052281   PMID:30088101   PMID:30279485   PMID:30332343   PMID:30478312   PMID:31044631   PMID:31279003  
PMID:31350258   PMID:31515488   PMID:31903123   PMID:32041789   PMID:32296183   PMID:33204717  


Genomics

Comparative Map Data
RIPK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl889,757,806 - 89,791,064 (+)EnsemblGRCh38hg38GRCh38
GRCh38889,757,816 - 89,791,064 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37890,770,044 - 90,803,292 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36890,839,110 - 90,872,433 (+)NCBINCBI36hg18NCBI36
Build 34890,839,172 - 90,872,432NCBI
Celera886,964,831 - 86,998,139 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef885,980,380 - 86,013,697 (+)NCBIHuRef
CHM1_1890,811,006 - 90,844,310 (+)NCBICHM1_1
Ripk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39416,122,740 - 16,163,674 (-)NCBIGRCm39mm39
GRCm39 Ensembl416,122,733 - 16,163,647 (-)Ensembl
GRCm38416,122,732 - 16,163,678 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl416,122,733 - 16,163,647 (-)EnsemblGRCm38mm10GRCm38
MGSCv37416,050,522 - 16,090,645 (-)NCBIGRCm37mm9NCBIm37
MGSCv36416,050,522 - 16,090,647 (-)NCBImm8
Celera415,919,468 - 15,959,561 (-)NCBICelera
Cytogenetic Map4A2NCBI
cM Map46.7NCBI
Ripk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2529,630,806 - 29,662,804 (-)NCBI
Rnor_6.0 Ensembl529,838,747 - 29,870,735 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0529,838,713 - 29,870,390 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0534,512,111 - 34,543,807 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4530,714,817 - 30,745,941 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1530,715,463 - 30,738,284 (-)NCBI
Celera528,836,598 - 28,867,674 (-)NCBICelera
Cytogenetic Map5q13NCBI
Ripk2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554176,669,675 - 6,702,228 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554176,669,675 - 6,698,142 (+)NCBIChiLan1.0ChiLan1.0
RIPK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1888,397,768 - 88,431,690 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl888,398,468 - 88,456,268 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0886,447,216 - 86,480,511 (+)NCBIMhudiblu_PPA_v0panPan3
RIPK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12935,283,209 - 35,311,608 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2935,282,072 - 35,311,333 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2935,435,813 - 35,464,812 (+)NCBI
ROS_Cfam_1.02935,480,726 - 35,509,728 (+)NCBI
UMICH_Zoey_3.12935,472,061 - 35,501,046 (+)NCBI
UNSW_CanFamBas_1.02935,492,803 - 35,521,758 (+)NCBI
UU_Cfam_GSD_1.02935,926,135 - 35,955,236 (+)NCBI
Ripk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530344,137,166 - 44,185,801 (-)NCBI
SpeTri2.0NW_0049365443,606,925 - 3,653,248 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIPK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl447,027,092 - 47,074,725 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1447,026,558 - 47,075,133 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2451,491,234 - 51,539,306 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RIPK2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1884,843,391 - 84,881,087 (+)NCBI
ChlSab1.1 Ensembl884,843,471 - 84,881,303 (+)Ensembl
Ripk2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247442,194,339 - 2,227,498 (-)NCBI

Position Markers
RH48506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,803,065 - 90,803,227UniSTSGRCh37
Build 36890,872,206 - 90,872,368RGDNCBI36
Celera886,997,912 - 86,998,074RGD
Cytogenetic Map8q21UniSTS
HuRef886,013,470 - 86,013,632UniSTS
GeneMap99-GB4 RH Map8425.55UniSTS
NCBI RH Map8899.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:950
Count of miRNA genes:617
Interacting mature miRNAs:690
Transcripts:ENST00000220751, ENST00000517696, ENST00000518673, ENST00000522965, ENST00000540020
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 1122 1629 413 193 1271 134 3291 478 948 220 758 1057 74 952 1917 4
Low 1317 1359 1313 431 675 331 1033 1682 2786 199 701 553 101 1 252 838 2 2
Below cutoff 3 2 33 37 2 33

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF027706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI824070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY524045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY562996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA040898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000220751   ⟹   ENSP00000220751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,757,816 - 89,791,064 (+)Ensembl
RefSeq Acc Id: ENST00000517696   ⟹   ENSP00000427736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,757,817 - 89,762,858 (+)Ensembl
RefSeq Acc Id: ENST00000518673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,780,088 - 89,780,778 (+)Ensembl
RefSeq Acc Id: ENST00000522965   ⟹   ENSP00000429271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,757,806 - 89,790,608 (+)Ensembl
RefSeq Acc Id: NM_001375360   ⟹   NP_001362289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,757,816 - 89,791,064 (+)NCBI
RefSeq Acc Id: NM_003821   ⟹   NP_003812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,757,816 - 89,791,064 (+)NCBI
GRCh37890,769,335 - 90,803,292 (+)NCBI
Build 36890,839,110 - 90,872,433 (+)NCBI Archive
HuRef885,980,380 - 86,013,697 (+)ENTREZGENE
CHM1_1890,811,006 - 90,844,310 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517357   ⟹   XP_011515659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,766,980 - 89,791,058 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003812   ⟸   NM_003821
- Peptide Label: isoform 1
- UniProtKB: O43353 (UniProtKB/Swiss-Prot),   A0A0S2Z4Z8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515659   ⟸   XM_011517357
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001362289   ⟸   NM_001375360
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000427736   ⟸   ENST00000517696
RefSeq Acc Id: ENSP00000429271   ⟸   ENST00000522965
RefSeq Acc Id: ENSP00000220751   ⟸   ENST00000220751
Protein Domains
CARD   Protein kinase

Promoters
RGD ID:7213715
Promoter ID:EPDNEW_H12603
Type:initiation region
Name:RIPK2_1
Description:receptor interacting serine/threonine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,757,816 - 89,757,876EPDNEW
RGD ID:6807126
Promoter ID:HG_KWN:61659
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003821,   UC003YED.1,   UC003YEF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36890,838,951 - 90,839,451 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:90742314-91017575)x1 copy number loss See cases [RCV000447277] Chr8:90742314..91017575 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003821.6(RIPK2):c.1029+23_1029+25del deletion not specified [RCV000455270] Chr8:89784142..89784144 [GRCh38]
Chr8:90796370..90796372 [GRCh37]
Chr8:8q21.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:90717375-91029121)x1 copy number loss See cases [RCV000512288] Chr8:90717375..91029121 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:90737258-91091402)x3 copy number gain not provided [RCV000747708] Chr8:90737258..91091402 [GRCh37]
Chr8:8q21.3
benign
NM_003821.6(RIPK2):c.612A>T (p.Ser204=) single nucleotide variant not provided [RCV000879129] Chr8:89769900 [GRCh38]
Chr8:90782128 [GRCh37]
Chr8:8q21.3
benign
NM_003821.6(RIPK2):c.300T>C (p.Asn100=) single nucleotide variant not provided [RCV000944519] Chr8:89762955 [GRCh38]
Chr8:90775183 [GRCh37]
Chr8:8q21.3
likely benign
NM_003821.6(RIPK2):c.802C>G (p.Leu268Val) single nucleotide variant not provided [RCV000974238] Chr8:89772777 [GRCh38]
Chr8:90785005 [GRCh37]
Chr8:8q21.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:90758337-91556317)x3 copy number gain See cases [RCV001007451] Chr8:90758337..91556317 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3 copy number gain not provided [RCV001259018] Chr8:88194550..91779543 [GRCh37]
Chr8:8q21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10020 AgrOrtholog
COSMIC RIPK2 COSMIC
Ensembl Genes ENSG00000104312 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000220751 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427736 UniProtKB/TrEMBL
  ENSP00000429271 UniProtKB/TrEMBL
Ensembl Transcript ENST00000220751 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517696 UniProtKB/TrEMBL
  ENST00000522965 UniProtKB/TrEMBL
GTEx ENSG00000104312 GTEx
HGNC ID HGNC:10020 ENTREZGENE
Human Proteome Map RIPK2 Human Proteome Map
InterPro CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARD_RIP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt-int_Ser/Thr_kinase-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8767 ENTREZGENE
OMIM 603455 OMIM
Pfam CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34395 PharmGKB
PIRSF STPK_RIP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4Z8 ENTREZGENE, UniProtKB/TrEMBL
  E5RGK6_HUMAN UniProtKB/TrEMBL
  E7ERW9_HUMAN UniProtKB/TrEMBL
  O43353 ENTREZGENE
  Q6Q322_HUMAN UniProtKB/TrEMBL
  RIPK2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z748 UniProtKB/Swiss-Prot
  Q6UWF0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 RIPK2  receptor interacting serine/threonine kinase 2  RIPK2  receptor-interacting serine-threonine kinase 2  Symbol and/or name change 5135510 APPROVED