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:10020
Description: Enables several functions, including caspase binding activity; protein domain specific binding activity; and protein homodimerization activity. Involved in several processes, including defense response to other organism; nucleotide-binding activity domain, leucine rich repeat containing receptor signaling pathway; and positive regulation of protein modification process. Acts upstream of or within positive regulation of canonical NF-kappaB signal transduction and toll-like receptor 2 signaling pathway. Located in cytoskeleton; cytosol; and vesicle. Part of protein-containing complex. Is active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38889,757,816 - 89,791,064 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl889,757,806 - 89,791,064 (+)EnsemblGRCh38hg38GRCh38
GRCh37890,770,044 - 90,803,292 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36890,839,110 - 90,872,433 (+)NCBINCBI36Build 36hg18NCBI36
Build 34890,839,172 - 90,872,432NCBI
Celera886,964,831 - 86,998,139 (+)NCBICelera
Cytogenetic Map8q21.3NCBI
HuRef885,980,380 - 86,013,697 (+)NCBIHuRef
CHM1_1890,811,006 - 90,844,310 (+)NCBICHM1_1
T2T-CHM13v2.0890,880,976 - 90,914,226 (+)NCBIT2T-CHM13v2.0
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)
aristolochic acid A  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
capsaicin  (EXP)
chlorpyrifos  (ISO)
cholesterol  (ISO)
cisplatin  (EXP,ISO)
cobalt atom  (EXP)
copper(II) sulfate  (EXP)
corn oil  (ISO)
coumarin  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
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)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
lamivudine  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP,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)
paracetamol  (ISO)
paraquat  (EXP)
perfluorononanoic acid  (EXP)
phenethyl isothiocyanate  (ISO)
phenobarbital  (EXP)
pirinixic acid  (EXP,ISO)
piroxicam  (EXP)
prednisolone  (EXP)
propylparaben  (EXP)
pyrethrins  (EXP)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (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
adaptive immune response  (IEA,ISS)
apoptotic process  (IDA,IEA,TAS)
canonical NF-kappaB signal transduction  (IEA,ISS)
CD4-positive, alpha-beta T cell proliferation  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to lipoteichoic acid  (IEA,ISO)
cellular response to muramyl dipeptide  (IDA,IEA)
cellular response to organic substance  (IEA)
cellular response to peptidoglycan  (IEA,ISO)
cytokine-mediated signaling pathway  (IEA,ISO)
defense response to bacterium  (IDA)
defense response to Gram-positive bacterium  (IEA,ISO)
ERK1 and ERK2 cascade  (IEA,ISO)
immature T cell proliferation in thymus  (IEA,ISO)
inflammatory response  (TAS)
innate immune response  (IBA,IDA,IEA,ISS)
JNK cascade  (IEA,ISO)
lipopolysaccharide-mediated signaling pathway  (IEA,ISO)
nucleotide-binding oligomerization domain containing 1 signaling pathway  (IDA,IEA,ISO)
nucleotide-binding oligomerization domain containing 2 signaling pathway  (IDA,IEA,ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of canonical NF-kappaB signal transduction  (IBA,IDA,IEA)
positive regulation of CD4-positive, alpha-beta T cell proliferation  (IEA,ISO)
positive regulation of chemokine production  (IEA,ISO)
positive regulation of cytokine-mediated signaling pathway  (IEA,ISO)
positive regulation of defense response  (IEA)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of immature T cell proliferation in thymus  (IEA,ISO)
positive regulation of interferon-alpha production  (NAS)
positive regulation of interferon-beta production  (NAS)
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 macrophage cytokine production  (IEA,ISO)
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 K63-linked ubiquitination  (IDA)
positive regulation of protein ubiquitination  (IMP,NAS)
positive regulation of stress-activated MAPK cascade  (IEA,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 type II interferon production  (IEA,ISO)
positive regulation of xenophagy  (IEA,ISO)
protein homooligomerization  (IDA)
response to exogenous dsRNA  (IEA,ISO)
response to interleukin-1  (IEA,ISO)
response to interleukin-12  (IEA,ISO)
response to interleukin-18  (IEA,ISO)
response to stress  (IEA)
signal transduction  (IEA,TAS)
stress-activated MAPK cascade  (IEA,ISO)
T cell proliferation  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO,ISS,TAS)
toll-like receptor 2 signaling pathway  (IDA)
toll-like receptor 4 signaling pathway  (IEA,ISO)
xenophagy  (IEA,ISO)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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:17562858   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:32707033   PMID:32909611   PMID:32954645   PMID:33204717   PMID:33413510   PMID:33460440  
PMID:33790054   PMID:33961781   PMID:34079125   PMID:34152391   PMID:34356990   PMID:34587513   PMID:34623328   PMID:34825931   PMID:35033591   PMID:35099539   PMID:35115556   PMID:35220902  
PMID:35409172   PMID:35437868   PMID:35473583   PMID:35477477   PMID:35508972   PMID:35563538   PMID:36184801   PMID:36221902   PMID:36567775   PMID:36736316   PMID:36774506   PMID:36931259  
PMID:37016317   PMID:37398436   PMID:37488967   PMID:37914353   PMID:38227684  


Genomics

Comparative Map Data
RIPK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38889,757,816 - 89,791,064 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl889,757,806 - 89,791,064 (+)EnsemblGRCh38hg38GRCh38
GRCh37890,770,044 - 90,803,292 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36890,839,110 - 90,872,433 (+)NCBINCBI36Build 36hg18NCBI36
Build 34890,839,172 - 90,872,432NCBI
Celera886,964,831 - 86,998,139 (+)NCBICelera
Cytogenetic Map8q21.3NCBI
HuRef885,980,380 - 86,013,697 (+)NCBIHuRef
CHM1_1890,811,006 - 90,844,310 (+)NCBICHM1_1
T2T-CHM13v2.0890,880,976 - 90,914,226 (+)NCBIT2T-CHM13v2.0
Ripk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39416,122,740 - 16,163,674 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl416,122,733 - 16,163,647 (-)EnsemblGRCm39 Ensembl
GRCm38416,122,732 - 16,163,678 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl416,122,733 - 16,163,647 (-)EnsemblGRCm38mm10GRCm38
MGSCv37416,050,522 - 16,090,645 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36416,050,522 - 16,090,647 (-)NCBIMGSCv36mm8
Celera415,919,468 - 15,959,561 (-)NCBICelera
Cytogenetic Map4A2NCBI
cM Map46.7NCBI
Ripk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8534,428,573 - 34,459,808 (-)NCBIGRCr8
mRatBN7.2529,630,806 - 29,662,804 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl529,631,570 - 29,662,657 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx531,792,628 - 31,823,715 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0533,385,294 - 33,416,381 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0533,345,474 - 33,376,561 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0529,838,713 - 29,870,390 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl529,838,747 - 29,870,735 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0534,512,111 - 34,543,807 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4530,714,817 - 30,745,941 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v27107,156,375 - 107,189,911 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1882,693,378 - 82,735,495 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0886,447,216 - 86,480,511 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1888,397,768 - 88,431,690 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl888,398,468 - 88,456,268 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02935,480,726 - 35,509,728 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2935,479,776 - 35,509,034 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12935,472,061 - 35,501,046 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02935,492,803 - 35,521,758 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02935,926,135 - 35,955,236 (+)NCBIUU_Cfam_GSD_1.0
Ripk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530344,137,166 - 44,185,801 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365443,606,879 - 3,655,532 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365443,606,925 - 3,653,248 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIPK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl447,027,098 - 47,074,704 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1884,843,391 - 84,881,087 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl884,843,471 - 84,881,303 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603955,998,663 - 56,036,344 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ripk2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247442,201,319 - 2,226,890 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247442,194,339 - 2,227,498 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RIPK2
17 total Variants

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 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 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(chr8:87010235-91879538)x1 copy number loss not provided [RCV002472864] Chr8:87010235..91879538 [GRCh37]
Chr8:8q21.3		 uncertain significance
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
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:90742314-91017575) copy number loss not specified [RCV002053785] Chr8:90742314..91017575 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274) copy number loss not provided [RCV003236711] Chr8:89179899..97978274 [GRCh37]
Chr8:8q21.3-22.1		 pathogenic
NC_000008.11:g.89811459A>G single nucleotide variant Leprosy, susceptibility to, 1 [RCV002291823] Chr8:89811459 [GRCh38]
Chr8:90823687 [GRCh37]
Chr8:8q21.3		 uncertain risk allele
NM_003821.6(RIPK2):c.483+789G>A single nucleotide variant Leprosy, susceptibility to, 1 [RCV002291824] Chr8:89766285 [GRCh38]
Chr8:90778513 [GRCh37]
Chr8:8q21.3		 uncertain risk allele
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_003821.6(RIPK2):c.791G>A (p.Arg264His) single nucleotide variant not specified [RCV004242708] Chr8:89772766 [GRCh38]
Chr8:90784994 [GRCh37]
Chr8:8q21.3		 likely benign
NM_003821.6(RIPK2):c.514A>G (p.Met172Val) single nucleotide variant not specified [RCV004141281] Chr8:89769802 [GRCh38]
Chr8:90782030 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.1219T>C (p.Cys407Arg) single nucleotide variant not specified [RCV004206670] Chr8:89789416 [GRCh38]
Chr8:90801644 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.512G>A (p.Arg171His) single nucleotide variant not specified [RCV004089035] Chr8:89769800 [GRCh38]
Chr8:90782028 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.1325G>A (p.Ser442Asn) single nucleotide variant not specified [RCV004169380] Chr8:89790118 [GRCh38]
Chr8:90802346 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.815G>A (p.Gly272Glu) single nucleotide variant not specified [RCV004124854] Chr8:89772790 [GRCh38]
Chr8:90785018 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.787G>A (p.Ala263Thr) single nucleotide variant not specified [RCV004134654] Chr8:89772762 [GRCh38]
Chr8:90784990 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.1147A>G (p.Met383Val) single nucleotide variant not specified [RCV004082391] Chr8:89789344 [GRCh38]
Chr8:90801572 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.790C>T (p.Arg264Cys) single nucleotide variant not specified [RCV004081696] Chr8:89772765 [GRCh38]
Chr8:90784993 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.1064G>C (p.Ser355Thr) single nucleotide variant not specified [RCV004180648] Chr8:89786627 [GRCh38]
Chr8:90798855 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.310A>G (p.Asn104Asp) single nucleotide variant not provided [RCV003223285] Chr8:89762965 [GRCh38]
Chr8:90775193 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.935C>T (p.Thr312Ile) single nucleotide variant not specified [RCV004274751] Chr8:89780156 [GRCh38]
Chr8:90792384 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.1376C>T (p.Ser459Leu) single nucleotide variant not specified [RCV004343226] Chr8:89790169 [GRCh38]
Chr8:90802397 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1 copy number loss not provided [RCV003483033] Chr8:86955187..94955826 [GRCh37]
Chr8:8q21.3-22.1		 uncertain significance
GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1 copy number loss not provided [RCV003483032] Chr8:84127576..98263585 [GRCh37]
Chr8:8q21.13-22.1		 pathogenic
NM_003821.6(RIPK2):c.1029+25dup duplication not provided [RCV003700599] Chr8:89784141..89784142 [GRCh38]
Chr8:90796369..90796370 [GRCh37]
Chr8:8q21.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_003821.6(RIPK2):c.1456A>G (p.Lys486Glu) single nucleotide variant not specified [RCV004451885] Chr8:89790249 [GRCh38]
Chr8:90802477 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.515T>C (p.Met172Thr) single nucleotide variant not specified [RCV004451890] Chr8:89769803 [GRCh38]
Chr8:90782031 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.470A>G (p.Glu157Gly) single nucleotide variant not specified [RCV004451888] Chr8:89765483 [GRCh38]
Chr8:90777711 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.1009G>A (p.Val337Ile) single nucleotide variant not specified [RCV004451883] Chr8:89784119 [GRCh38]
Chr8:90796347 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.1270A>G (p.Thr424Ala) single nucleotide variant not specified [RCV004451884] Chr8:89789467 [GRCh38]
Chr8:90801695 [GRCh37]
Chr8:8q21.3		 likely benign
NM_003821.6(RIPK2):c.146T>G (p.Leu49Arg) single nucleotide variant not specified [RCV004451886] Chr8:89758206 [GRCh38]
Chr8:90770434 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_003821.6(RIPK2):c.269T>G (p.Phe90Cys) single nucleotide variant not specified [RCV004451887] Chr8:89762924 [GRCh38]
Chr8:90775152 [GRCh37]
Chr8:8q21.3		 uncertain significance
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.

Markers in Region
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


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
  XM_054361439 (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
  CP068270 (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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl889,757,816 - 89,791,064 (+)Ensembl
RefSeq Acc Id: ENST00000517696   ⟹   ENSP00000427736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl889,757,817 - 89,762,858 (+)Ensembl
RefSeq Acc Id: ENST00000518673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl889,780,088 - 89,780,778 (+)Ensembl
RefSeq Acc Id: ENST00000522965   ⟹   ENSP00000429271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0890,880,976 - 90,914,226 (+)NCBI
Sequence:
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
T2T-CHM13v2.0890,880,976 - 90,914,226 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517357   ⟹   XP_011515659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,767,009 - 89,791,064 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054361439   ⟹   XP_054217414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0890,890,169 - 90,914,226 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_003812   ⟸   NM_003821
- Peptide Label: isoform 1
- UniProtKB: B7Z748 (UniProtKB/Swiss-Prot),   Q6UWF0 (UniProtKB/Swiss-Prot),   O43353 (UniProtKB/Swiss-Prot),   A0A0S2Z4Z8 (UniProtKB/TrEMBL),   Q2TU65 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515659   ⟸   XM_011517357
- Peptide Label: isoform X1
- 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
RefSeq Acc Id: XP_054217414   ⟸   XM_054361439
- Peptide Label: isoform X1
Protein Domains
CARD   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43353-F1-model_v2 AlphaFold O43353 1-540 view protein structure

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

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 Transcript ENST00000220751 ENTREZGENE
  ENST00000220751.5 UniProtKB/Swiss-Prot
  ENST00000517696.1 UniProtKB/TrEMBL
  ENST00000522965.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, 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
PANTHER DUAL SPECIFICITY PROTEIN KINASE SPLA-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE-THREONINE PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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
  B7Z748 ENTREZGENE
  E5RGK6_HUMAN UniProtKB/TrEMBL
  E7ERW9_HUMAN UniProtKB/TrEMBL
  O43353 ENTREZGENE
  Q2TU65 ENTREZGENE, UniProtKB/TrEMBL
  Q6Q322_HUMAN UniProtKB/TrEMBL
  Q6UWF0 ENTREZGENE
  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