CSNK2B (casein kinase 2 beta) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CSNK2B (casein kinase 2 beta) Homo sapiens
Analyze
Symbol: CSNK2B
Name: casein kinase 2 beta
RGD ID: 1347139
HGNC Page HGNC:2460
Description: Enables several functions, including RNA polymerase II-specific DNA-binding transcription factor binding activity; chromatin binding activity; and identical protein binding activity. Involved in several processes, including adiponectin-activated signaling pathway; positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and symbiont-mediated disruption of host cell PML body. Located in PcG protein complex; cytoplasm; and plasma membrane. Part of chromatin and protein kinase CK2 complex. Is active in PML body. Biomarker of leiomyoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alternative name: G5a, phosvitin; casein kinase 2, beta polypeptide; casein kinase II b subunit splicing isoform 132; casein kinase II b subunit splicing isoform 247; casein kinase II b subunit splicing isoform 318; casein kinase II b subunit splicing isoform 660; casein kinase II b subunit splicing isoform 806; Casein kinase II beta subunit; casein kinase II subunit beta; chimera CSNK2B-LY6G5B splicing isoform 1072; chimera CSNK2B-LY6G5B splicing isoform 1103; chimera CSNK2B-LY6G5B splicing isoform 532; chimera CSNK2B-LY6G5B splicing isoform 560; chimera CSNK2B-LY6G5B splicing isoform 562; CK II beta; CK2B; CK2N; Ckb1; Ckb2; CSK2B; CSNK2B-LY6G5B-1072; CSNK2B-LY6G5B-1103; CSNK2B-LY6G5B-532; CSNK2B-LY6G5B-560; CSNK2B-LY6G5B-562; G5A; MGC138222; MGC138224; phosvitin; POBINDS
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
GRCh38631,666,080 - 31,670,067 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,665,227 - 31,670,343 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,633,857 - 31,637,844 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,741,636 - 31,745,822 (+)NCBINCBI36Build 36hg18NCBI36
Build 34631,741,635 - 31,745,822NCBI
Celera633,231,878 - 33,236,064 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,419,882 - 31,424,068 (+)NCBIHuRef
CHM1_1631,635,793 - 31,639,979 (+)NCBICHM1_1
T2T-CHM13v2.0631,519,114 - 31,523,101 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
ATP  (EXP)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
cadmium dichloride  (ISO)
capsaicin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
chrysin 5,7-dimethyl ether  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
crocidolite asbestos  (ISO)
cycloheximide  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
emodin  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
genistein  (ISO)
gentamycin  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
omeprazole  (ISO)
paracetamol  (ISO)
phenethyl isothiocyanate  (ISO)
pirinixic acid  (ISO)
Propiverine  (ISO)
pyrogallol  (ISO)
quercetin  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
sodium arsenite  (EXP)
temozolomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Morphological changes and expression of protein kinase CK2 beta subunit in the microglia after hypoglossal nerve transection. Gesase AP and Kiyama H, J Neurocytol. 2000 Jan;29(1):61-6.
2. Expression of protein kinase CK2 in astroglial cells of normal and neovascularized retina. Kramerov AA, etal., Am J Pathol. 2006 May;168(5):1722-36.
3. Quantitative proteome profiling of human myoma and myometrium tissue reveals kinase expression signatures with potential for therapeutic intervention. Lemeer S, etal., Proteomics. 2015 Jan;15(2-3):356-64. doi: 10.1002/pmic.201400213. Epub 2014 Dec 17.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Selective removal of mitochondria via mitophagy: distinct pathways for different mitochondrial stresses. Wei H, etal., Biochim Biophys Acta. 2015 Oct;1853(10 Pt B):2784-90. doi: 10.1016/j.bbamcr.2015.03.013. Epub 2015 Apr 1.
8. Differential gene expression in infarct scar and viable myocardium from rat heart following coronary ligation. Xu YJ, etal., J Cell Mol Med. 2004 Jan-Mar;8(1):85-92.
Additional References at PubMed
PMID:1541298   PMID:1694965   PMID:1856204   PMID:1939094   PMID:2276748   PMID:2300566   PMID:2513884   PMID:2666134   PMID:7491787   PMID:7578274   PMID:7689229   PMID:7768894  
PMID:7794916   PMID:7838153   PMID:7942276   PMID:8089108   PMID:8107101   PMID:8119294   PMID:8139011   PMID:8349691   PMID:8548340   PMID:8659106   PMID:8806611   PMID:8806671  
PMID:8812450   PMID:8943850   PMID:9013635   PMID:9042965   PMID:9092824   PMID:9151826   PMID:9185604   PMID:9188720   PMID:9299532   PMID:9478999   PMID:9503014   PMID:9571630  
PMID:9654140   PMID:9677319   PMID:9685505   PMID:9738462   PMID:9881639   PMID:10094392   PMID:10094400   PMID:10214938   PMID:10327653   PMID:10381337   PMID:10398585   PMID:10403822  
PMID:10491318   PMID:10506147   PMID:10512750   PMID:10549165   PMID:10549869   PMID:10561590   PMID:10641798   PMID:10679299   PMID:10747897   PMID:10753899   PMID:10764587   PMID:10799509  
PMID:10931861   PMID:10944435   PMID:10951572   PMID:10964683   PMID:10984616   PMID:11062072   PMID:11092945   PMID:11239457   PMID:11298324   PMID:11378439   PMID:11396975   PMID:11485312  
PMID:11535139   PMID:11546811   PMID:11574463   PMID:11583622   PMID:11709713   PMID:11710515   PMID:11713579   PMID:11827166   PMID:11827167   PMID:11827168   PMID:11827171   PMID:11827172  
PMID:11827174   PMID:11827176   PMID:11827177   PMID:11827178   PMID:11861906   PMID:11883897   PMID:11940573   PMID:11972058   PMID:11984006   PMID:12037680   PMID:12102635   PMID:12145206  
PMID:12220519   PMID:12393879   PMID:12432063   PMID:12470599   PMID:12477932   PMID:12511551   PMID:12527891   PMID:12591939   PMID:12628923   PMID:12748192   PMID:12769847   PMID:12804768  
PMID:12901717   PMID:12902976   PMID:12954211   PMID:14574404   PMID:14634006   PMID:14645218   PMID:14656967   PMID:14667819   PMID:14744259   PMID:15218032   PMID:15225637   PMID:15485924  
PMID:15489334   PMID:15723517   PMID:15893730   PMID:15940255   PMID:16159877   PMID:16225457   PMID:16335536   PMID:16713569   PMID:16741955   PMID:16806200   PMID:16895915   PMID:16977309  
PMID:17038328   PMID:17081983   PMID:17092945   PMID:17209043   PMID:17353931   PMID:17391060   PMID:17643375   PMID:17681943   PMID:17709345   PMID:17912454   PMID:18062282   PMID:18086883  
PMID:18186541   PMID:18276110   PMID:18451726   PMID:18469858   PMID:18508765   PMID:18553059   PMID:18560763   PMID:18583988   PMID:18587631   PMID:18824508   PMID:18835879   PMID:18839019  
PMID:19011756   PMID:19039329   PMID:19056846   PMID:19091862   PMID:19233263   PMID:19294699   PMID:19324893   PMID:19542537   PMID:19592636   PMID:19615732   PMID:19616115   PMID:19738201  
PMID:19759161   PMID:19808671   PMID:19851445   PMID:19851886   PMID:19913121   PMID:20044958   PMID:20372791   PMID:20458337   PMID:20545769   PMID:20576813   PMID:20628086   PMID:20664522  
PMID:20719947   PMID:20797629   PMID:20811636   PMID:20869595   PMID:21068236   PMID:21078624   PMID:21142136   PMID:21282530   PMID:21323541   PMID:21486957   PMID:21507959   PMID:21514207  
PMID:21515457   PMID:21630459   PMID:21653829   PMID:21675959   PMID:21750988   PMID:21755461   PMID:21777522   PMID:21873635   PMID:21900206   PMID:21944249   PMID:21968188   PMID:21988832  
PMID:22174317   PMID:22325352   PMID:22506723   PMID:22562247   PMID:22623428   PMID:22658674   PMID:22810585   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23076192   PMID:23383273  
PMID:23402259   PMID:23455922   PMID:23508102   PMID:23521802   PMID:23555304   PMID:23580615   PMID:23599180   PMID:23602568   PMID:23751493   PMID:23752268   PMID:23816881   PMID:23858473  
PMID:24104479   PMID:24175891   PMID:24216761   PMID:24366813   PMID:24457600   PMID:24535599   PMID:24711643   PMID:24981860   PMID:25344690   PMID:25437307   PMID:25486430   PMID:25519132  
PMID:25640309   PMID:25648896   PMID:25693804   PMID:25737280   PMID:25788269   PMID:25852190   PMID:25921289   PMID:26108355   PMID:26186194   PMID:26264872   PMID:26344197   PMID:26496610  
PMID:26549023   PMID:26562092   PMID:26562283   PMID:26582913   PMID:26673895   PMID:26711270   PMID:26725010   PMID:26816005   PMID:26972000   PMID:27129302   PMID:27173435   PMID:27609421  
PMID:27634302   PMID:27684187   PMID:27705803   PMID:27920254   PMID:27959425   PMID:28031292   PMID:28077445   PMID:28201649   PMID:28298427   PMID:28514442   PMID:28515276   PMID:28572157  
PMID:28585349   PMID:28700943   PMID:29037858   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29467282   PMID:29483533   PMID:29491746   PMID:29509190   PMID:29564676   PMID:29778533  
PMID:29802200   PMID:29845934   PMID:29997244   PMID:29999490   PMID:30196744   PMID:30240640   PMID:30279146   PMID:30462309   PMID:30463901   PMID:30554943   PMID:30655572   PMID:30833792  
PMID:30884312   PMID:30885251   PMID:30948266   PMID:31076518   PMID:31091453   PMID:31239290   PMID:31340145   PMID:31341047   PMID:31560077   PMID:31586073   PMID:31617661   PMID:31678930  
PMID:31722399   PMID:31753913   PMID:31784560   PMID:31832700   PMID:31901862   PMID:31910234   PMID:31941600   PMID:31980649   PMID:32129710   PMID:32296183   PMID:32353859   PMID:32416067  
PMID:32460013   PMID:32552912   PMID:32640226   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32814053   PMID:33060197   PMID:33166063   PMID:33187986   PMID:33239621   PMID:33526068  
PMID:33545068   PMID:33640491   PMID:33658012   PMID:33729478   PMID:33916271   PMID:33961781   PMID:34041744   PMID:34079125   PMID:34163012   PMID:34244565   PMID:34370157   PMID:34373451  
PMID:34578187   PMID:34597346   PMID:34728620   PMID:35140242   PMID:35182466   PMID:35211278   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35325203   PMID:35446349   PMID:35563538  
PMID:35813202   PMID:35831314   PMID:35869491   PMID:35871297   PMID:35914814   PMID:35944360   PMID:36057605   PMID:36089195   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36373674  
PMID:36398662   PMID:36424410   PMID:36537216   PMID:36617978   PMID:36629882   PMID:36736316   PMID:36833176   PMID:36949045   PMID:37014752   PMID:37022795   PMID:37094077   PMID:37314216  
PMID:37483225   PMID:37974198   PMID:38113892   PMID:38225382   PMID:38580884   PMID:39147351   PMID:39236211  


Genomics

Comparative Map Data
CSNK2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,666,080 - 31,670,067 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,665,227 - 31,670,343 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,633,857 - 31,637,844 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,741,636 - 31,745,822 (+)NCBINCBI36Build 36hg18NCBI36
Build 34631,741,635 - 31,745,822NCBI
Celera633,231,878 - 33,236,064 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,419,882 - 31,424,068 (+)NCBIHuRef
CHM1_1631,635,793 - 31,639,979 (+)NCBICHM1_1
T2T-CHM13v2.0631,519,114 - 31,523,101 (+)NCBIT2T-CHM13v2.0
Csnk2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,335,171 - 35,341,029 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,335,172 - 35,341,029 (-)EnsemblGRCm39 Ensembl
GRCm381735,116,195 - 35,122,053 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1735,116,196 - 35,122,053 (-)EnsemblGRCm38mm10GRCm38
MGSCv371735,253,140 - 35,258,392 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361734,724,251 - 34,729,503 (-)NCBIMGSCv36mm8
Celera1738,213,147 - 38,218,397 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.59NCBI
Csnk2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8203,704,833 - 3,709,999 (+)NCBIGRCr8
mRatBN7.2203,700,363 - 3,705,331 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl203,698,733 - 3,707,133 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx204,399,893 - 4,404,317 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0203,761,951 - 3,766,375 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0204,299,839 - 4,304,262 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0205,108,692 - 5,113,675 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl205,106,890 - 5,113,112 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0207,181,951 - 7,186,861 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4203,764,565 - 3,768,985 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1203,764,954 - 3,769,209 (+)NCBI
Celera204,320,311 - 4,324,731 (-)NCBICelera
Cytogenetic Map20p12NCBI
Csnk2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955437210,838 - 219,694 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955437210,541 - 215,725 (+)NCBIChiLan1.0ChiLan1.0
CSNK2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2546,143,115 - 46,147,114 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1642,104,623 - 42,108,622 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0631,327,250 - 31,331,250 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1632,216,283 - 32,221,131 (+)NCBIpanpan1.1PanPan1.1panPan2
CSNK2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1121,149,467 - 1,154,417 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl121,149,548 - 1,154,418 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha121,285,676 - 1,290,594 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0121,294,469 - 1,299,387 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl121,294,519 - 1,301,941 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1121,153,768 - 1,158,617 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0121,221,041 - 1,225,991 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0121,288,118 - 1,293,071 (+)NCBIUU_Cfam_GSD_1.0
Csnk2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494635,698,801 - 35,703,748 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367271,857,596 - 1,862,002 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367271,857,596 - 1,862,551 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSNK2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,786,805 - 23,787,808 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1 Ensembl723,780,362 - 23,788,678 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1723,781,194 - 23,787,914 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2727,464,062 - 27,471,599 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CSNK2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11740,354,520 - 40,359,136 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1740,352,367 - 40,358,401 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604431,577,195 - 31,581,146 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Csnk2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475424,533,134 - 24,538,233 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CSNK2B
102 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001320.7(CSNK2B):c.27del (p.Ser8_Trp9insTer) deletion not provided [RCV000519863] Chr6:31666857 [GRCh38]
Chr6:31634634 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002246284]|See cases [RCV001291643]|not provided [RCV004584874] Chr6:31669445 [GRCh38]
Chr6:31637222 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.292-2A>C single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001331966] Chr6:31669095 [GRCh38]
Chr6:31636872 [GRCh37]
Chr6:6p21.33
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) single nucleotide variant CSNK2B-related disorder [RCV003942606]|Inborn genetic diseases [RCV001267434]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002468581]|not provided [RCV001281589] Chr6:31667934 [GRCh38]
Chr6:31635711 [GRCh37]
Chr6:6p21.33
pathogenic|uncertain significance
NM_001320.7(CSNK2B):c.73-2A>G single nucleotide variant Inborn genetic diseases [RCV000624000] Chr6:31667866 [GRCh38]
Chr6:31635643 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) single nucleotide variant CSNK2B-related disorder [RCV003411469]|Inborn genetic diseases [RCV000624714]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003139949]|Seizure [RCV002221564]|not provided [RCV001860419] Chr6:31667889 [GRCh38]
Chr6:31635666 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001320.7(CSNK2B):c.105dup (p.Leu36fs) duplication not provided [RCV000598578] Chr6:31667899..31667900 [GRCh38]
Chr6:31635676..31635677 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV000681657] Chr6:31666833 [GRCh38]
Chr6:31634610 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.181G>T (p.Glu61Ter) single nucleotide variant not provided [RCV000681658] Chr6:31668544 [GRCh38]
Chr6:31636321 [GRCh37]
Chr6:6p21.33
likely pathogenic
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3 copy number gain See cases [RCV000448679] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001320.7(CSNK2B):c.36G>A (p.Trp12Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003448326]|not provided [RCV000578649] Chr6:31666867 [GRCh38]
Chr6:31634644 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.108dup (p.Thr37fs) duplication Intellectual disability and seizures [RCV000495848]|Poirier-Bienvenu neurodevelopmental syndrome [RCV000993566] Chr6:31667901..31667902 [GRCh38]
Chr6:31635678..31635679 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.491C>T (p.Pro164Leu) single nucleotide variant Inborn genetic diseases [RCV003257416] Chr6:31669442 [GRCh38]
Chr6:31637219 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.238T>A (p.Tyr80Asn) single nucleotide variant Inborn genetic diseases [RCV000624903] Chr6:31668601 [GRCh38]
Chr6:31636378 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.62TCT[1] (p.Phe22del) microsatellite not provided [RCV001760623] Chr6:31666892..31666894 [GRCh38]
Chr6:31634669..31634671 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.367+2T>C single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001003349] Chr6:31669174 [GRCh38]
Chr6:31636951 [GRCh37]
Chr6:6p21.33
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32
uncertain significance
NM_001320.7(CSNK2B):c.175+2T>G single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV000993565] Chr6:31667972 [GRCh38]
Chr6:31635749 [GRCh37]
Chr6:6p21.33
pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_001320.7(CSNK2B):c.108T>A (p.Leu36=) single nucleotide variant not provided [RCV000884603] Chr6:31667903 [GRCh38]
Chr6:31635680 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.265del (p.Thr90fs) deletion Poirier-Bienvenu neurodevelopmental syndrome [RCV000993569] Chr6:31668627 [GRCh38]
Chr6:31636404 [GRCh37]
Chr6:6p21.33
pathogenic|uncertain significance
NM_001320.7(CSNK2B):c.621dup (p.Lys208fs) duplication Poirier-Bienvenu neurodevelopmental syndrome [RCV000993568] Chr6:31669898..31669899 [GRCh38]
Chr6:31637675..31637676 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.340T>C (p.Cys114Arg) single nucleotide variant not provided [RCV001090484] Chr6:31669145 [GRCh38]
Chr6:31636922 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.367+5del deletion Poirier-Bienvenu neurodevelopmental syndrome [RCV002221588]|Seizure [RCV000845042]|not provided [RCV001560828] Chr6:31669177 [GRCh38]
Chr6:31636954 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic|not provided
NM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs) insertion Poirier-Bienvenu neurodevelopmental syndrome [RCV000993567] Chr6:31669484..31669485 [GRCh38]
Chr6:31637261..31637262 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.318T>G (p.Phe106Leu) single nucleotide variant not provided [RCV000998553] Chr6:31669123 [GRCh38]
Chr6:31636900 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter) single nucleotide variant not provided [RCV000851179] Chr6:31668592 [GRCh38]
Chr6:31636369 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.368-2A>G single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV000993570] Chr6:31669317 [GRCh38]
Chr6:31637094 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.72+1G>T single nucleotide variant Autism spectrum disorder [RCV003127240] Chr6:31666904 [GRCh38]
Chr6:31634681 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.277G>A (p.Gly93Ser) single nucleotide variant not provided [RCV003127091] Chr6:31668640 [GRCh38]
Chr6:31636417 [GRCh37]
Chr6:6p21.33
uncertain significance
NC_000006.11:g.(?_30695893)_(31937492_?)dup duplication not provided [RCV003107453] Chr6:30695893..31937492 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.367+6T>C single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001706783] Chr6:31669178 [GRCh38]
Chr6:31636955 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.229G>A (p.Glu77Lys) single nucleotide variant not provided [RCV001561261] Chr6:31668592 [GRCh38]
Chr6:31636369 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.175+217_175+220del deletion not provided [RCV001642106] Chr6:31668187..31668190 [GRCh38]
Chr6:31635964..31635967 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.462G>T (p.Thr154=) single nucleotide variant not provided [RCV000978390] Chr6:31669413 [GRCh38]
Chr6:31637190 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.1A>G (p.Met1Val) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV004726946]|not provided [RCV001200288] Chr6:31666832 [GRCh38]
Chr6:31634609 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.32C>T (p.Ser11Phe) single nucleotide variant not provided [RCV002466997] Chr6:31666863 [GRCh38]
Chr6:31634640 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.268dup (p.Thr90fs) duplication CSNK2B-related intellectual disability with or without epilepsy [RCV001563630] Chr6:31668630..31668631 [GRCh38]
Chr6:31636407..31636408 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.307C>T (p.Gln103Ter) single nucleotide variant not provided [RCV003234508] Chr6:31669112 [GRCh38]
Chr6:31636889 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.*104C>T single nucleotide variant not provided [RCV001662895] Chr6:31670030 [GRCh38]
Chr6:31637807 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.73-1G>A single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002255105] Chr6:31667867 [GRCh38]
Chr6:31635644 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.257G>C (p.Arg86Pro) single nucleotide variant not provided [RCV002467250] Chr6:31668620 [GRCh38]
Chr6:31636397 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002472183] Chr6:31669130 [GRCh38]
Chr6:31636907 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.101T>G (p.Phe34Cys) single nucleotide variant not provided [RCV001682651] Chr6:31667896 [GRCh38]
Chr6:31635673 [GRCh37]
Chr6:6p21.33
likely pathogenic
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NM_001320.7(CSNK2B):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV001658785] Chr6:31666833 [GRCh38]
Chr6:31634610 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.175+213_175+215del deletion not provided [RCV001684298] Chr6:31668182..31668184 [GRCh38]
Chr6:31635959..31635961 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.491C>G (p.Pro164Arg) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001706908]|not provided [RCV004774462] Chr6:31669442 [GRCh38]
Chr6:31637219 [GRCh37]
Chr6:6p21.33
likely pathogenic|uncertain significance
NM_001320.7(CSNK2B):c.-11-28A>C single nucleotide variant not provided [RCV001649101] Chr6:31666793 [GRCh38]
Chr6:31634570 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.*31A>T single nucleotide variant not provided [RCV001652060] Chr6:31669957 [GRCh38]
Chr6:31637734 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.292-2A>T single nucleotide variant not provided [RCV001531621] Chr6:31669095 [GRCh38]
Chr6:31636872 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001249833] Chr6:31669108 [GRCh38]
Chr6:31636885 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.68G>T (p.Cys23Phe) single nucleotide variant not provided [RCV001090483] Chr6:31666899 [GRCh38]
Chr6:31634676 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.554_555dup (p.Arg186fs) duplication Poirier-Bienvenu neurodevelopmental syndrome [RCV001253734] Chr6:31669503..31669504 [GRCh38]
Chr6:31637280..31637281 [GRCh37]
Chr6:6p21.33
likely pathogenic|uncertain significance
NM_001320.7(CSNK2B):c.72+1G>A single nucleotide variant Inborn genetic diseases [RCV001265893]|Poirier-Bienvenu neurodevelopmental syndrome [RCV001732100]|not provided [RCV004727061] Chr6:31666904 [GRCh38]
Chr6:31634681 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter) single nucleotide variant Inborn genetic diseases [RCV001266304] Chr6:31668608 [GRCh38]
Chr6:31636385 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.560T>C (p.Leu187Pro) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001261948] Chr6:31669838 [GRCh38]
Chr6:31637615 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.256C>T (p.Arg86Cys) single nucleotide variant Inborn genetic diseases [RCV001266165]|not provided [RCV001664792] Chr6:31668619 [GRCh38]
Chr6:31636396 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic|uncertain significance
NM_001320.7(CSNK2B):c.566G>T (p.Gly189Val) single nucleotide variant Inborn genetic diseases [RCV001265804] Chr6:31669844 [GRCh38]
Chr6:31637621 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.577del (p.His193fs) deletion not provided [RCV001280794] Chr6:31669854 [GRCh38]
Chr6:31637631 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.91C>T (p.Gln31Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001376051] Chr6:31667886 [GRCh38]
Chr6:31635663 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.72+78G>A single nucleotide variant not provided [RCV001694703] Chr6:31666981 [GRCh38]
Chr6:31634758 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.292-132A>G single nucleotide variant not provided [RCV001539744] Chr6:31668965 [GRCh38]
Chr6:31636742 [GRCh37]
Chr6:6p21.33
benign
NM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002249847] Chr6:31667889 [GRCh38]
Chr6:31635666 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro) single nucleotide variant Inborn genetic diseases [RCV004612160]|not provided [RCV002251812] Chr6:31667902 [GRCh38]
Chr6:31635679 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.472del (p.Tyr158fs) deletion Poirier-Bienvenu neurodevelopmental syndrome [RCV001730004] Chr6:31669423 [GRCh38]
Chr6:31637200 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.292-2A>G single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001775388] Chr6:31669095 [GRCh38]
Chr6:31636872 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.367+1G>A single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001733825] Chr6:31669173 [GRCh38]
Chr6:31636950 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.557+1G>A single nucleotide variant not provided [RCV001799935] Chr6:31669509 [GRCh38]
Chr6:31637286 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.557G>T (p.Arg186Met) single nucleotide variant not provided [RCV001766909] Chr6:31669508 [GRCh38]
Chr6:31637285 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.332G>C (p.Arg111Pro) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001775375] Chr6:31669137 [GRCh38]
Chr6:31636914 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.565G>A (p.Gly189Ser) single nucleotide variant not provided [RCV001770655] Chr6:31669843 [GRCh38]
Chr6:31637620 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.236T>C (p.Leu79Pro) single nucleotide variant not provided [RCV001779827] Chr6:31668599 [GRCh38]
Chr6:31636376 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.631G>A (p.Val211Ile) single nucleotide variant not provided [RCV001786870] Chr6:31669909 [GRCh38]
Chr6:31637686 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.194dup (p.Asn65fs) duplication not provided [RCV001816422] Chr6:31668555..31668556 [GRCh38]
Chr6:31636332..31636333 [GRCh37]
Chr6:6p21.33
likely pathogenic
NC_000006.11:g.28005012_31683185del deletion Megacolon [RCV001290055] Chr6:28005012..31683185 [GRCh37]
Chr6:6p22.1-21.33
likely pathogenic
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001808922] Chr6:31669838 [GRCh38]
Chr6:31637615 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.146C>A (p.Ala49Asp) single nucleotide variant not provided [RCV001806939] Chr6:31667941 [GRCh38]
Chr6:31635718 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.70G>T (p.Glu24Ter) single nucleotide variant CSNK2B-related disorder [RCV004545832] Chr6:31666901 [GRCh38]
Chr6:31634678 [GRCh37]
Chr6:6p21.33
not provided
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV001842238] Chr6:31669418 [GRCh38]
Chr6:31637195 [GRCh37]
Chr6:6p21.33
pathogenic|conflicting interpretations of pathogenicity
NM_001320.7(CSNK2B):c.474C>G (p.Tyr158Ter) single nucleotide variant not provided [RCV001847406] Chr6:31669425 [GRCh38]
Chr6:31637202 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.467_468delinsTT (p.Gly156Val) indel Poirier-Bienvenu neurodevelopmental syndrome [RCV001842244] Chr6:31669418..31669419 [GRCh38]
Chr6:31637195..31637196 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.72+2T>G single nucleotide variant Autosomal dominant non-syndromic intellectual disability [RCV002052288] Chr6:31666905 [GRCh38]
Chr6:31634682 [GRCh37]
Chr6:6p21.33
likely pathogenic
GRCh37/hg19 6p21.33(chr6:31384577-31902308) copy number gain not specified [RCV002053564] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.583_586dup (p.Ala196fs) duplication Poirier-Bienvenu neurodevelopmental syndrome [RCV001825158] Chr6:31669859..31669860 [GRCh38]
Chr6:31637636..31637637 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.291+1G>T single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002071022] Chr6:31668655 [GRCh38]
Chr6:31636432 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002246197]|not provided [RCV004729111] Chr6:31668565 [GRCh38]
Chr6:31636342 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002468656]|not provided [RCV002244566] Chr6:31669109 [GRCh38]
Chr6:31636886 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.374C>G (p.Ser125Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002221700]   pathogenic
NM_001320.7(CSNK2B):c.94G>C (p.Asp32His) single nucleotide variant Intellectual disability-craniodigital syndrome [RCV002221707]   pathogenic
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2
uncertain significance
NM_001320.7(CSNK2B):c.27G>A (p.Trp9Ter) single nucleotide variant not provided [RCV003156489] Chr6:31666858 [GRCh38]
Chr6:31634635 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002227636] Chr6:31669154 [GRCh38]
Chr6:31636931 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002249016] Chr6:31667911 [GRCh38]
Chr6:31635688 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.291G>A (p.Met97Ile) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002249017] Chr6:31668654 [GRCh38]
Chr6:31636431 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.495_496del (p.Met166fs) microsatellite Inborn genetic diseases [RCV003164406]|Neurodevelopmental disorder [RCV002277651]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004770436] Chr6:31669444..31669445 [GRCh38]
Chr6:31637221..31637222 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr) single nucleotide variant Neurodevelopmental disorder [RCV002277666]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004596533] Chr6:31669361 [GRCh38]
Chr6:31637138 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.99dup (p.Phe34fs) duplication Poirier-Bienvenu neurodevelopmental syndrome [RCV002289423] Chr6:31667891..31667892 [GRCh38]
Chr6:31635668..31635669 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter) single nucleotide variant Inborn genetic diseases [RCV003308101]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002290076] Chr6:31669397 [GRCh38]
Chr6:31637174 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_001320.7(CSNK2B):c.365T>C (p.Ile122Thr) single nucleotide variant not provided [RCV002474155] Chr6:31669170 [GRCh38]
Chr6:31636947 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV002470194] Chr6:31669847 [GRCh38]
Chr6:31637624 [GRCh37]
Chr6:6p21.33
likely pathogenic|uncertain significance
NM_001320.7(CSNK2B):c.592dup (p.Gln198fs) duplication Poirier-Bienvenu neurodevelopmental syndrome [RCV002468693] Chr6:31669868..31669869 [GRCh38]
Chr6:31637645..31637646 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.286C>T (p.Gln96Ter) single nucleotide variant not provided [RCV002300878] Chr6:31668649 [GRCh38]
Chr6:31636426 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.558-11C>T single nucleotide variant not specified [RCV002308681] Chr6:31669825 [GRCh38]
Chr6:31637602 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.116T>C (p.Leu39Pro) single nucleotide variant Inborn genetic diseases [RCV002712549] Chr6:31667911 [GRCh38]
Chr6:31635688 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.67T>C (p.Cys23Arg) single nucleotide variant Inborn genetic diseases [RCV002717833] Chr6:31666898 [GRCh38]
Chr6:31634675 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs) deletion Inborn genetic diseases [RCV002831557] Chr6:31669413..31669416 [GRCh38]
Chr6:31637190..31637193 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.291+5G>C single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003149116] Chr6:31668659 [GRCh38]
Chr6:31636436 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.368G>A (p.Gly123Asp) single nucleotide variant not provided [RCV003327745] Chr6:31669319 [GRCh38]
Chr6:31637096 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.257G>A (p.Arg86His) single nucleotide variant not provided [RCV003229322] Chr6:31668620 [GRCh38]
Chr6:31636397 [GRCh37]
Chr6:6p21.33
pathogenic|conflicting interpretations of pathogenicity
NM_001320.7(CSNK2B):c.475T>G (p.Phe159Val) single nucleotide variant not provided [RCV003229317] Chr6:31669426 [GRCh38]
Chr6:31637203 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.310G>T (p.Gly104Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003225013] Chr6:31669115 [GRCh38]
Chr6:31636892 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.557+1G>C single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003143862] Chr6:31669509 [GRCh38]
Chr6:31637286 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.501C>T (p.Leu167=) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003225802] Chr6:31669452 [GRCh38]
Chr6:31637229 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.278G>T (p.Gly93Val) single nucleotide variant not provided [RCV003327262] Chr6:31668641 [GRCh38]
Chr6:31636418 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter) single nucleotide variant Inborn genetic diseases [RCV004614421]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003330297] Chr6:31667919 [GRCh38]
Chr6:31635696 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.581C>T (p.Pro194Leu) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003340718] Chr6:31669859 [GRCh38]
Chr6:31637636 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.192del (p.Asp64fs) deletion not provided [RCV003334278] Chr6:31668555 [GRCh38]
Chr6:31636332 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.582G>A (p.Pro194=) single nucleotide variant not provided [RCV003431757] Chr6:31669860 [GRCh38]
Chr6:31637637 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.13G>T (p.Glu5Ter) single nucleotide variant not provided [RCV003431756] Chr6:31666844 [GRCh38]
Chr6:31634621 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.505A>G (p.Met169Val) single nucleotide variant CSNK2B-related disorder [RCV003397536] Chr6:31669456 [GRCh38]
Chr6:31637233 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.175+1G>A single nucleotide variant CSNK2B-related disorder [RCV003397265] Chr6:31667971 [GRCh38]
Chr6:31635748 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.289A>G (p.Met97Val) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003885413] Chr6:31668652 [GRCh38]
Chr6:31636429 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.6C>T (p.Ser2=) single nucleotide variant CSNK2B-related disorder [RCV003952045] Chr6:31666837 [GRCh38]
Chr6:31634614 [GRCh37]
Chr6:6p21.33
likely benign
NM_021221.3(LY6G5B):c.-3007T>C single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003983759] Chr6:31667944 [GRCh38]
Chr6:31635721 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.252C>T (p.His84=) single nucleotide variant CSNK2B-related disorder [RCV003964014] Chr6:31668615 [GRCh38]
Chr6:31636392 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.292T>C (p.Leu98=) single nucleotide variant CSNK2B-related disorder [RCV003966810] Chr6:31669097 [GRCh38]
Chr6:31636874 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.462G>A (p.Thr154=) single nucleotide variant CSNK2B-related disorder [RCV003961971] Chr6:31669413 [GRCh38]
Chr6:31637190 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.95A>C (p.Asp32Ala) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV003885419] Chr6:31667890 [GRCh38]
Chr6:31635667 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.639G>A (p.Thr213=) single nucleotide variant CSNK2B-related disorder [RCV003954591] Chr6:31669917 [GRCh38]
Chr6:31637694 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.59_62dup (p.Phe21fs) duplication not provided [RCV003887744] Chr6:31666889..31666890 [GRCh38]
Chr6:31634666..31634667 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.-1G>C single nucleotide variant CSNK2B-related disorder [RCV003957109] Chr6:31666831 [GRCh38]
Chr6:31634608 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.203A>T (p.Gln68Leu) single nucleotide variant not provided [RCV004585465] Chr6:31668566 [GRCh38]
Chr6:31636343 [GRCh37]
Chr6:6p21.33
uncertain significance
NC_000006.11:g.(?_31631971)_(31895135_?)del deletion not provided [RCV004578802] Chr6:31631971..31895135 [GRCh37]
Chr6:6p21.33
pathogenic
NC_000006.11:g.(?_31620520)_(31937492_?)del deletion not provided [RCV004578883] Chr6:31620520..31937492 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.367+1G>C single nucleotide variant not provided [RCV004697366] Chr6:31669173 [GRCh38]
Chr6:31636950 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.422T>C (p.Met141Thr) single nucleotide variant not provided [RCV004592461] Chr6:31669373 [GRCh38]
Chr6:31637150 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.408C>G (p.Tyr136Ter) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV004594924] Chr6:31669359 [GRCh38]
Chr6:31637136 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.463G>C (p.Asp155His) single nucleotide variant Poirier-Bienvenu neurodevelopmental syndrome [RCV004594926] Chr6:31669414 [GRCh38]
Chr6:31637191 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001320.7(CSNK2B):c.216dup (p.Glu73Ter) duplication not provided [RCV004696835] Chr6:31668577..31668578 [GRCh38]
Chr6:31636354..31636355 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV004727286] Chr6:31666834 [GRCh38]
Chr6:31634611 [GRCh37]
Chr6:6p21.33
pathogenic/likely pathogenic
NM_001320.7(CSNK2B):c.558-2A>G single nucleotide variant not provided [RCV004727677] Chr6:31669834 [GRCh38]
Chr6:31637611 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.647G>C (p.Ter216Ser) single nucleotide variant not provided [RCV004759867]   uncertain significance
NM_001320.7(CSNK2B):c.409T>C (p.Cys137Arg) single nucleotide variant not provided [RCV004727676] Chr6:31669360 [GRCh38]
Chr6:31637137 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001320.7(CSNK2B):c.516C>T (p.Pro172=) single nucleotide variant not provided [RCV004727222] Chr6:31669467 [GRCh38]
Chr6:31637244 [GRCh37]
Chr6:6p21.33
likely benign
NM_001320.7(CSNK2B):c.558-2A>C single nucleotide variant CSNK2B-related disorder [RCV004739039] Chr6:31669834 [GRCh38]
Chr6:31637611 [GRCh37]
Chr6:6p21.33
likely pathogenic
GRCh37/hg19 6p21.33(chr6:31630124-31657924)x1 copy number loss Poirier-Bienvenu neurodevelopmental syndrome [RCV004767742] Chr6:31630124..31657924 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_001320.7(CSNK2B):c.517G>A (p.Glu173Lys) single nucleotide variant not specified [RCV004702975] Chr6:31669468 [GRCh38]
Chr6:31637245 [GRCh37]
Chr6:6p21.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3426
Count of miRNA genes:984
Interacting mature miRNAs:1190
Transcripts:ENST00000375865, ENST00000375866, ENST00000375880, ENST00000375882, ENST00000375885, ENST00000409691, ENST00000465481, ENST00000468255, ENST00000475875, ENST00000481269
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
407139905GWAS788881_HBMI-adjusted hip circumference QTL GWAS788881 (human)4e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)63166816631668167Human
407138817GWAS787793_Hbody height QTL GWAS787793 (human)6e-20body height (VT:0001253)body height (CMO:0000106)63166825431668255Human
407068838GWAS717814_HInguinal hernia QTL GWAS717814 (human)3e-10Inguinal hernia63166896531668966Human
407081158GWAS730134_Hsystemic lupus erythematosus QTL GWAS730134 (human)8e-08systemic lupus erythematosus63166896531668966Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
407079222GWAS728198_Hcutaneous lupus erythematosus QTL GWAS728198 (human)3e-14cutaneous lupus erythematosus63166896531668966Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
407136537GWAS785513_Hanti-anoctamin 2 antibody measurement QTL GWAS785513 (human)0.0000002anti-anoctamin 2 antibody measurement63166825431668255Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human

Markers in Region
G54110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,637,713 - 31,637,844UniSTSGRCh37
Build 36631,745,692 - 31,745,823RGDNCBI36
Celera633,235,934 - 33,236,065RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,423,938 - 31,424,069UniSTS
G54062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,637,669 - 31,637,815UniSTSGRCh37
Build 36631,745,648 - 31,745,794RGDNCBI36
Celera633,235,890 - 33,236,036RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,423,894 - 31,424,040UniSTS
CSNK2B  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,637,619 - 31,637,817UniSTSGRCh37
Build 36631,745,598 - 31,745,796RGDNCBI36
Celera633,235,840 - 33,236,038RGD
HuRef631,423,844 - 31,424,042UniSTS
RH16232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,632,110 - 31,632,238UniSTSGRCh37
Build 36631,740,089 - 31,740,217RGDNCBI36
Celera633,230,331 - 33,230,459RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,418,335 - 31,418,463UniSTS
GeneMap99-GB4 RH Map6145.45UniSTS
MARC_3347-3348:991937077:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,637,116 - 31,637,637UniSTSGRCh37
Build 36631,745,095 - 31,745,616RGDNCBI36
Celera633,235,337 - 33,235,858RGD
HuRef631,423,341 - 31,423,862UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2630 2790 2291 5422 1888 2819 12 743 2487 587 2570 8266 7067 106 3888 2 1020 2008 1953 187 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF129756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL670886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL805934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY113186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BA000025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ643177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX511262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR354443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR753842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB570461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE864459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP121236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP121237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000375865   ⟹   ENSP00000365025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,292 - 31,670,070 (+)Ensembl
Ensembl Acc Id: ENST00000375866   ⟹   ENSP00000365026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,355 - 31,670,070 (+)Ensembl
Ensembl Acc Id: ENST00000375880   ⟹   ENSP00000365040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,102 - 31,673,546 (+)Ensembl
Ensembl Acc Id: ENST00000375882   ⟹   ENSP00000365042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,080 - 31,670,067 (+)Ensembl
Ensembl Acc Id: ENST00000375885   ⟹   ENSP00000365046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,665,236 - 31,670,070 (+)Ensembl
Ensembl Acc Id: ENST00000409691   ⟹   ENSP00000387322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,669,118 - 31,673,546 (+)Ensembl
Ensembl Acc Id: ENST00000465481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,087 - 31,668,830 (+)Ensembl
Ensembl Acc Id: ENST00000468255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,081 - 31,670,343 (+)Ensembl
Ensembl Acc Id: ENST00000475875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,101 - 31,670,067 (+)Ensembl
Ensembl Acc Id: ENST00000481269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,094 - 31,669,464 (+)Ensembl
Ensembl Acc Id: ENST00000617558   ⟹   ENSP00000483989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,666,820 - 31,672,346 (+)Ensembl
Ensembl Acc Id: ENST00000677388   ⟹   ENSP00000504290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,665,227 - 31,670,067 (+)Ensembl
Ensembl Acc Id: ENST00000677536   ⟹   ENSP00000502967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,665,234 - 31,670,074 (+)Ensembl
Ensembl Acc Id: ENST00000677758   ⟹   ENSP00000504242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,665,234 - 31,670,066 (+)Ensembl
RefSeq Acc Id: NM_001282385   ⟹   NP_001269314
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,666,080 - 31,670,067 (+)NCBI
HuRef631,419,882 - 31,424,072 (+)NCBI
CHM1_1631,635,793 - 31,639,983 (+)NCBI
T2T-CHM13v2.0631,519,114 - 31,523,101 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320   ⟹   NP_001311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,666,080 - 31,670,067 (+)NCBI
GRCh37631,632,995 - 31,637,844 (+)NCBI
Build 36631,741,636 - 31,745,822 (+)NCBI Archive
HuRef631,419,882 - 31,424,072 (+)NCBI
CHM1_1631,635,793 - 31,639,983 (+)NCBI
T2T-CHM13v2.0631,519,114 - 31,523,101 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001269314 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD18081 (Get FASTA)   NCBI Sequence Viewer  
  AAI12018 (Get FASTA)   NCBI Sequence Viewer  
  AAI12020 (Get FASTA)   NCBI Sequence Viewer  
  AAM50092 (Get FASTA)   NCBI Sequence Viewer  
  ABC40727 (Get FASTA)   NCBI Sequence Viewer  
  AQY76763 (Get FASTA)   NCBI Sequence Viewer  
  AQY76764 (Get FASTA)   NCBI Sequence Viewer  
  BAB63386 (Get FASTA)   NCBI Sequence Viewer  
  BAG34801 (Get FASTA)   NCBI Sequence Viewer  
  BAG62356 (Get FASTA)   NCBI Sequence Viewer  
  CAA34379 (Get FASTA)   NCBI Sequence Viewer  
  CAA34811 (Get FASTA)   NCBI Sequence Viewer  
  CAA40442 (Get FASTA)   NCBI Sequence Viewer  
  CAG46500 (Get FASTA)   NCBI Sequence Viewer  
  CCI79680 (Get FASTA)   NCBI Sequence Viewer  
  CCI79681 (Get FASTA)   NCBI Sequence Viewer  
  CCI79682 (Get FASTA)   NCBI Sequence Viewer  
  CCI79683 (Get FASTA)   NCBI Sequence Viewer  
  CCI79684 (Get FASTA)   NCBI Sequence Viewer  
  CCI79690 (Get FASTA)   NCBI Sequence Viewer  
  CCI79691 (Get FASTA)   NCBI Sequence Viewer  
  CCI79692 (Get FASTA)   NCBI Sequence Viewer  
  CCI79695 (Get FASTA)   NCBI Sequence Viewer  
  CCI79696 (Get FASTA)   NCBI Sequence Viewer  
  EAX03472 (Get FASTA)   NCBI Sequence Viewer  
  EAX03473 (Get FASTA)   NCBI Sequence Viewer  
  EAX03474 (Get FASTA)   NCBI Sequence Viewer  
  EAX03475 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000365025.2
  ENSP00000365026.2
  ENSP00000365040.2
  ENSP00000365042
  ENSP00000365042.3
  ENSP00000365046.4
  ENSP00000372919.2
  ENSP00000372923.2
  ENSP00000372925.4
  ENSP00000382980.1
  ENSP00000382984.3
  ENSP00000387322.1
  ENSP00000389767.1
  ENSP00000390345.2
  ENSP00000390900.2
  ENSP00000391038.1
  ENSP00000392194.2
  ENSP00000393756.1
  ENSP00000394855.1
  ENSP00000395275.1
  ENSP00000395546.2
  ENSP00000396772.2
  ENSP00000400188.2
  ENSP00000406867.2
  ENSP00000407018.2
  ENSP00000407379.1
  ENSP00000407844.1
  ENSP00000407864.1
  ENSP00000409510.1
  ENSP00000410802.1
  ENSP00000410942.2
  ENSP00000411322.1
  ENSP00000412520.1
  ENSP00000413092.2
  ENSP00000413469.1
  ENSP00000415237.2
  ENSP00000415303.2
  ENSP00000415615.2
  ENSP00000416121.2
  ENSP00000477593.1
  ENSP00000477727.1
  ENSP00000477860.1
  ENSP00000478227.1
  ENSP00000478364.1
  ENSP00000478586.1
  ENSP00000478717.1
  ENSP00000478919.1
  ENSP00000479902.1
  ENSP00000480237.1
  ENSP00000480787.1
  ENSP00000482874.1
  ENSP00000482951.1
  ENSP00000483317.1
  ENSP00000483731.1
  ENSP00000483938.1
  ENSP00000483989.2
  ENSP00000484115.1
  ENSP00000484705.1
  ENSP00000502967
  ENSP00000502967.1
  ENSP00000504242.1
  ENSP00000504290.1
GenBank Protein P67870 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001311   ⟸   NM_001320
- Peptide Label: isoform 1
- UniProtKB: P13862 (UniProtKB/Swiss-Prot),   P07312 (UniProtKB/Swiss-Prot),   B0UXA9 (UniProtKB/Swiss-Prot),   Q4VX47 (UniProtKB/Swiss-Prot),   P67870 (UniProtKB/Swiss-Prot),   N0E4C7 (UniProtKB/TrEMBL),   Q5SRQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269314   ⟸   NM_001282385
- Peptide Label: isoform 2
- UniProtKB: A0A1U9X7J2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000365025   ⟸   ENST00000375865
Ensembl Acc Id: ENSP00000365026   ⟸   ENST00000375866
Ensembl Acc Id: ENSP00000365042   ⟸   ENST00000375882
Ensembl Acc Id: ENSP00000365040   ⟸   ENST00000375880
Ensembl Acc Id: ENSP00000365046   ⟸   ENST00000375885
Ensembl Acc Id: ENSP00000483989   ⟸   ENST00000617558
Ensembl Acc Id: ENSP00000387322   ⟸   ENST00000409691
Ensembl Acc Id: ENSP00000502967   ⟸   ENST00000677536
Ensembl Acc Id: ENSP00000504290   ⟸   ENST00000677388
Ensembl Acc Id: ENSP00000504242   ⟸   ENST00000677758

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P67870-F1-model_v2 AlphaFold P67870 1-215 view protein structure

Promoters
RGD ID:6872568
Promoter ID:EPDNEW_H9449
Type:initiation region
Name:CSNK2B_3
Description:casein kinase 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9450  EPDNEW_H9454  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,665,838 - 31,665,898EPDNEW
RGD ID:6872570
Promoter ID:EPDNEW_H9450
Type:initiation region
Name:CSNK2B_1
Description:casein kinase 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9449  EPDNEW_H9454  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,666,087 - 31,666,147EPDNEW
RGD ID:6872578
Promoter ID:EPDNEW_H9454
Type:initiation region
Name:CSNK2B_2
Description:casein kinase 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9449  EPDNEW_H9450  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,668,621 - 31,668,681EPDNEW
RGD ID:6804150
Promoter ID:HG_KWN:52959
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375865,   ENST00000375866,   ENST00000375872,   ENST00000375873,   ENST00000375875,   ENST00000375885,   OTTHUMT00000076063,   OTTHUMT00000076065,   OTTHUMT00000076069,   OTTHUMT00000144422,   UC003NVS.1,   UC010JSZ.1,   UC010JTA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36631,740,116 - 31,741,512 (+)MPROMDB
RGD ID:6852422
Promoter ID:EP74020
Type:initiation region
Name:HS_CSNK2B
Description:Casein kinase 2, beta polypeptide.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36631,741,594 - 31,741,654EPD
RGD ID:6804152
Promoter ID:HG_KWN:52961
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000409525,   OTTHUMT00000124389,   OTTHUMT00000335081
Position:
Human AssemblyChrPosition (strand)Source
Build 36631,746,326 - 31,746,867 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2460 AgrOrtholog
COSMIC CSNK2B COSMIC
Ensembl Genes ENSG00000204435 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206406 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000224398 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000224774 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000228875 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000230700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000232960 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000258543 UniProtKB/TrEMBL
  ENSG00000258589 UniProtKB/TrEMBL
  ENSG00000263020 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000375865.6 UniProtKB/Swiss-Prot
  ENST00000375866.2 UniProtKB/Swiss-Prot
  ENST00000375880.6 UniProtKB/TrEMBL
  ENST00000375882 ENTREZGENE
  ENST00000375882.7 UniProtKB/Swiss-Prot
  ENST00000375885.8 UniProtKB/TrEMBL
  ENST00000383427.6 UniProtKB/Swiss-Prot
  ENST00000383431.6 UniProtKB/TrEMBL
  ENST00000383433.8 UniProtKB/Swiss-Prot
  ENST00000400110.5 UniProtKB/Swiss-Prot
  ENST00000400116.7 UniProtKB/TrEMBL
  ENST00000409691.1 UniProtKB/TrEMBL
  ENST00000412802.5 UniProtKB/Swiss-Prot
  ENST00000413083.5 UniProtKB/TrEMBL
  ENST00000416194.5 UniProtKB/TrEMBL
  ENST00000418230.5 UniProtKB/Swiss-Prot
  ENST00000422261.6 UniProtKB/TrEMBL
  ENST00000422567.6 UniProtKB/Swiss-Prot
  ENST00000424502.6 UniProtKB/TrEMBL
  ENST00000428483.6 UniProtKB/TrEMBL
  ENST00000429633.5 UniProtKB/Swiss-Prot
  ENST00000431476.5 UniProtKB/Swiss-Prot
  ENST00000432290.6 UniProtKB/TrEMBL
  ENST00000436169.5 UniProtKB/Swiss-Prot
  ENST00000437010.5 UniProtKB/TrEMBL
  ENST00000439572.6 UniProtKB/TrEMBL
  ENST00000443673.6 UniProtKB/Swiss-Prot
  ENST00000443812.6 UniProtKB/TrEMBL
  ENST00000443952.6 UniProtKB/TrEMBL
  ENST00000448596.1 UniProtKB/Swiss-Prot
  ENST00000451335.6 UniProtKB/TrEMBL
  ENST00000451917.6 UniProtKB/Swiss-Prot
  ENST00000452985.6 UniProtKB/Swiss-Prot
  ENST00000453234.5 UniProtKB/Swiss-Prot
  ENST00000454382.6 UniProtKB/Swiss-Prot
  ENST00000454511.5 UniProtKB/Swiss-Prot
  ENST00000455161.1 UniProtKB/Swiss-Prot
  ENST00000457089.6 UniProtKB/TrEMBL
  ENST00000458330.5 UniProtKB/Swiss-Prot
  ENST00000611721.4 UniProtKB/TrEMBL
  ENST00000612713.3 UniProtKB/TrEMBL
  ENST00000613998.1 UniProtKB/TrEMBL
  ENST00000614071.4 UniProtKB/TrEMBL
  ENST00000614783.4 UniProtKB/TrEMBL
  ENST00000614974.4 UniProtKB/TrEMBL
  ENST00000615363.2 UniProtKB/TrEMBL
  ENST00000615589.2 UniProtKB/TrEMBL
  ENST00000615772.4 UniProtKB/TrEMBL
  ENST00000617558.2 UniProtKB/TrEMBL
  ENST00000617578.4 UniProtKB/TrEMBL
  ENST00000619468.4 UniProtKB/TrEMBL
  ENST00000620322.4 UniProtKB/TrEMBL
  ENST00000620798.3 UniProtKB/TrEMBL
  ENST00000621203.1 UniProtKB/TrEMBL
  ENST00000621623.4 UniProtKB/TrEMBL
  ENST00000621953.2 UniProtKB/TrEMBL
  ENST00000622139.3 UniProtKB/TrEMBL
  ENST00000622393.1 UniProtKB/TrEMBL
  ENST00000677388.1 UniProtKB/TrEMBL
  ENST00000677536 ENTREZGENE
  ENST00000677536.1 UniProtKB/TrEMBL
  ENST00000677758.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1820.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.25.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204435 GTEx
  ENSG00000206406 GTEx
  ENSG00000224398 GTEx
  ENSG00000224774 GTEx
  ENSG00000228875 GTEx
  ENSG00000230700 GTEx
  ENSG00000232960 GTEx
  ENSG00000258543 GTEx
  ENSG00000258589 GTEx
  ENSG00000263020 GTEx
HGNC ID HGNC:2460 ENTREZGENE
Human Proteome Map CSNK2B Human Proteome Map
InterPro Casein_kin_II_reg-sub_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Casein_kinase_II_beta-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Casein_kinase_II_reg-sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LY6G5B UniProtKB/TrEMBL
  Snake_toxin-like_sf UniProtKB/TrEMBL
KEGG Report hsa:1460 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1460 ENTREZGENE
OMIM 115441 OMIM
PANTHER CASEIN KINASE II SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LYMPHOCYTE ANTIGEN 6 COMPLEX LOCUS PROTEIN G5B UniProtKB/TrEMBL
  PTHR11740 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14313 UniProtKB/TrEMBL
Pfam CK_II_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26960 PharmGKB
PRINTS CASNKINASEII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CK2_BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CK_II_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57302 UniProtKB/TrEMBL
  SSF57798 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JM12_HUMAN UniProtKB/TrEMBL
  A0A0G2JM58_HUMAN UniProtKB/TrEMBL
  A0A1U9X7J2 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V500_HUMAN UniProtKB/TrEMBL
  A0A7I2YQ78_HUMAN UniProtKB/TrEMBL
  A0A7I2YQQ2_HUMAN UniProtKB/TrEMBL
  B0UXA9 ENTREZGENE
  B4DUJ4_HUMAN UniProtKB/TrEMBL
  CSK2B_HUMAN UniProtKB/Swiss-Prot
  H0Y6P8_HUMAN UniProtKB/TrEMBL
  N0E466_HUMAN UniProtKB/TrEMBL
  N0E472_HUMAN UniProtKB/TrEMBL
  N0E4C7 ENTREZGENE, UniProtKB/TrEMBL
  N0E638_HUMAN UniProtKB/TrEMBL
  N0E644_HUMAN UniProtKB/TrEMBL
  N0E650_HUMAN UniProtKB/TrEMBL
  N0E6I8_HUMAN UniProtKB/TrEMBL
  P07312 ENTREZGENE
  P13862 ENTREZGENE
  P67870 ENTREZGENE
  Q4VX47 ENTREZGENE
  Q5SRQ3 ENTREZGENE, UniProtKB/TrEMBL
  Q5SRQ6_HUMAN UniProtKB/TrEMBL
UniProt Secondary B0UXA9 UniProtKB/Swiss-Prot
  P07312 UniProtKB/Swiss-Prot
  P13862 UniProtKB/Swiss-Prot
  Q4VX47 UniProtKB/Swiss-Prot
  Q5SQ53 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CSNK2B  casein kinase 2 beta  CSNK2B  casein kinase 2, beta polypeptide  Symbol and/or name change 5135510 APPROVED