CDKN2B (cyclin dependent kinase inhibitor 2B) - Rat Genome Database

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Gene: CDKN2B (cyclin dependent kinase inhibitor 2B) Homo sapiens
Analyze
Symbol: CDKN2B
Name: cyclin dependent kinase inhibitor 2B
RGD ID: 1348731
HGNC Page HGNC
Description: Enables cyclin-dependent protein serine/threonine kinase inhibitor activity and protein kinase binding activity. Involved in several processes, including megakaryocyte differentiation; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of phosphorylation. Located in cytoplasm and nucleus. Implicated in carcinoma (multiple); erythema infectiosum; hematologic cancer (multiple); open-angle glaucoma; and urinary bladder cancer. Biomarker of acute myeloid leukemia; carcinoma (multiple); cervix uteri carcinoma in situ; and reproductive organ cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDK inhibitory protein; CDK4B inhibitor; CDK4I; cyclin-dependent kinase 4 inhibitor B; cyclin-dependent kinase inhibitor 2B; cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4); cyclin-dependent kinases 4 and 6 binding protein; INK4B; MTS-2; MTS2; multiple tumor suppressor 2; p14-INK4b; p14_CDK inhibitor; p14_INK4B; P15; p15 CDK inhibitor; p15-INK4b; p15_INK4B; p15INK4b; TP15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl922,002,903 - 22,009,305 (-)EnsemblGRCh38hg38GRCh38
GRCh38922,002,903 - 22,009,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37922,002,902 - 22,009,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,992,902 - 21,999,312 (-)NCBINCBI36hg18NCBI36
Build 34921,992,902 - 21,999,312NCBI
Celera921,941,270 - 21,947,682 (-)NCBI
Cytogenetic Map9p21.3NCBI
HuRef921,966,171 - 21,972,582 (-)NCBIHuRef
CHM1_1922,002,731 - 22,009,141 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
auraptene  (EXP)
avobenzone  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calciol  (ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
cantharidin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cypermethrin  (ISO)
daunorubicin  (EXP)
diallyl disulfide  (ISO)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
dimethylarsinic acid  (ISO)
dimethylarsinous acid  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP,ISO)
Enterolactone  (EXP)
entinostat  (EXP)
fenbendazole  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
fumonisin B1  (ISO)
furan  (ISO)
gefitinib  (EXP)
genistein  (EXP,ISO)
GW 3965  (EXP)
GW 4064  (EXP)
harmine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxyurea  (ISO)
indole-3-methanol  (EXP)
linalool  (EXP)
lithium chloride  (EXP)
manganese(II) chloride  (ISO)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
monoethyl phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
ochratoxin A  (EXP)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP)
pentachlorophenol  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (EXP,ISO)
prednisone  (EXP)
progesterone  (EXP)
quercetin  (EXP)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
ritonavir  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sorafenib  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
urethane  (EXP,ISO)
valproic acid  (EXP)
vorinostat  (EXP)
zinc dichloride  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
cytosol  (TAS)
nucleus  (IDA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal circulating aldosterone  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Adrenocortical abnormality  (IAGP)
Adrenocortical carcinoma  (IAGP)
Amenorrhea  (IAGP)
Angiofibromas  (IAGP)
Anorexia  (IAGP)
Atypical absence status epilepticus  (IAGP)
Coma  (IAGP)
Confetti-like hypopigmented macules  (IAGP)
Confusion  (IAGP)
Constipation  (IAGP)
Cranial nerve compression  (IAGP)
Decreased male libido  (IAGP)
Decreased vigilance  (IAGP)
Dehydration  (IAGP)
Depression  (IAGP)
Dry skin  (IAGP)
Duodenal ulcer  (IAGP)
Elevated calcitonin  (IAGP)
Elevated circulating growth hormone concentration  (IAGP)
Ependymoma  (IAGP)
Freckling  (IAGP)
Galactorrhea  (IAGP)
Gastroesophageal reflux  (IAGP)
Gingival fibromatosis  (IAGP)
Glucagonoma  (IAGP)
Goiter  (IAGP)
Headache  (IAGP)
Hematemesis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypergastrinemia  (IAGP)
Hypertension  (IAGP)
Impairment of activities of daily living  (IAGP)
Impotence  (IAGP)
Increased serum serotonin  (IAGP)
Increased susceptibility to fractures  (IAGP)
Insulinoma  (IAGP)
Intestinal carcinoid  (IAGP)
Large cafe-au-lait macules with irregular margins  (IAGP)
Lethargy  (IAGP)
Lymphoma  (IAGP)
Melanoma  (IAGP)
Melena  (IAGP)
Meningioma  (IAGP)
Multiple lipomas  (IAGP)
Nausea  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the stomach  (IAGP)
Nephrolithiasis  (IAGP)
Nevus  (IAGP)
Osteolysis  (IAGP)
Parathyroid carcinoma  (IAGP)
Parathyroid hyperplasia  (IAGP)
Peptic ulcer  (IAGP)
Pheochromocytoma  (IAGP)
Pituitary corticotropic cell adenoma  (IAGP)
Pituitary gonadotropic cell adenoma  (IAGP)
Pituitary growth hormone cell adenoma  (IAGP)
Pituitary null cell adenoma  (IAGP)
Pituitary prolactin cell adenoma  (IAGP)
Pituitary thyrotropic cell adenoma  (IAGP)
Primary hypercortisolism  (IAGP)
Primary hyperparathyroidism  (IAGP)
Proportionate tall stature  (IAGP)
Pulmonary carcinoid tumor  (IAGP)
Reduced bone mineral density  (IAGP)
Retinopathy  (IAGP)
Schizophrenia  (IAGP)
Short attention span  (IAGP)
Shortened QT interval  (IAGP)
Thymoma  (IAGP)
Thyroid carcinoma  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Zollinger-Ellison syndrome  (IAGP)
References

References - curated
1. Adamovic T, etal., Cancer Genet Cytogenet. 2008 Jul;184(1):9-21.
2. Arcellana-Panlilio MY, etal., Genes Chromosomes Cancer. 2002 Oct;35(2):176-81.
3. Cleary HJ, etal., Leukemia. 1999 Dec;13(12):2049-52.
4. Dimasi DP, etal., Am J Ophthalmol. 2012 Nov;154(5):833-842.e2. doi: 10.1016/j.ajo.2012.04.023. Epub 2012 Jul 27.
5. Eissa S, etal., IUBMB Life. 2004 Sep;56(9):557-64.
6. Faderl S, etal., Cancer. 2000 Nov 1;89(9):1976-82.
7. Feng W, etal., Mod Pathol. 2007 Sep;20(9):961-6. Epub 2007 Jul 13.
8. GOA_HUMAN data from the GO Consortium
9. Gu F, etal., Br J Cancer. 2013 Apr 2;108(6):1378-86. doi: 10.1038/bjc.2013.7. Epub 2013 Jan 29.
10. Hong Q, etal., Exp Ther Med. 2016 May;11(5):1901-1907. Epub 2016 Feb 19.
11. Hu Q, etal., Lab Invest. 2010 Mar;90(3):360-73. doi: 10.1038/labinvest.2009.140. Epub 2010 Jan 11.
12. Kurakawa E, etal., Int J Oncol. 2001 Aug;19(2):277-81.
13. Laharanne E, etal., Mod Pathol. 2010 Apr;23(4):547-58. doi: 10.1038/modpathol.2009.196. Epub 2010 Jan 29.
14. Le Frere-Belda MA, etal., Br J Cancer. 2001 Nov 16;85(10):1515-21.
15. Liu Z, etal., Clin Cancer Res. 2005 Jul 1;11(13):4968-76.
16. Moad AI, etal., J Cutan Pathol. 2009 Feb;36(2):183-9. doi: 10.1111/j.1600-0560.2008.00989.x. Epub 2008 Jun 17.
17. Ogawa K, etal., Oral Oncol. 2006 Mar 7;.
18. Pipeline to import KEGG annotations from KEGG into RGD
19. Raj K, etal., Leukemia. 2007 Sep;21(9):1937-44. Epub 2007 Jul 5.
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Rodrigues EF, etal., Leuk Lymphoma. 2010 Oct;51(10):1887-94. doi: 10.3109/10428194.2010.505820.
23. Schwaller J, etal., Leukemia. 1997 Jan;11(1):54-63.
24. Sherr CJ Cancer Res. 2000 Jul 15;60(14):3689-95.
25. Shimamoto T, etal., Leuk Res. 2005 Jun;29(6):653-9. Epub 2005 Jan 19.
26. Tanaka T, etal., Oncogene. 1999 Jun 24;18(25):3793-7.
27. Teofili L, etal., Leukemia. 2003 May;17(5):919-24.
28. Tessema M, etal., Leukemia. 2003 May;17(5):910-8.
29. Wolff L, etal., Oncogene. 2003 Dec 18;22(58):9265-74.
30. Yalcin A, etal., Int J Lab Hematol. 2009 Aug;31(4):407-19. doi: 10.1111/j.1751-553X.2008.01052.x. Epub 2008 Apr 1.
31. Yurakh AO, etal., Eur Urol. 2006 Sep;50(3):506-15; discussion 515. Epub 2006 Mar 31.
32. Zhang L, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jan;17(1):6-10.
33. Zhang Y, etal., Zhonghua Xue Ye Xue Za Zhi. 2013 Mar;34(3):237-41. doi: 10.3760/cma.j.issn.0253-2727.2013.03.013.
34. Zhang Z, etal., Mod Pathol. 2006 Oct;19(10):1339-43. Epub 2006 Jun 23.
Additional References at PubMed
PMID:7478582   PMID:7675459   PMID:7882351   PMID:7987828   PMID:8001816   PMID:8078588   PMID:8153634   PMID:9042862   PMID:9111314   PMID:9163429   PMID:9230210   PMID:10022865  
PMID:10574984   PMID:10812241   PMID:10892805   PMID:11076863   PMID:11283613   PMID:11668523   PMID:11692873   PMID:11695244   PMID:11859969   PMID:11874489   PMID:11992549   PMID:12007796  
PMID:12036898   PMID:12060387   PMID:12477932   PMID:12556369   PMID:12592382   PMID:12684640   PMID:12970781   PMID:14519636   PMID:14623092   PMID:14696398   PMID:15093610   PMID:15112341  
PMID:15164053   PMID:15475071   PMID:15489334   PMID:15489336   PMID:15523694   PMID:15580267   PMID:15755508   PMID:15813917   PMID:15819981   PMID:15833197   PMID:15917995   PMID:15937071  
PMID:15960923   PMID:15978938   PMID:16169070   PMID:16189514   PMID:16381901   PMID:16618910   PMID:16682076   PMID:16872319   PMID:16890288   PMID:16909113   PMID:16943770   PMID:17008550  
PMID:17074388   PMID:17316622   PMID:17409409   PMID:17459456   PMID:17463246   PMID:17463248   PMID:17463249   PMID:17478679   PMID:17478681   PMID:17513607   PMID:17546638   PMID:17553787  
PMID:17554300   PMID:17597576   PMID:17652530   PMID:17673925   PMID:17803708   PMID:17804762   PMID:17827400   PMID:17885492   PMID:17900658   PMID:17909067   PMID:17920725   PMID:17928989  
PMID:18071362   PMID:18162508   PMID:18174243   PMID:18210030   PMID:18212765   PMID:18281541   PMID:18284544   PMID:18331779   PMID:18332116   PMID:18368387   PMID:18372903   PMID:18426861  
PMID:18437351   PMID:18461161   PMID:18469204   PMID:18477659   PMID:18489844   PMID:18507837   PMID:18516622   PMID:18544707   PMID:18551412   PMID:18591388   PMID:18597214   PMID:18599554  
PMID:18618095   PMID:18625718   PMID:18633108   PMID:18636124   PMID:18694974   PMID:18719881   PMID:18925945   PMID:18984664   PMID:18991055   PMID:18997786   PMID:19002430   PMID:19008344  
PMID:19020323   PMID:19020324   PMID:19033397   PMID:19056611   PMID:19056724   PMID:19082521   PMID:19099629   PMID:19109226   PMID:19124506   PMID:19139842   PMID:19141585   PMID:19144660  
PMID:19164764   PMID:19166692   PMID:19198609   PMID:19200577   PMID:19214202   PMID:19225753   PMID:19228808   PMID:19247372   PMID:19258404   PMID:19258437   PMID:19258477   PMID:19272367  
PMID:19279076   PMID:19293724   PMID:19298278   PMID:19324937   PMID:19368689   PMID:19380854   PMID:19383911   PMID:19401414   PMID:19409979   PMID:19424593   PMID:19443857   PMID:19447967  
PMID:19484265   PMID:19493449   PMID:19501493   PMID:19502414   PMID:19536092   PMID:19559344   PMID:19578363   PMID:19578366   PMID:19578367   PMID:19586936   PMID:19592620   PMID:19594747  
PMID:19602701   PMID:19665068   PMID:19690970   PMID:19720844   PMID:19727727   PMID:19738611   PMID:19741166   PMID:19741467   PMID:19782398   PMID:19794065   PMID:19808892   PMID:19837270  
PMID:19847924   PMID:19862325   PMID:19892838   PMID:19913121   PMID:19933996   PMID:20043145   PMID:20075150   PMID:20161779   PMID:20190193   PMID:20203524   PMID:20215779   PMID:20231302  
PMID:20364137   PMID:20384434   PMID:20386740   PMID:20395613   PMID:20435627   PMID:20453000   PMID:20453838   PMID:20462933   PMID:20490451   PMID:20509872   PMID:20512145   PMID:20548946  
PMID:20549515   PMID:20550665   PMID:20561406   PMID:20571754   PMID:20574843   PMID:20581827   PMID:20596618   PMID:20616309   PMID:20628086   PMID:20637465   PMID:20637757   PMID:20663777  
PMID:20694560   PMID:20712903   PMID:20716961   PMID:20738937   PMID:20802253   PMID:20816152   PMID:20847058   PMID:20858905   PMID:20862607   PMID:20864173   PMID:20879858   PMID:20889853  
PMID:20971364   PMID:20978019   PMID:21048031   PMID:21069533   PMID:21124069   PMID:21151178   PMID:21151960   PMID:21234743   PMID:21239051   PMID:21262917   PMID:21270820   PMID:21378990  
PMID:21414664   PMID:21427129   PMID:21531791   PMID:21573907   PMID:21626137   PMID:21638516   PMID:21757289   PMID:21832049   PMID:21873635   PMID:21889114   PMID:21900206   PMID:21920947  
PMID:21971053   PMID:21988832   PMID:22086844   PMID:22096510   PMID:22134481   PMID:22144573   PMID:22178423   PMID:22199011   PMID:22212460   PMID:22248274   PMID:22293688   PMID:22419738  
PMID:22560925   PMID:22581228   PMID:22619049   PMID:22623142   PMID:22643932   PMID:22706276   PMID:22761751   PMID:22772967   PMID:22961080   PMID:23065809   PMID:23091611   PMID:23104006  
PMID:23162013   PMID:23199516   PMID:23275143   PMID:23315372   PMID:23418593   PMID:23455922   PMID:23464438   PMID:23504555   PMID:23535729   PMID:23547836   PMID:23559091   PMID:23561647  
PMID:23571652   PMID:23580324   PMID:23602568   PMID:23715670   PMID:23718855   PMID:23770605   PMID:23945395   PMID:24012816   PMID:24093775   PMID:24103848   PMID:24302590   PMID:24356749  
PMID:24403052   PMID:24509480   PMID:24573017   PMID:24618291   PMID:24680834   PMID:24716938   PMID:24806561   PMID:24815848   PMID:24908414   PMID:24938701   PMID:24943834   PMID:24968695  
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PMID:26333125   PMID:26362858   PMID:26387756   PMID:26408699   PMID:26470845   PMID:26496610   PMID:26501552   PMID:26577493   PMID:26578655   PMID:26596284   PMID:26782424   PMID:26839018  
PMID:26868379   PMID:26911146   PMID:27008632   PMID:27049325   PMID:27060304   PMID:27090891   PMID:27459612   PMID:27461581   PMID:27486979   PMID:27507036   PMID:27507052   PMID:27541204  
PMID:27622827   PMID:27773886   PMID:27855847   PMID:27905995   PMID:27960642   PMID:27989786   PMID:28052659   PMID:28065479   PMID:28079868   PMID:28205554   PMID:28214350   PMID:28214896  
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PMID:28760552   PMID:28784723   PMID:28870941   PMID:28892048   PMID:29063720   PMID:29105198   PMID:29194093   PMID:29261660   PMID:29265947   PMID:29270737   PMID:29343775   PMID:29348129  
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PMID:30558699   PMID:30635552   PMID:30656483   PMID:30666677   PMID:30722027   PMID:30774116   PMID:31189690   PMID:31270053   PMID:31297846   PMID:31299986   PMID:31305260   PMID:31366490  
PMID:31382782   PMID:31386834   PMID:31515488   PMID:31721021   PMID:31721206   PMID:31804579   PMID:31889028   PMID:32067956   PMID:32271419   PMID:32296183   PMID:32335370   PMID:32492046  
PMID:33009370   PMID:33285697   PMID:33824349  


Genomics

Comparative Map Data
CDKN2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl922,002,903 - 22,009,305 (-)EnsemblGRCh38hg38GRCh38
GRCh38922,002,903 - 22,009,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37922,002,902 - 22,009,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,992,902 - 21,999,312 (-)NCBINCBI36hg18NCBI36
Build 34921,992,902 - 21,999,312NCBI
Celera921,941,270 - 21,947,682 (-)NCBI
Cytogenetic Map9p21.3NCBI
HuRef921,966,171 - 21,972,582 (-)NCBIHuRef
CHM1_1922,002,731 - 22,009,141 (-)NCBICHM1_1
Cdkn2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39489,224,526 - 89,229,269 (-)NCBIGRCm39mm39
GRCm39 Ensembl489,224,536 - 89,229,276 (-)Ensembl
GRCm38489,306,289 - 89,311,032 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl489,306,299 - 89,311,039 (-)EnsemblGRCm38mm10GRCm38
MGSCv37488,952,198 - 88,956,941 (-)NCBIGRCm37mm9NCBIm37
MGSCv36488,777,556 - 88,782,190 (-)NCBImm8
Celera487,792,244 - 87,797,039 (-)NCBICelera
Cytogenetic Map4C4NCBI
cM Map442.15NCBI
Cdkn2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25104,009,839 - 104,019,082 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl5107,845,951 - 107,858,104 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05107,834,353 - 107,857,428 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05111,817,188 - 111,826,334 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45108,939,669 - 108,945,293 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15108,946,492 - 108,950,551 (-)NCBI
Celera5102,728,741 - 102,734,427 (-)NCBICelera
Cytogenetic Map5q32NCBI
Cdkn2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547212,275,544 - 12,280,528 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547212,275,613 - 12,280,141 (+)NCBIChiLan1.0ChiLan1.0
CDKN2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1922,455,662 - 22,462,156 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl922,455,662 - 22,462,156 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0921,838,902 - 21,845,355 (-)NCBIMhudiblu_PPA_v0panPan3
CDKN2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11141,259,627 - 41,264,832 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1139,895,530 - 39,924,805 (-)NCBI
Dog10K_Boxer_Tasha1139,933,406 - 39,936,568 (-)NCBI
ROS_Cfam_1.01142,165,720 - 42,207,150 (-)NCBI
UMICH_Zoey_3.11140,873,681 - 40,876,835 (-)NCBI
UNSW_CanFamBas_1.01140,761,542 - 40,764,705 (-)NCBI
UNSW_CanFamBas_1.01140,723,758 - 40,752,953 (-)NCBI
UU_Cfam_GSD_1.01141,374,892 - 41,378,057 (-)NCBI
Cdkn2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947155,907,481 - 155,911,659 (-)NCBI
SpeTri2.0NW_0049366523,576,975 - 3,582,790 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDKN2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1200,761,004 - 200,766,056 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11200,666,250 - 200,770,880 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21223,955,554 - 223,960,641 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Cdkn2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473625,929,314 - 25,933,318 (-)NCBI

Position Markers
D9S958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,004,965 - 22,005,259UniSTSGRCh37
Build 36921,994,965 - 21,995,259RGDNCBI36
Celera921,943,333 - 21,943,629RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,968,234 - 21,968,530UniSTS
D9S1605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,005,080 - 22,005,187UniSTSGRCh37
Build 36921,995,080 - 21,995,187RGDNCBI36
Celera921,943,448 - 21,943,557RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,968,349 - 21,968,458UniSTS
D9S1752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,005,080 - 22,005,210UniSTSGRCh37
Build 36921,995,080 - 21,995,210RGDNCBI36
Celera921,943,448 - 21,943,580RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,968,349 - 21,968,481UniSTS
GDB:626109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,006,045 - 22,006,191UniSTSGRCh37
GRCh37921,971,006 - 21,971,152UniSTSGRCh37
Build 36921,961,006 - 21,961,152RGDNCBI36
Celera921,944,415 - 21,944,561UniSTS
Celera921,909,358 - 21,909,504RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,969,316 - 21,969,462UniSTS
HuRef921,934,224 - 21,934,370UniSTS
GDB:679533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,008,705 - 22,009,019UniSTSGRCh37
Build 36921,998,705 - 21,999,019RGDNCBI36
Celera921,947,075 - 21,947,389RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,971,975 - 21,972,289UniSTS
GDB:679534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,005,920 - 22,006,306UniSTSGRCh37
Build 36921,995,920 - 21,996,306RGDNCBI36
Celera921,944,290 - 21,944,676RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,969,191 - 21,969,577UniSTS
PMC108944P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,008,801 - 22,008,949UniSTSGRCh37
Build 36921,998,801 - 21,998,949RGDNCBI36
Celera921,947,171 - 21,947,319RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,972,071 - 21,972,219UniSTS
STS-N34320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,002,939 - 22,003,102UniSTSGRCh37
Build 36921,992,939 - 21,993,102RGDNCBI36
Celera921,941,307 - 21,941,470RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,966,208 - 21,966,371UniSTS
GeneMap99-GB4 RH Map969.52UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR374Bhsa-miR-374b-5pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350

Predicted Target Of
Summary Value
Count of predictions:2268
Count of miRNA genes:938
Interacting mature miRNAs:1108
Transcripts:ENST00000276925, ENST00000380142, ENST00000539462, ENST00000579591
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 491 46 107 82 165 47 2121 174 224 63 637 655 44 894 954
Low 1928 2335 1439 382 1012 256 2180 1822 3169 243 785 865 126 310 1830 4 2
Below cutoff 8 603 171 158 624 158 38 177 296 90 21 22 1 1 4 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_078487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF004819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF513858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ844637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ694046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ694047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ694048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX391994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276925   ⟹   ENSP00000276925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl922,002,903 - 22,009,305 (-)Ensembl
RefSeq Acc Id: ENST00000380142   ⟹   ENSP00000369487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl922,004,748 - 22,009,272 (-)Ensembl
RefSeq Acc Id: ENST00000579591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl922,005,203 - 22,006,271 (-)Ensembl
RefSeq Acc Id: NM_004936   ⟹   NP_004927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38922,002,903 - 22,009,305 (-)NCBI
GRCh37922,002,902 - 22,009,312 (-)ENTREZGENE
Build 36921,992,902 - 21,999,312 (-)NCBI Archive
HuRef921,966,171 - 21,972,582 (-)ENTREZGENE
CHM1_1922,002,731 - 22,009,141 (-)NCBI
Sequence:
RefSeq Acc Id: NM_078487   ⟹   NP_511042
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38922,002,903 - 22,009,313 (-)NCBI
GRCh37922,002,902 - 22,009,312 (-)ENTREZGENE
Build 36921,992,902 - 21,999,312 (-)NCBI Archive
HuRef921,966,171 - 21,972,582 (-)ENTREZGENE
CHM1_1922,002,731 - 22,009,141 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004927   ⟸   NM_004936
- Peptide Label: isoform 1
- UniProtKB: P42772 (UniProtKB/Swiss-Prot),   K7PPU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_511042   ⟸   NM_078487
- Peptide Label: isoform 2
- UniProtKB: P42772 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000276925   ⟸   ENST00000276925
RefSeq Acc Id: ENSP00000369487   ⟸   ENST00000380142
Protein Domains
ANK_REP_REGION

Promoters
RGD ID:6813595
Promoter ID:HG_ACW:79958
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:CDKN2B.CAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36921,995,291 - 21,996,142 (-)MPROMDB
RGD ID:6807379
Promoter ID:HG_KWN:62798
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_004936,   NM_078487,   UC010MIY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36921,998,756 - 21,999,552 (-)MPROMDB
RGD ID:7214795
Promoter ID:EPDNEW_H13143
Type:initiation region
Name:CDKN2B_1
Description:cyclin dependent kinase inhibitor 2B
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
GRCh38922,009,305 - 22,009,365EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p21.3(chr9:21708372-22537070)x3 copy number gain See cases [RCV000051050] Chr9:21708372..22537070 [GRCh38]
Chr9:21708371..22537069 [GRCh37]
Chr9:21698371..22527069 [NCBI36]
Chr9:9p21.3
uncertain significance
GRCh38/hg38 9p21.3(chr9:21082471-23839529)x1 copy number loss See cases [RCV000052902] Chr9:21082471..23839529 [GRCh38]
Chr9:21082470..23839527 [GRCh37]
Chr9:21072470..23829527 [NCBI36]
Chr9:9p21.3
pathogenic
GRCh38/hg38 9p21.3(chr9:21985058-22809677)x1 copy number loss See cases [RCV000052903] Chr9:21985058..22809677 [GRCh38]
Chr9:21985057..22809676 [GRCh37]
Chr9:21975057..22799676 [NCBI36]
Chr9:9p21.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_004936.4(CDKN2B):c.157-102G>A single nucleotide variant Three Vessel Coronary Disease [RCV001003464] Chr9:22006349 [GRCh38]
Chr9:22006348 [GRCh37]
Chr9:9p21.3
benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_21968228)_(22160087_?)dup duplication Hereditary melanoma [RCV001313155] Chr9:21968228..22160087 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 copy number loss See cases [RCV000139905] Chr9:19564275..28106622 [GRCh38]
Chr9:19564273..28106620 [GRCh37]
Chr9:19554273..28096620 [NCBI36]
Chr9:9p22.1-21.1
pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_004936.4(CDKN2B):c.256G>A (p.Asp86Asn) single nucleotide variant not provided [RCV000489052] Chr9:22006148 [GRCh38]
Chr9:22006147 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p21.3(chr9:21608134-22490685)x3 copy number gain See cases [RCV000445730] Chr9:21608134..22490685 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1 copy number loss See cases [RCV000448195] Chr9:20951885..22447709 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3 copy number gain See cases [RCV000510665] Chr9:17684434..30889762 [GRCh37]
Chr9:9p22.2-21.1
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
GRCh38/hg38 9p21.3(chr9:21879075-22096084)x0 copy number loss Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626437] Chr9:21879075..22096084 [GRCh38]
Chr9:21879074..22096083 [GRCh37]
Chr9:9p21.3
drug response
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2
drug response
GRCh38/hg38 9p21.3(chr9:21939409-22706614)x0 copy number loss Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626440] Chr9:21939409..22706614 [GRCh38]
Chr9:21939408..22706613 [GRCh37]
Chr9:9p21.3
drug response
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
NM_004936.4(CDKN2B):c.*2619C>T single nucleotide variant Three Vessel Coronary Disease [RCV001003457] Chr9:22003368 [GRCh38]
Chr9:22003367 [GRCh37]
Chr9:9p21.3
protective
Single allele duplication Schizophrenia [RCV000754362] Chr9:20655425..24580688 [GRCh38]
Chr9:9p21.3
likely pathogenic
GRCh37/hg19 9p21.3(chr9:20834837-22101120)x1 copy number loss not provided [RCV000748288] Chr9:20834837..22101120 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3
pathogenic
NM_004936.4(CDKN2B):c.*656A>C single nucleotide variant Three Vessel Coronary Disease [RCV001003461] Chr9:22005331 [GRCh38]
Chr9:22005330 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p21.3(chr9:20715401-22136489) copy number loss not provided [RCV000767562] Chr9:20715401..22136489 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p21.3(chr9:21936290-22082568)x3 copy number gain not provided [RCV001006226] Chr9:21936290..22082568 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3 copy number gain not provided [RCV001006222] Chr9:20829681..22069144 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_004936.4(CDKN2B):c.156+10G>A single nucleotide variant not provided [RCV000930612] Chr9:22008788 [GRCh38]
Chr9:22008787 [GRCh37]
Chr9:9p21.3
likely benign
NM_004936.4(CDKN2B):c.360C>T (p.Ala120=) single nucleotide variant not provided [RCV000973430] Chr9:22006044 [GRCh38]
Chr9:22006043 [GRCh37]
Chr9:9p21.3
benign
NM_004936.4(CDKN2B):c.*2763G>A single nucleotide variant Three Vessel Coronary Disease [RCV001003465] Chr9:22003224 [GRCh38]
Chr9:22003223 [GRCh37]
Chr9:9p21.3
benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.3(chr9:21391297-23423892)x3 copy number gain not provided [RCV001259527] Chr9:21391297..23423892 [GRCh37]
Chr9:9p21.3
uncertain significance
NC_000009.11:g.(?_21968228)_(22160087_?)del deletion Hereditary melanoma [RCV001382627] Chr9:21968228..22160087 [GRCh37]
Chr9:9p21.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1788 AgrOrtholog
COSMIC CDKN2B COSMIC
Ensembl Genes ENSG00000147883 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000276925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369487 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380142 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147883 GTEx
HGNC ID HGNC:1788 ENTREZGENE
Human Proteome Map CDKN2B Human Proteome Map
InterPro Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1030 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1030 ENTREZGENE
OMIM 600431 OMIM
PharmGKB PA26321 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CDN2B_HUMAN UniProtKB/Swiss-Prot
  K7PPU3 ENTREZGENE, UniProtKB/TrEMBL
  P42772 ENTREZGENE
  Q5ZEY8_HUMAN UniProtKB/TrEMBL
  Q8NIA6_HUMAN UniProtKB/TrEMBL
UniProt Secondary O15125 UniProtKB/Swiss-Prot
  Q6FI09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 CDKN2B  cyclin dependent kinase inhibitor 2B    cyclin-dependent kinase inhibitor 2B  Symbol and/or name change 5135510 APPROVED
2016-02-29 CDKN2B  cyclin-dependent kinase inhibitor 2B    cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)  Symbol and/or name change 5135510 APPROVED
2011-08-16 CDKN2B  cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)  CDKN2B  cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)  Symbol and/or name change 5135510 APPROVED