RBL2 (RB transcriptional corepressor like 2) - Rat Genome Database

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Gene: RBL2 (RB transcriptional corepressor like 2) Homo sapiens
Analyze
Symbol: RBL2
Name: RB transcriptional corepressor like 2
RGD ID: 733260
HGNC Page HGNC:9894
Description: Enables promoter-specific chromatin binding activity. Involved in regulation of lipid kinase activity. Acts upstream of or within negative regulation of gene expression. Located in chromosome; cytosol; and nuclear lumen.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 130 kDa retinoblastoma-associated protein; BRUWAG; FLJ26459; P130; PRB2; Rb2; RBR-2; retinoblastoma-like 2; retinoblastoma-like protein 2; retinoblastoma-related protein 2
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
GRCh381653,434,471 - 53,491,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1653,433,977 - 53,491,648 (+)EnsemblGRCh38hg38GRCh38
GRCh371653,468,383 - 53,525,560 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361652,025,901 - 52,083,061 (+)NCBINCBI36Build 36hg18NCBI36
Build 341652,025,900 - 52,083,060NCBI
Celera1637,983,164 - 38,040,371 (+)NCBICelera
Cytogenetic Map16q12.2NCBI
HuRef1639,355,821 - 39,413,031 (+)NCBIHuRef
CHM1_11654,875,514 - 54,932,695 (+)NCBICHM1_1
T2T-CHM13v2.01659,232,279 - 59,289,452 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
atrazine  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
calmidazolium  (EXP)
calyculin a  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP)
Clasto-Lactacystin beta-lactone  (EXP)
clomipramine  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dieldrin  (ISO)
digitonin  (ISO)
dimercaprol  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP)
imipramine  (ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
lamivudine  (EXP)
lead nitrate  (ISO)
leflunomide  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
metacetamol  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nicotine  (EXP)
O-methyleugenol  (ISO)
okadaic acid  (EXP)
oleanolic acid  (EXP,ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
procymidone  (ISO)
promethazine  (ISO)
propiconazole  (ISO)
prostaglandin F2alpha  (ISO)
resveratrol  (EXP)
riddelliine  (EXP)
ritonavir  (EXP)
silicon dioxide  (ISO)
silver(1+) nitrate  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mammalian cyclin-dependent kinases. Malumbres M and Barbacid M, Trends Biochem Sci. 2005 Nov;30(11):630-41. Epub 2005 Oct 19.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1331501   PMID:7760804   PMID:7892279   PMID:8247552   PMID:8253383   PMID:8253384   PMID:8361765   PMID:8643454   PMID:9178770   PMID:9188854   PMID:9233764   PMID:9242374  
PMID:9343408   PMID:9464541   PMID:9472014   PMID:9566894   PMID:9683573   PMID:9697699   PMID:9710587   PMID:9721205   PMID:9724731   PMID:9747874   PMID:9819434   PMID:9858615  
PMID:9891079   PMID:10022926   PMID:10330166   PMID:10376528   PMID:10449734   PMID:10572252   PMID:10766737   PMID:10825149   PMID:10869426   PMID:10969803   PMID:11034201   PMID:11042686  
PMID:11042701   PMID:11157749   PMID:11319226   PMID:11521194   PMID:11571651   PMID:11573202   PMID:11642725   PMID:11756542   PMID:11799066   PMID:11959842   PMID:12006580   PMID:12096339  
PMID:12196924   PMID:12386819   PMID:12401786   PMID:12434308   PMID:12435635   PMID:12450794   PMID:12466551   PMID:12474056   PMID:12477932   PMID:12549820   PMID:12588981   PMID:12621062  
PMID:12637156   PMID:12717421   PMID:12789259   PMID:12789260   PMID:12915404   PMID:12968030   PMID:13679860   PMID:14534545   PMID:14587097   PMID:14671316   PMID:15059924   PMID:15077161  
PMID:15103018   PMID:15131049   PMID:15161709   PMID:15231644   PMID:15271987   PMID:15467457   PMID:15479636   PMID:15577944   PMID:15696973   PMID:15735762   PMID:15750587   PMID:15827088  
PMID:15861133   PMID:15939381   PMID:15949438   PMID:16135806   PMID:16286473   PMID:16344560   PMID:16364039   PMID:16381817   PMID:16397580   PMID:16458891   PMID:16537896   PMID:16600870  
PMID:16760287   PMID:16776654   PMID:16936753   PMID:16936755   PMID:17159899   PMID:17485552   PMID:17531812   PMID:17620057   PMID:17671431   PMID:17694957   PMID:17905135   PMID:18029348  
PMID:18086563   PMID:18321970   PMID:18418057   PMID:18446820   PMID:18676747   PMID:19056867   PMID:19074885   PMID:19252413   PMID:19279001   PMID:19322201   PMID:19453261   PMID:19597825  
PMID:19648966   PMID:19668264   PMID:19694314   PMID:19725879   PMID:19738611   PMID:20009087   PMID:20071580   PMID:20133863   PMID:20189212   PMID:20211142   PMID:20406986   PMID:20800603  
PMID:21102443   PMID:21127431   PMID:21325284   PMID:21411531   PMID:21511729   PMID:21516817   PMID:21813705   PMID:21873635   PMID:21903422   PMID:22002537   PMID:22094256   PMID:22595804  
PMID:22810586   PMID:23108140   PMID:23370776   PMID:23377830   PMID:23443559   PMID:23455922   PMID:23602568   PMID:24045973   PMID:24189068   PMID:24281253   PMID:25100735   PMID:25183046  
PMID:25609649   PMID:25852190   PMID:25917549   PMID:26186194   PMID:26271034   PMID:26576645   PMID:27107012   PMID:28289097   PMID:28514442   PMID:29059406   PMID:29417345   PMID:29606701  
PMID:29987050   PMID:30166342   PMID:30206359   PMID:32105419   PMID:32296183   PMID:32694731   PMID:32707033   PMID:33537097   PMID:33961781   PMID:33980986   PMID:35016035   PMID:35271311  
PMID:35385527   PMID:35914814   PMID:36261009   PMID:36413521   PMID:36736316   PMID:37725511  


Genomics

Comparative Map Data
RBL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381653,434,471 - 53,491,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1653,433,977 - 53,491,648 (+)EnsemblGRCh38hg38GRCh38
GRCh371653,468,383 - 53,525,560 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361652,025,901 - 52,083,061 (+)NCBINCBI36Build 36hg18NCBI36
Build 341652,025,900 - 52,083,060NCBI
Celera1637,983,164 - 38,040,371 (+)NCBICelera
Cytogenetic Map16q12.2NCBI
HuRef1639,355,821 - 39,413,031 (+)NCBIHuRef
CHM1_11654,875,514 - 54,932,695 (+)NCBICHM1_1
T2T-CHM13v2.01659,232,279 - 59,289,452 (+)NCBIT2T-CHM13v2.0
Rbl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39891,796,685 - 91,850,472 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl891,796,685 - 91,850,472 (+)EnsemblGRCm39 Ensembl
GRCm38891,070,057 - 91,123,844 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl891,070,057 - 91,123,844 (+)EnsemblGRCm38mm10GRCm38
MGSCv37893,593,993 - 93,647,743 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36890,825,998 - 90,879,586 (+)NCBIMGSCv36mm8
MGSCv36893,960,214 - 94,013,949 (+)NCBIMGSCv36mm8
Celera895,389,485 - 95,438,924 (+)NCBICelera
Cytogenetic Map8C4NCBI
cM Map844.25NCBI
Rbl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81932,049,690 - 32,096,467 (-)NCBIGRCr8
mRatBN7.21915,876,852 - 15,923,632 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1915,876,853 - 15,923,572 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1917,565,460 - 17,612,163 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01922,760,015 - 22,806,716 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01925,707,582 - 25,754,278 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01917,300,088 - 17,346,865 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1917,300,089 - 17,346,808 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01928,364,200 - 28,410,959 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41917,045,131 - 17,092,597 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11917,049,956 - 17,097,423 (-)NCBI
Celera1915,782,149 - 15,828,852 (-)NCBICelera
Cytogenetic Map19p11NCBI
Rbl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543311,185,077 - 11,237,645 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543311,185,726 - 11,237,645 (+)NCBIChiLan1.0ChiLan1.0
RBL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21862,869,133 - 62,937,383 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11668,787,777 - 68,855,993 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01633,674,751 - 33,731,308 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11652,759,290 - 52,815,685 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1652,759,290 - 52,816,175 (+)Ensemblpanpan1.1panPan2
RBL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1262,263,974 - 62,315,371 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl262,265,293 - 62,315,425 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha258,897,038 - 58,948,437 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0262,805,721 - 62,857,135 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl262,805,721 - 62,857,245 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1259,629,354 - 59,680,520 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0260,649,922 - 60,701,093 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0261,532,307 - 61,583,705 (-)NCBIUU_Cfam_GSD_1.0
Rbl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934953,434,852 - 53,501,832 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364756,086,584 - 6,144,067 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364756,087,055 - 6,140,012 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl631,748,739 - 31,802,022 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1631,757,718 - 31,802,047 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RBL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1539,225,797 - 39,283,550 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl539,225,844 - 39,282,190 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604737,097,718 - 37,155,647 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247573,295,479 - 3,351,928 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247573,295,471 - 3,351,539 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBL2
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 copy number loss See cases [RCV000053329] Chr16:47250644..54121476 [GRCh38]
Chr16:47284555..54155388 [GRCh37]
Chr16:45842056..52712889 [NCBI36]
Chr16:16q12.1-12.2
pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1 copy number loss See cases [RCV000053332] Chr16:50784329..55566715 [GRCh38]
Chr16:50818240..55600627 [GRCh37]
Chr16:49375741..54158128 [NCBI36]
Chr16:16q12.1-12.2
pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1 copy number loss See cases [RCV000137794] Chr16:51749870..53547882 [GRCh38]
Chr16:51783781..53581794 [GRCh37]
Chr16:50341282..52139295 [NCBI36]
Chr16:16q12.1-12.2
uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1 copy number loss See cases [RCV000137722] Chr16:49570553..53467065 [GRCh38]
Chr16:49604464..53500977 [GRCh37]
Chr16:48161965..52058478 [NCBI36]
Chr16:16q12.1-12.2
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1 copy number loss Breast ductal adenocarcinoma [RCV000207292] Chr16:48543083..53879916 [GRCh38]
Chr16:48576994..53913828 [GRCh37]
Chr16:16q12.1-12.2
uncertain significance
NM_005611.4(RBL2):c.1564A>G (p.Ile522Val) single nucleotide variant not specified [RCV004287971] Chr16:53464229 [GRCh38]
Chr16:53498141 [GRCh37]
Chr16:16q12.2
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_005611.4(RBL2):c.3217A>G (p.Ile1073Val) single nucleotide variant not specified [RCV004316308] Chr16:53481803 [GRCh38]
Chr16:53515715 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.301A>G (p.Thr101Ala) single nucleotide variant not specified [RCV004321311] Chr16:53439076 [GRCh38]
Chr16:53472988 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3087G>T (p.Met1029Ile) single nucleotide variant not specified [RCV004288899] Chr16:53481673 [GRCh38]
Chr16:53515585 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.23C>T (p.Ser8Leu) single nucleotide variant not specified [RCV004298094] Chr16:53434579 [GRCh38]
Chr16:53468491 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1073C>T (p.Ala358Val) single nucleotide variant not specified [RCV004299519] Chr16:53454736 [GRCh38]
Chr16:53488648 [GRCh37]
Chr16:16q12.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_005611.4(RBL2):c.162C>T (p.Ser54=) single nucleotide variant not provided [RCV000973539] Chr16:53434718 [GRCh38]
Chr16:53468630 [GRCh37]
Chr16:16q12.2
benign
NM_005611.4(RBL2):c.3033C>T (p.Asn1011=) single nucleotide variant not provided [RCV000923446] Chr16:53480718 [GRCh38]
Chr16:53514630 [GRCh37]
Chr16:16q12.2
likely benign
NM_005611.4(RBL2):c.423A>G (p.Leu141=) single nucleotide variant not provided [RCV000964352] Chr16:53442709 [GRCh38]
Chr16:53476621 [GRCh37]
Chr16:16q12.2
benign
NM_005611.4(RBL2):c.1375A>G (p.Ile459Val) single nucleotide variant RBL2-related disorder [RCV003930811]|not provided [RCV000891818] Chr16:53461769 [GRCh38]
Chr16:53495681 [GRCh37]
Chr16:16q12.2
likely benign
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21
uncertain significance
NM_005611.4(RBL2):c.899C>G (p.Pro300Arg) single nucleotide variant not specified [RCV004292889] Chr16:53453584 [GRCh38]
Chr16:53487496 [GRCh37]
Chr16:16q12.2
uncertain significance
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21
pathogenic
NM_005611.4(RBL2):c.2487A>T (p.Arg829Ser) single nucleotide variant not provided [RCV000974028] Chr16:53470624 [GRCh38]
Chr16:53504536 [GRCh37]
Chr16:16q12.2
benign
NM_005611.4(RBL2):c.2556G>A (p.Arg852=) single nucleotide variant not provided [RCV000963491] Chr16:53470775 [GRCh38]
Chr16:53504687 [GRCh37]
Chr16:16q12.2
benign|likely benign
NM_005611.4(RBL2):c.1646A>T (p.Asn549Ile) single nucleotide variant not provided [RCV000964353] Chr16:53464311 [GRCh38]
Chr16:53498223 [GRCh37]
Chr16:16q12.2
benign
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter) single nucleotide variant Brunet-Wagner neurodevelopmental syndrome [RCV001807545] Chr16:53442842 [GRCh38]
Chr16:53476754 [GRCh37]
Chr16:16q12.2
pathogenic|likely pathogenic
NM_005611.4(RBL2):c.926dup (p.Leu310fs) duplication Brunet-Wagner neurodevelopmental syndrome [RCV001807547] Chr16:53453604..53453605 [GRCh38]
Chr16:53487516..53487517 [GRCh37]
Chr16:16q12.2
pathogenic
NM_005611.4(RBL2):c.573-1358_766+5del deletion Brunet-Wagner neurodevelopmental syndrome [RCV001807548] Chr16:53445684..53451836 [GRCh38]
Chr16:53479596..53485748 [GRCh37]
Chr16:16q12.2
pathogenic
NM_005611.4(RBL2):c.1596_1597del (p.Leu533fs) microsatellite Brunet-Wagner neurodevelopmental syndrome [RCV001808866] Chr16:53464256..53464257 [GRCh38]
Chr16:53498168..53498169 [GRCh37]
Chr16:16q12.2
pathogenic
NC_000016.9:g.(53498276_53499349)_(53504835_53513065)del deletion Brunet-Wagner neurodevelopmental syndrome [RCV001807546]   pathogenic
NM_005611.4(RBL2):c.1948C>T (p.Arg650Cys) single nucleotide variant See cases [RCV001839390] Chr16:53467142 [GRCh38]
Chr16:53501054 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2983A>G (p.Ser995Gly) single nucleotide variant See cases [RCV001839391] Chr16:53480668 [GRCh38]
Chr16:53514580 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.901dup (p.Tyr301fs) duplication Brunet-Wagner neurodevelopmental syndrome [RCV001824098] Chr16:53453585..53453586 [GRCh38]
Chr16:53487497..53487498 [GRCh37]
Chr16:16q12.2
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_005611.4(RBL2):c.3382C>T (p.Arg1128Cys) single nucleotide variant not provided [RCV003234275] Chr16:53490262 [GRCh38]
Chr16:53524174 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3185A>C (p.Lys1062Thr) single nucleotide variant not specified [RCV004316085] Chr16:53481771 [GRCh38]
Chr16:53515683 [GRCh37]
Chr16:16q12.2
uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21
pathogenic
NM_005611.4(RBL2):c.1033G>A (p.Val345Ile) single nucleotide variant not specified [RCV004146631] Chr16:53454696 [GRCh38]
Chr16:53488608 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3061G>A (p.Ala1021Thr) single nucleotide variant not specified [RCV004160531] Chr16:53480746 [GRCh38]
Chr16:53514658 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2576A>G (p.Asp859Gly) single nucleotide variant not specified [RCV004089201] Chr16:53470795 [GRCh38]
Chr16:53504707 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1425G>T (p.Gln475His) single nucleotide variant not specified [RCV004084549] Chr16:53461819 [GRCh38]
Chr16:53495731 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.91G>A (p.Ala31Thr) single nucleotide variant not specified [RCV004163898] Chr16:53434647 [GRCh38]
Chr16:53468559 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1252C>T (p.Pro418Ser) single nucleotide variant not specified [RCV004188763] Chr16:53459523 [GRCh38]
Chr16:53493435 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2336C>T (p.Pro779Leu) single nucleotide variant not specified [RCV004222837] Chr16:53470473 [GRCh38]
Chr16:53504385 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.904A>G (p.Ile302Val) single nucleotide variant not specified [RCV004157049] Chr16:53453589 [GRCh38]
Chr16:53487501 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2095C>T (p.Pro699Ser) single nucleotide variant not specified [RCV004243032] Chr16:53470035 [GRCh38]
Chr16:53503947 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1181C>T (p.Ser394Phe) single nucleotide variant not specified [RCV004161887] Chr16:53459452 [GRCh38]
Chr16:53493364 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1051C>T (p.Arg351Trp) single nucleotide variant not specified [RCV004177639] Chr16:53454714 [GRCh38]
Chr16:53488626 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2948C>G (p.Ala983Gly) single nucleotide variant not specified [RCV004073544] Chr16:53480633 [GRCh38]
Chr16:53514545 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1261A>C (p.Thr421Pro) single nucleotide variant not specified [RCV004150252] Chr16:53459532 [GRCh38]
Chr16:53493444 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1714A>G (p.Ile572Val) single nucleotide variant not specified [RCV004203569] Chr16:53465453 [GRCh38]
Chr16:53499365 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1669T>C (p.Phe557Leu) single nucleotide variant not specified [RCV004134484] Chr16:53464334 [GRCh38]
Chr16:53498246 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.247G>A (p.Asp83Asn) single nucleotide variant not specified [RCV004231981] Chr16:53439022 [GRCh38]
Chr16:53472934 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2369G>A (p.Ser790Asn) single nucleotide variant not specified [RCV004119815] Chr16:53470506 [GRCh38]
Chr16:53504418 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3310A>G (p.Ile1104Val) single nucleotide variant not specified [RCV004074099] Chr16:53490190 [GRCh38]
Chr16:53524102 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.251T>A (p.Leu84His) single nucleotide variant not specified [RCV004113232] Chr16:53439026 [GRCh38]
Chr16:53472938 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2125G>A (p.Val709Met) single nucleotide variant not specified [RCV004175940] Chr16:53470065 [GRCh38]
Chr16:53503977 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2498C>T (p.Thr833Ile) single nucleotide variant not specified [RCV004182370] Chr16:53470635 [GRCh38]
Chr16:53504547 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.268G>A (p.Ala90Thr) single nucleotide variant not specified [RCV004277372] Chr16:53439043 [GRCh38]
Chr16:53472955 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1484C>T (p.Ala495Val) single nucleotide variant not specified [RCV004262345] Chr16:53462579 [GRCh38]
Chr16:53496491 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.442C>T (p.Arg148Cys) single nucleotide variant not specified [RCV004266583] Chr16:53442728 [GRCh38]
Chr16:53476640 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2920A>C (p.Thr974Pro) single nucleotide variant not specified [RCV004263403] Chr16:53480605 [GRCh38]
Chr16:53514517 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1767T>G (p.Ile589Met) single nucleotide variant not specified [RCV004254063] Chr16:53465506 [GRCh38]
Chr16:53499418 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.250C>T (p.Leu84Phe) single nucleotide variant not specified [RCV004248265] Chr16:53439025 [GRCh38]
Chr16:53472937 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3088G>C (p.Asp1030His) single nucleotide variant not specified [RCV004306570] Chr16:53481674 [GRCh38]
Chr16:53515586 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2990T>C (p.Met997Thr) single nucleotide variant not specified [RCV004323380] Chr16:53480675 [GRCh38]
Chr16:53514587 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.346A>G (p.Arg116Gly) single nucleotide variant not specified [RCV004335766] Chr16:53439121 [GRCh38]
Chr16:53473033 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3137G>A (p.Arg1046His) single nucleotide variant not specified [RCV004359584] Chr16:53481723 [GRCh38]
Chr16:53515635 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2930T>C (p.Val977Ala) single nucleotide variant not specified [RCV004358732] Chr16:53480615 [GRCh38]
Chr16:53514527 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.277G>A (p.Val93Met) single nucleotide variant not specified [RCV004355495] Chr16:53439052 [GRCh38]
Chr16:53472964 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1241C>T (p.Pro414Leu) single nucleotide variant not specified [RCV004350207] Chr16:53459512 [GRCh38]
Chr16:53493424 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.574C>T (p.Arg192Ter) single nucleotide variant Brunet-Wagner neurodevelopmental syndrome [RCV003484516] Chr16:53447043 [GRCh38]
Chr16:53480955 [GRCh37]
Chr16:16q12.2
pathogenic
NM_005611.4(RBL2):c.142C>T (p.Arg48Trp) single nucleotide variant not provided [RCV004775560]|not specified [RCV004441071] Chr16:53434698 [GRCh38]
Chr16:53468610 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2174A>G (p.Gln725Arg) single nucleotide variant not specified [RCV004441075] Chr16:53470114 [GRCh38]
Chr16:53504026 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2462A>C (p.Gln821Pro) single nucleotide variant not specified [RCV004441077] Chr16:53470599 [GRCh38]
Chr16:53504511 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2719A>G (p.Lys907Glu) single nucleotide variant not specified [RCV004441078] Chr16:53479169 [GRCh38]
Chr16:53513081 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3003G>T (p.Glu1001Asp) single nucleotide variant not specified [RCV004441082] Chr16:53480688 [GRCh38]
Chr16:53514600 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.100G>T (p.Ala34Ser) single nucleotide variant not specified [RCV004441067] Chr16:53434656 [GRCh38]
Chr16:53468568 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1519A>G (p.Ile507Val) single nucleotide variant not specified [RCV004441072] Chr16:53462614 [GRCh38]
Chr16:53496526 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.485T>A (p.Ile162Asn) single nucleotide variant not specified [RCV004441083] Chr16:53442771 [GRCh38]
Chr16:53476683 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2734A>G (p.Ile912Val) single nucleotide variant not specified [RCV004441079] Chr16:53479184 [GRCh38]
Chr16:53513096 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2767C>T (p.Arg923Trp) single nucleotide variant not specified [RCV004441080] Chr16:53479217 [GRCh38]
Chr16:53513129 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1268C>T (p.Thr423Met) single nucleotide variant not specified [RCV004441069] Chr16:53459539 [GRCh38]
Chr16:53493451 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1541T>G (p.Leu514Arg) single nucleotide variant not specified [RCV004441073] Chr16:53462636 [GRCh38]
Chr16:53496548 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1895A>G (p.Asp632Gly) single nucleotide variant not specified [RCV004441074] Chr16:53467089 [GRCh38]
Chr16:53501001 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1472_1473del (p.His491fs) deletion Brunet-Wagner neurodevelopmental syndrome [RCV003990363] Chr16:53462567..53462568 [GRCh38]
Chr16:53496479..53496480 [GRCh37]
Chr16:16q12.2
likely pathogenic
NM_005611.4(RBL2):c.1373C>T (p.Ala458Val) single nucleotide variant not specified [RCV004441070] Chr16:53461767 [GRCh38]
Chr16:53495679 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2300G>C (p.Gly767Ala) single nucleotide variant not specified [RCV004441076] Chr16:53470437 [GRCh38]
Chr16:53504349 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2785A>C (p.Ser929Arg) single nucleotide variant not provided [RCV004775561]|not specified [RCV004441081] Chr16:53479895 [GRCh38]
Chr16:53513807 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.562A>G (p.Arg188Gly) single nucleotide variant not specified [RCV004441085] Chr16:53442848 [GRCh38]
Chr16:53476760 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.53C>T (p.Ala18Val) single nucleotide variant not specified [RCV004660755] Chr16:53434609 [GRCh38]
Chr16:53468521 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.761T>G (p.Phe254Cys) single nucleotide variant not specified [RCV004660756] Chr16:53451826 [GRCh38]
Chr16:53485738 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1148T>G (p.Met383Arg) single nucleotide variant not specified [RCV004660759] Chr16:53454811 [GRCh38]
Chr16:53488723 [GRCh37]
Chr16:16q12.2
uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1
likely pathogenic
NM_005611.4(RBL2):c.596A>G (p.Glu199Gly) single nucleotide variant not specified [RCV004671679] Chr16:53447065 [GRCh38]
Chr16:53480977 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1088G>A (p.Gly363Glu) single nucleotide variant not specified [RCV004671681] Chr16:53454751 [GRCh38]
Chr16:53488663 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.847C>T (p.His283Tyr) single nucleotide variant not specified [RCV004671682] Chr16:53453532 [GRCh38]
Chr16:53487444 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.2161C>G (p.Pro721Ala) single nucleotide variant not specified [RCV004660754] Chr16:53470101 [GRCh38]
Chr16:53504013 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.332A>G (p.Tyr111Cys) single nucleotide variant not specified [RCV004660758] Chr16:53439107 [GRCh38]
Chr16:53473019 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.517A>G (p.Ile173Val) single nucleotide variant not specified [RCV004660753] Chr16:53442803 [GRCh38]
Chr16:53476715 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.3088G>A (p.Asp1030Asn) single nucleotide variant not specified [RCV004660757] Chr16:53481674 [GRCh38]
Chr16:53515586 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1631A>G (p.Tyr544Cys) single nucleotide variant not provided [RCV004724028] Chr16:53464296 [GRCh38]
Chr16:53498208 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_005611.4(RBL2):c.1179+1_1179+5del deletion not provided [RCV004761008]   uncertain significance
NM_005611.4(RBL2):c.3139C>T (p.Arg1047Ter) single nucleotide variant Brunet-Wagner neurodevelopmental syndrome [RCV004723700] Chr16:53481725 [GRCh38]
Chr16:53515637 [GRCh37]
Chr16:16q12.2
likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR17hsa-miR-17-5pOncomiRDBexternal_infoNANA23250421
MIR106Bhsa-miR-106b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23377830

Predicted Target Of
Summary Value
Count of predictions:1469
Count of miRNA genes:846
Interacting mature miRNAs:1002
Transcripts:ENST00000262133, ENST00000379935, ENST00000544405, ENST00000544545, ENST00000561512, ENST00000562837, ENST00000562850, ENST00000564605, ENST00000567964
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
407192836GWAS841812_Heducational attainment QTL GWAS841812 (human)1e-10educational attainment165344033853440339Human
407205636GWAS854612_Hinsulin measurement QTL GWAS854612 (human)0.0000005insulin measurementpancreatic islet insulin release measurement (CMO:0001216)165346070553460706Human
407175494GWAS824470_HHeadache, fasting blood insulin measurement QTL GWAS824470 (human)8e-09Headache, fasting blood insulin measurementblood insulin level (CMO:0000349)165346070553460706Human
407120455GWAS769431_Hcognitive function measurement QTL GWAS769431 (human)9e-21cognitive function measurement165346474353464744Human
407110663GWAS759639_Hcognitive function measurement QTL GWAS759639 (human)7e-17cognitive function measurement165346474353464744Human
407346627GWAS995603_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS995603 (human)1e-15attention deficit hyperactivity disorder, autism spectrum disorder, intelligence165346474353464744Human
407159692GWAS808668_Htype 2 diabetes mellitus QTL GWAS808668 (human)3e-10type 2 diabetes mellitus165346803453468035Human
407328847GWAS977823_Heducational attainment QTL GWAS977823 (human)2e-40educational attainment165347489053474891Human
407351883GWAS1000859_HBMI-adjusted hip circumference QTL GWAS1000859 (human)6e-18BMI-adjusted hip circumferencehip circumference (CMO:0000014)165347003153470032Human
407351882GWAS1000858_HBMI-adjusted hip circumference QTL GWAS1000858 (human)2e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)165346070553460706Human
407188938GWAS837914_Hglomerular filtration rate QTL GWAS837914 (human)4e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)165348291253482913Human
406991188GWAS640164_Hintelligence QTL GWAS640164 (human)4e-09intelligence165346070553460706Human
407011029GWAS660005_Hlifestyle measurement QTL GWAS660005 (human)8e-13lifestyle measurement165347521953475220Human
407101210GWAS750186_Hbody mass index QTL GWAS750186 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)165346919853469199Human
407303135GWAS952111_Hlean body mass QTL GWAS952111 (human)4e-23body lean mass (VT:0010483)total body lean mass (CMO:0003950)165347489053474891Human
407047772GWAS696748_Hneuroticism measurement, cognitive function measurement QTL GWAS696748 (human)2e-14neuroticism measurement, cognitive function measurement165346386253463863Human
406925985GWAS574961_Hbody height QTL GWAS574961 (human)1e-26body height (VT:0001253)body height (CMO:0000106)165344709853447099Human
407093091GWAS742067_HBMI-adjusted waist-hip ratio QTL GWAS742067 (human)6e-14BMI-adjusted waist-hip ratio165346474353464744Human
407261735GWAS910711_Hverbal-numerical reasoning measurement QTL GWAS910711 (human)2e-12verbal-numerical reasoning measurement165345725953457260Human
406947170GWAS596146_Hintelligence QTL GWAS596146 (human)3e-12intelligence165347489053474891Human
406909478GWAS558454_Hbody height QTL GWAS558454 (human)0.000002body height (VT:0001253)body height (CMO:0000106)165344382053443821Human
407069032GWAS718008_Hwaist-hip ratio QTL GWAS718008 (human)2e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)165346474353464744Human
407176174GWAS825150_Happendicular lean mass QTL GWAS825150 (human)9e-52appendicular lean mass165347489053474891Human
407361834GWAS1010810_HBMI-adjusted waist-hip ratio QTL GWAS1010810 (human)2e-14BMI-adjusted waist-hip ratio165347003153470032Human
407284264GWAS933240_Hbody height QTL GWAS933240 (human)3e-303body height (VT:0001253)body height (CMO:0000106)165344709853447099Human
407340403GWAS989379_Hbody height QTL GWAS989379 (human)3e-32body height (VT:0001253)body height (CMO:0000106)165344213053442131Human
407104695GWAS753671_Hbody height QTL GWAS753671 (human)1e-55body height (VT:0001253)body height (CMO:0000106)165344709853447099Human
407060347GWAS709323_Hintelligence QTL GWAS709323 (human)4e-15intelligence165346474353464744Human
406925240GWAS574216_Happendicular lean mass QTL GWAS574216 (human)6e-10appendicular lean mass165347003153470032Human
406982905GWAS631881_Hhealth study participation QTL GWAS631881 (human)4e-09health study participation165345725953457260Human
407353467GWAS1002443_HBMI-adjusted waist-hip ratio QTL GWAS1002443 (human)1e-13BMI-adjusted waist-hip ratio165347003153470032Human
407036349GWAS685325_Hcognitive function measurement, self reported educational attainment QTL GWAS685325 (human)2e-16cognitive function measurement, self reported educational attainment165346474353464744Human
407076668GWAS725644_Hself reported educational attainment QTL GWAS725644 (human)3e-10self reported educational attainment165348670153486702Human

Markers in Region
SHGC-60585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371653,521,555 - 53,521,806UniSTSGRCh37
Build 361652,079,056 - 52,079,307RGDNCBI36
Celera1638,036,366 - 38,036,617RGD
Cytogenetic Map16q12.2UniSTS
HuRef1639,409,025 - 39,409,276UniSTS
GeneMap99-GB4 RH Map16349.17UniSTS
Whitehead-RH Map16262.0UniSTS
RH75186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37524,171,805 - 24,172,000UniSTSGRCh37
GRCh371653,525,675 - 53,525,871UniSTSGRCh37
Build 36524,207,562 - 24,207,757RGDNCBI36
Celera524,060,151 - 24,060,346RGD
Celera1638,040,486 - 38,040,682UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5p14.2UniSTS
HuRef524,139,620 - 24,139,815UniSTS
HuRef1639,413,146 - 39,413,342UniSTS
G19455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371653,524,252 - 53,524,500UniSTSGRCh37
Build 361652,081,753 - 52,082,001RGDNCBI36
Celera1638,039,063 - 38,039,311RGD
Cytogenetic Map16q12.2UniSTS
HuRef1639,411,723 - 39,411,971UniSTS
RBL2_1295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371653,524,957 - 53,525,591UniSTSGRCh37
Build 361652,082,458 - 52,083,092RGDNCBI36
Celera1638,039,768 - 38,040,402RGD
HuRef1639,412,428 - 39,413,062UniSTS
RH68342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371653,515,631 - 53,515,762UniSTSGRCh37
Build 361652,073,132 - 52,073,263RGDNCBI36
Celera1638,030,442 - 38,030,573RGD
Cytogenetic Map16q12.2UniSTS
HuRef1639,403,101 - 39,403,232UniSTS
GeneMap99-GB4 RH Map16350.1UniSTS
RH66716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371653,521,676 - 53,521,806UniSTSGRCh37
Build 361652,079,177 - 52,079,307RGDNCBI36
Celera1638,036,487 - 38,036,617RGD
Cytogenetic Map16q12.2UniSTS
HuRef1639,409,146 - 39,409,276UniSTS
GeneMap99-GB4 RH Map16372.93UniSTS
D16S2536E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371653,524,770 - 53,524,910UniSTSGRCh37
Build 361652,082,271 - 52,082,411RGDNCBI36
Celera1638,039,581 - 38,039,721RGD
Cytogenetic Map16q12.2UniSTS
HuRef1639,412,241 - 39,412,381UniSTS
GeneMap99-GB4 RH Map16349.86UniSTS
NCBI RH Map16369.2UniSTS
RH65767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371653,525,010 - 53,525,142UniSTSGRCh37
Build 361652,082,511 - 52,082,643RGDNCBI36
Celera1638,039,821 - 38,039,953RGD
Cytogenetic Map16q12.2UniSTS
HuRef1639,412,481 - 39,412,613UniSTS
GeneMap99-GB4 RH Map16351.05UniSTS


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
1204 2436 2788 2247 4949 1723 2349 4 623 1951 465 2268 7293 6462 52 3714 1 851 1739 1614 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB017942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U53220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262133   ⟹   ENSP00000262133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,434,471 - 53,491,648 (+)Ensembl
Ensembl Acc Id: ENST00000379935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,445,781 - 53,491,648 (+)Ensembl
Ensembl Acc Id: ENST00000544405   ⟹   ENSP00000443744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,435,619 - 53,470,079 (+)Ensembl
Ensembl Acc Id: ENST00000561512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,461,769 - 53,464,877 (+)Ensembl
Ensembl Acc Id: ENST00000562837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,466,774 - 53,470,257 (+)Ensembl
Ensembl Acc Id: ENST00000562850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,464,291 - 53,466,109 (+)Ensembl
Ensembl Acc Id: ENST00000564605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,479,546 - 53,480,755 (+)Ensembl
Ensembl Acc Id: ENST00000567964   ⟹   ENSP00000462464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,433,977 - 53,453,463 (+)Ensembl
Ensembl Acc Id: ENST00000680543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1653,434,418 - 53,491,628 (+)Ensembl
RefSeq Acc Id: NM_001323608   ⟹   NP_001310537
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,434,471 - 53,491,648 (+)NCBI
CHM1_11654,875,495 - 54,932,695 (+)NCBI
T2T-CHM13v2.01659,232,279 - 59,289,452 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323609   ⟹   NP_001310538
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,434,471 - 53,491,648 (+)NCBI
CHM1_11654,875,495 - 54,932,695 (+)NCBI
T2T-CHM13v2.01659,232,279 - 59,289,452 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323610   ⟹   NP_001310539
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,434,471 - 53,491,648 (+)NCBI
CHM1_11654,875,495 - 54,932,695 (+)NCBI
T2T-CHM13v2.01659,232,279 - 59,289,452 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323611   ⟹   NP_001310540
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,435,619 - 53,491,648 (+)NCBI
CHM1_11654,876,694 - 54,932,695 (+)NCBI
T2T-CHM13v2.01659,233,427 - 59,289,452 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005611   ⟹   NP_005602
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,434,471 - 53,491,648 (+)NCBI
GRCh371653,468,351 - 53,525,560 (+)ENTREZGENE
Build 361652,025,901 - 52,083,061 (+)NCBI Archive
HuRef1639,355,821 - 39,413,031 (+)ENTREZGENE
CHM1_11654,875,514 - 54,932,695 (+)NCBI
T2T-CHM13v2.01659,232,279 - 59,289,452 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523253   ⟹   XP_011521555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,445,776 - 53,491,648 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434414   ⟹   XP_047290370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,442,677 - 53,491,648 (+)NCBI
RefSeq Acc Id: XM_054313572   ⟹   XP_054169547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01659,240,480 - 59,289,452 (+)NCBI
RefSeq Acc Id: XM_054313573   ⟹   XP_054169548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01659,243,228 - 59,289,452 (+)NCBI
RefSeq Acc Id: NP_005602   ⟸   NM_005611
- Peptide Label: isoform 1
- UniProtKB: Q8NE70 (UniProtKB/Swiss-Prot),   Q16084 (UniProtKB/Swiss-Prot),   Q15073 (UniProtKB/Swiss-Prot),   B7Z913 (UniProtKB/Swiss-Prot),   Q92812 (UniProtKB/Swiss-Prot),   Q08999 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521555   ⟸   XM_011523253
- Peptide Label: isoform X2
- UniProtKB: Q7Z3L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310537   ⟸   NM_001323608
- Peptide Label: isoform 1
- UniProtKB: Q8NE70 (UniProtKB/Swiss-Prot),   Q16084 (UniProtKB/Swiss-Prot),   Q15073 (UniProtKB/Swiss-Prot),   B7Z913 (UniProtKB/Swiss-Prot),   Q92812 (UniProtKB/Swiss-Prot),   Q08999 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310538   ⟸   NM_001323609
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001310539   ⟸   NM_001323610
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001310540   ⟸   NM_001323611
- Peptide Label: isoform 4
- Sequence:
Ensembl Acc Id: ENSP00000443744   ⟸   ENST00000544405
Ensembl Acc Id: ENSP00000262133   ⟸   ENST00000262133
Ensembl Acc Id: ENSP00000462464   ⟸   ENST00000567964
RefSeq Acc Id: XP_047290370   ⟸   XM_047434414
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169547   ⟸   XM_054313572
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169548   ⟸   XM_054313573
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08999-F1-model_v2 AlphaFold Q08999 1-1139 view protein structure

Promoters
RGD ID:6793415
Promoter ID:HG_KWN:23806
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005611
Position:
Human AssemblyChrPosition (strand)Source
Build 361652,025,836 - 52,026,336 (+)MPROMDB
RGD ID:6811023
Promoter ID:HG_ACW:30707
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:RBL2.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361652,026,386 - 52,026,922 (+)MPROMDB
RGD ID:7232219
Promoter ID:EPDNEW_H21856
Type:initiation region
Name:RBL2_1
Description:RB transcriptional corepressor like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21854  EPDNEW_H21855  EPDNEW_H21857  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,434,491 - 53,434,551EPDNEW
RGD ID:7232223
Promoter ID:EPDNEW_H21857
Type:initiation region
Name:RBL2_3
Description:RB transcriptional corepressor like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21854  EPDNEW_H21856  EPDNEW_H21855  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381653,445,781 - 53,445,841EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9894 AgrOrtholog
COSMIC RBL2 COSMIC
Ensembl Genes ENSG00000103479 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262133 ENTREZGENE
  ENST00000262133.11 UniProtKB/Swiss-Prot
  ENST00000379935 ENTREZGENE
  ENST00000544405.6 UniProtKB/TrEMBL
  ENST00000567964.6 UniProtKB/TrEMBL
Gene3D-CATH 1.10.472.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103479 GTEx
HGNC ID HGNC:9894 ENTREZGENE
Human Proteome Map RBL2 Human Proteome Map
InterPro Cyclin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5934 UniProtKB/Swiss-Prot
NCBI Gene 5934 ENTREZGENE
OMIM 180203 OMIM
PANTHER PTHR13742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13742:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34258 PharmGKB
SMART CYCLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF3452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rb_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47954 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z913 ENTREZGENE
  F5H837_HUMAN UniProtKB/TrEMBL
  J3KSF7_HUMAN UniProtKB/TrEMBL
  Q08999 ENTREZGENE
  Q15073 ENTREZGENE
  Q16084 ENTREZGENE
  Q7Z3L2 ENTREZGENE, UniProtKB/TrEMBL
  Q8NE70 ENTREZGENE
  Q92812 ENTREZGENE
  RBL2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z913 UniProtKB/Swiss-Prot
  Q15073 UniProtKB/Swiss-Prot
  Q16084 UniProtKB/Swiss-Prot
  Q8NE70 UniProtKB/Swiss-Prot
  Q92812 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 RBL2  RB transcriptional corepressor like 2    retinoblastoma-like 2  Symbol and/or name change 5135510 APPROVED
2014-03-19 RBL2  retinoblastoma-like 2    retinoblastoma-like 2 (p130)  Symbol and/or name change 5135510 APPROVED