NR2F2 (nuclear receptor subfamily 2 group F member 2) - Rat Genome Database

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Gene: NR2F2 (nuclear receptor subfamily 2 group F member 2) Homo sapiens
Analyze
Symbol: NR2F2
Name: nuclear receptor subfamily 2 group F member 2
RGD ID: 735361
HGNC Page HGNC
Description: Enables several functions, including nuclear receptor activity; protein homodimerization activity; and retinoic acid binding activity. Involved in several processes, including lymphatic endothelial cell fate commitment; negative regulation of cyclin-dependent protein serine/threonine kinase activity; and regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Implicated in 46,XX sex reversal 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADP-ribosylation factor related protein 1; apolipoprotein A-I regulatory protein 1; apolipoprotein AI regulatory protein 1; ARP-1; ARP1; chicken ovalbumin upstream promoter transcription factor 2; chicken ovalbumin upstream promoter-transcription factor I; chicken ovalbumin upstream promoter-transcription factor II variant 1; chicken ovalbumin upstream promoter-transcription factor II variant 2; chicken ovalbumin upstream promoter-transcription factor II variant 3; CHTD4; COUP transcription factor 2; COUP transcription factor II; COUP-TFII; COUPTF2; COUPTFB; COUPTFII; MGC117452; NF-E3; NR2F1; nuclear receptor subfamily 2, group F, member 2; SRXX5; SVP40; TFCOUP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1596,325,938 - 96,340,263 (+)EnsemblGRCh38hg38GRCh38
GRCh381596,326,046 - 96,340,263 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371596,869,275 - 96,883,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361594,674,950 - 94,683,048 (+)NCBINCBI36hg18NCBI36
Build 341594,674,949 - 94,683,045NCBI
Celera1573,285,358 - 73,299,693 (+)NCBI
Cytogenetic Map15q26.2NCBI
HuRef1572,999,792 - 73,013,983 (+)NCBIHuRef
CHM1_11596,711,246 - 96,725,580 (+)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-dimethylhydrazine  (ISO)
1-fluoro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-ethoxyethanol  (ISO)
2-methoxyethanol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dinophysistoxin 1  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
genistein  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
menadione  (EXP)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
prostaglandin E2  (EXP)
quercetin  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium dichromate  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
topiramate  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IDA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1312668   PMID:1820218   PMID:1899293   PMID:8530078   PMID:8910285   PMID:9115274   PMID:9343308   PMID:9826778   PMID:10318855   PMID:10704340   PMID:10744719   PMID:11544252  
PMID:12477932   PMID:12614160   PMID:12843196   PMID:14739255   PMID:15140878   PMID:15231748   PMID:15265774   PMID:15489334   PMID:15604093   PMID:15611122   PMID:15666827   PMID:16219912  
PMID:17455195   PMID:17554300   PMID:18199540   PMID:18765665   PMID:18798693   PMID:18815287   PMID:19082449   PMID:19154418   PMID:19210544   PMID:19274049   PMID:19505873   PMID:19913121  
PMID:20147377   PMID:20195529   PMID:20211142   PMID:20301533   PMID:20351309   PMID:20386594   PMID:20549515   PMID:20585627   PMID:20628086   PMID:21151097   PMID:21549307   PMID:21873635  
PMID:21988832   PMID:22178710   PMID:22219177   PMID:22242598   PMID:22493443   PMID:22569225   PMID:22606236   PMID:22693611   PMID:22734039   PMID:22829776   PMID:23136034   PMID:23201680  
PMID:23345397   PMID:23403292   PMID:23458092   PMID:23690307   PMID:23704310   PMID:23744056   PMID:23975195   PMID:24058409   PMID:24122412   PMID:24141032   PMID:24176914   PMID:24702954  
PMID:24811271   PMID:25032732   PMID:25129343   PMID:25372459   PMID:25378659   PMID:25609649   PMID:25665578   PMID:25687954   PMID:26186194   PMID:26261604   PMID:26800338   PMID:26895100  
PMID:26949251   PMID:27108958   PMID:27114453   PMID:27193872   PMID:27314877   PMID:27345768   PMID:27363585   PMID:27748848   PMID:27844448   PMID:27866920   PMID:27905023   PMID:27926873  
PMID:28192117   PMID:28514442   PMID:28922831   PMID:28963436   PMID:29026152   PMID:29117863   PMID:29207189   PMID:29222010   PMID:29478779   PMID:29509190   PMID:29544697   PMID:29663647  
PMID:29844126   PMID:29982401   PMID:30481528   PMID:30592135   PMID:30720060   PMID:30968145   PMID:31000673   PMID:31368079   PMID:31588232   PMID:31617661   PMID:31886265   PMID:31892566  
PMID:32065070   PMID:32109138   PMID:32320667   PMID:32416067   PMID:32579581   PMID:32631390   PMID:32807901   PMID:32819587   PMID:33166992   PMID:33200800   PMID:33239293   PMID:33244044  
PMID:33263384   PMID:34070923  


Genomics

Comparative Map Data
NR2F2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1596,325,938 - 96,340,263 (+)EnsemblGRCh38hg38GRCh38
GRCh381596,326,046 - 96,340,263 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371596,869,275 - 96,883,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361594,674,950 - 94,683,048 (+)NCBINCBI36hg18NCBI36
Build 341594,674,949 - 94,683,045NCBI
Celera1573,285,358 - 73,299,693 (+)NCBI
Cytogenetic Map15q26.2NCBI
HuRef1572,999,792 - 73,013,983 (+)NCBIHuRef
CHM1_11596,711,246 - 96,725,580 (+)NCBICHM1_1
Nr2f2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39770,001,694 - 70,016,494 (-)NCBIGRCm39mm39
GRCm39 Ensembl770,001,692 - 70,016,483 (-)Ensembl
GRCm38770,351,946 - 70,366,746 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl770,351,944 - 70,366,735 (-)EnsemblGRCm38mm10GRCm38
MGSCv37777,496,836 - 77,511,632 (-)NCBIGRCm37mm9NCBIm37
MGSCv36770,226,952 - 70,240,235 (-)NCBImm8
Celera767,807,423 - 67,836,911 (-)NCBICelera
Cytogenetic Map7CNCBI
cM Map738.66NCBI
Nr2f2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21124,008,282 - 124,022,521 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1124,009,181 - 124,022,031 (-)Ensembl
Rnor_6.01131,447,671 - 131,465,749 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1131,448,447 - 131,460,473 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01132,486,697 - 132,499,845 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41125,280,974 - 125,286,929 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11125,359,316 - 125,365,272 (-)NCBI
Celera1116,179,533 - 116,185,445 (-)NCBICelera
Cytogenetic Map1q31NCBI
Nr2f2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541624,141,888 - 24,168,585 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541624,148,052 - 24,154,406 (+)NCBIChiLan1.0ChiLan1.0
NR2F2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11594,196,494 - 94,210,599 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01575,008,879 - 75,021,981 (+)NCBIMhudiblu_PPA_v0panPan3
NR2F2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1344,135,143 - 44,148,836 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl344,136,463 - 44,148,524 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha346,838,728 - 46,852,294 (-)NCBI
ROS_Cfam_1.0344,548,234 - 44,561,807 (-)NCBI
UMICH_Zoey_3.1344,070,866 - 44,084,429 (-)NCBI
UNSW_CanFamBas_1.0344,300,713 - 44,314,268 (-)NCBI
UU_Cfam_GSD_1.0344,625,819 - 44,639,411 (-)NCBI
Nr2f2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640139,433,402 - 139,446,616 (+)NCBI
SpeTri2.0NW_0049364836,886,447 - 6,900,986 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NR2F2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl783,076,144 - 83,090,536 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1783,076,119 - 83,090,250 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2788,960,806 - 88,972,751 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NR2F2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12914,889,526 - 14,901,848 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2914,891,737 - 14,903,813 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605931,706,856 - 31,720,520 (-)NCBIVero_WHO_p1.0
Nr2f2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247687,713,771 - 7,728,102 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH45711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371596,883,265 - 96,883,405UniSTSGRCh37
Build 361594,684,269 - 94,684,409RGDNCBI36
Celera1573,299,466 - 73,299,606RGD
Cytogenetic Map15q26UniSTS
HuRef1573,013,756 - 73,013,896UniSTS
GeneMap99-GB4 RH Map15341.89UniSTS
NR2F2_2074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371596,881,369 - 96,882,242UniSTSGRCh37
Build 361594,682,373 - 94,683,246RGDNCBI36
Celera1573,297,570 - 73,298,443RGD
HuRef1573,011,860 - 73,012,733UniSTS
D7S2770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371596,880,852 - 96,881,002UniSTSGRCh37
Build 361594,681,856 - 94,682,006RGDNCBI36
Celera1573,297,053 - 73,297,203RGD
Cytogenetic Map15q26UniSTS
HuRef1573,011,339 - 73,011,489UniSTS
Whitehead-YAC Contig Map7 UniSTS
WI-22254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371596,883,195 - 96,883,444UniSTSGRCh37
Build 361594,684,199 - 94,684,448RGDNCBI36
Celera1573,299,396 - 73,299,645RGD
Cytogenetic Map15q26UniSTS
HuRef1573,013,686 - 73,013,935UniSTS
GeneMap99-GB4 RH Map15341.89UniSTS
Whitehead-RH Map15363.5UniSTS
STS-T94368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371596,870,172 - 96,870,311UniSTSGRCh37
Build 361594,671,176 - 94,671,315RGDNCBI36
Celera1573,286,373 - 73,286,512RGD
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q26UniSTS
HuRef1573,000,807 - 73,000,946UniSTS
GeneMap99-GB4 RH Map15341.89UniSTS
NCBI RH Map15725.8UniSTS
D1Bda25  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371596,880,778 - 96,880,992UniSTSGRCh37
Build 361594,681,782 - 94,681,996RGDNCBI36
Celera1573,296,979 - 73,297,193RGD
HuRef1573,011,265 - 73,011,479UniSTS
NR2F1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,923,711 - 92,924,083UniSTSGRCh37
Celera588,783,109 - 88,783,481UniSTS
HuRef588,096,660 - 88,097,032UniSTS
Nr2f2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371596,881,079 - 96,881,987UniSTSGRCh37
Celera1573,297,280 - 73,298,188UniSTS
HuRef1573,011,566 - 73,012,478UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR302Ahsa-miR-302a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21151097

Predicted Target Of
Summary Value
Count of predictions:3208
Count of miRNA genes:845
Interacting mature miRNAs:1028
Transcripts:ENST00000394166, ENST00000394171, ENST00000421109, ENST00000453270, ENST00000559679
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2394 1920 1491 434 556 294 3602 1612 1283 396 1399 1552 153 1204 2395 3
Low 45 345 230 190 359 171 678 581 2429 23 57 52 21 1 393 3 2
Below cutoff 712 2 841 68 1 14 4 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB307711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM208183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ692848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ692849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ692850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M62760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000394166   ⟹   ENSP00000377721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1596,330,700 - 96,340,258 (+)Ensembl
RefSeq Acc Id: ENST00000394171   ⟹   ENSP00000377726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1596,332,565 - 96,340,263 (+)Ensembl
RefSeq Acc Id: ENST00000421109   ⟹   ENSP00000401674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1596,325,938 - 96,338,618 (+)Ensembl
RefSeq Acc Id: ENST00000453270   ⟹   ENSP00000389853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1596,333,163 - 96,337,836 (+)Ensembl
RefSeq Acc Id: ENST00000559679   ⟹   ENSP00000457112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1596,332,537 - 96,334,372 (+)Ensembl
RefSeq Acc Id: NM_001145155   ⟹   NP_001138627
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,326,046 - 96,340,258 (+)NCBI
GRCh371596,869,157 - 96,883,492 (+)ENTREZGENE
HuRef1572,999,792 - 73,013,983 (+)ENTREZGENE
CHM1_11596,711,246 - 96,725,580 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145156   ⟹   NP_001138628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,332,565 - 96,340,263 (+)NCBI
GRCh371596,869,157 - 96,883,492 (+)ENTREZGENE
HuRef1572,999,792 - 73,013,983 (+)ENTREZGENE
CHM1_11596,717,883 - 96,725,580 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145157   ⟹   NP_001138629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,333,765 - 96,340,258 (+)NCBI
GRCh371596,869,157 - 96,883,492 (+)ENTREZGENE
HuRef1572,999,792 - 73,013,983 (+)ENTREZGENE
CHM1_11596,718,658 - 96,725,580 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021005   ⟹   NP_066285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,330,700 - 96,340,258 (+)NCBI
GRCh371596,869,157 - 96,883,492 (+)ENTREZGENE
Build 361594,674,950 - 94,683,048 (+)NCBI Archive
HuRef1572,999,792 - 73,013,983 (+)ENTREZGENE
CHM1_11596,716,200 - 96,725,580 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001138627   ⟸   NM_001145155
- Peptide Label: isoform b
- UniProtKB: P24468 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_066285   ⟸   NM_021005
- Peptide Label: isoform a
- UniProtKB: P24468 (UniProtKB/Swiss-Prot),   F1D8R0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138628   ⟸   NM_001145156
- Peptide Label: isoform c
- UniProtKB: P24468 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138629   ⟸   NM_001145157
- Peptide Label: isoform c
- UniProtKB: P24468 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000457112   ⟸   ENST00000559679
RefSeq Acc Id: ENSP00000389853   ⟸   ENST00000453270
RefSeq Acc Id: ENSP00000377721   ⟸   ENST00000394166
RefSeq Acc Id: ENSP00000377726   ⟸   ENST00000394171
RefSeq Acc Id: ENSP00000401674   ⟸   ENST00000421109
Protein Domains
NR LBD   Nuclear receptor

Promoters
RGD ID:6792484
Promoter ID:HG_KWN:22418
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001145155
Position:
Human AssemblyChrPosition (strand)Source
Build 361594,669,736 - 94,670,236 (+)MPROMDB
RGD ID:6792485
Promoter ID:HG_KWN:22420
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394166,   NM_001145156,   UC002BTQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361594,673,976 - 94,676,697 (+)MPROMDB
RGD ID:6792483
Promoter ID:HG_KWN:22421
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145157
Position:
Human AssemblyChrPosition (strand)Source
Build 361594,677,304 - 94,677,804 (+)MPROMDB
RGD ID:7230629
Promoter ID:EPDNEW_H21060
Type:initiation region
Name:NR2F2_4
Description:nuclear receptor subfamily 2 group F member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21061  EPDNEW_H21062  EPDNEW_H21063  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,325,918 - 96,325,978EPDNEW
RGD ID:7230631
Promoter ID:EPDNEW_H21061
Type:initiation region
Name:NR2F2_2
Description:nuclear receptor subfamily 2 group F member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21060  EPDNEW_H21062  EPDNEW_H21063  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,326,047 - 96,326,107EPDNEW
RGD ID:7230633
Promoter ID:EPDNEW_H21062
Type:initiation region
Name:NR2F2_1
Description:nuclear receptor subfamily 2 group F member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21060  EPDNEW_H21061  EPDNEW_H21063  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,330,700 - 96,330,760EPDNEW
RGD ID:7230635
Promoter ID:EPDNEW_H21063
Type:initiation region
Name:NR2F2_3
Description:nuclear receptor subfamily 2 group F member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21060  EPDNEW_H21061  EPDNEW_H21062  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381596,333,118 - 96,333,178EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021005.4(NR2F2):c.537C>T (p.Ser179=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000526939] Chr15:96334170 [GRCh38]
Chr15:96877399 [GRCh37]
Chr15:15q26.2
benign
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 copy number gain See cases [RCV000050851] Chr15:94033008..101843270 [GRCh38]
Chr15:94576237..102383473 [GRCh37]
Chr15:92377241..100200996 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 copy number loss See cases [RCV000053228] Chr15:96069425..101849578 [GRCh38]
Chr15:96612654..102389781 [GRCh37]
Chr15:94413658..100207304 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 copy number loss See cases [RCV000053244] Chr15:96329791..101849578 [GRCh38]
Chr15:96873020..102389781 [GRCh37]
Chr15:94674024..100207304 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1 copy number loss Congenital heart defects, multiple types, 4 [RCV000660867] Chr15:96878571..96880063 [GRCh37]
Chr15:15q26.2
likely pathogenic
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs) duplication Congenital heart defects, multiple types, 4 [RCV000660428] Chr15:96332186..96332187 [GRCh38]
Chr15:96875415..96875416 [GRCh37]
Chr15:15q26.2
likely pathogenic
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000116199]|not provided [RCV000494657] Chr15:96337399 [GRCh38]
Chr15:96880628 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000116200] Chr15:96334247 [GRCh38]
Chr15:96877476 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) microsatellite Congenital heart defects, multiple types, 4 [RCV000116201] Chr15:96332313..96332314 [GRCh38]
Chr15:96875542..96875543 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.970+1G>A single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000116202] Chr15:96334604 [GRCh38]
Chr15:96877833 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000735231] Chr15:96334379 [GRCh38]
Chr15:96877608 [GRCh37]
Chr15:15q26.2
uncertain significance
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 copy number loss See cases [RCV000133733] Chr15:93198717..101843270 [GRCh38]
Chr15:93741946..102383473 [GRCh37]
Chr15:91542950..100200996 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 copy number loss See cases [RCV000136864] Chr15:95770627..101810992 [GRCh38]
Chr15:96313856..102351195 [GRCh37]
Chr15:94114860..100168718 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.2(chr15:96330112-96332571)x3 copy number gain See cases [RCV000138750] Chr15:96330112..96332571 [GRCh38]
Chr15:96873341..96875800 [GRCh37]
Chr15:94674345..94676804 [NCBI36]
Chr15:15q26.2
likely benign
GRCh38/hg38 15q26.2(chr15:96329890-96332571)x1 copy number loss See cases [RCV000138485] Chr15:96329890..96332571 [GRCh38]
Chr15:96873119..96875800 [GRCh37]
Chr15:94674123..94676804 [NCBI36]
Chr15:15q26.2
likely benign
GRCh38/hg38 15q26.2(chr15:96326287-96330171)x3 copy number gain See cases [RCV000139282] Chr15:96326287..96330171 [GRCh38]
Chr15:96869516..96873400 [GRCh37]
Chr15:94670520..94674404 [NCBI36]
Chr15:15q26.2
likely benign
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 copy number gain See cases [RCV000141431] Chr15:93041524..101941326 [GRCh38]
Chr15:93584754..102481529 [GRCh37]
Chr15:91385758..100299052 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.2(chr15:96330212-96332349)x3 copy number gain See cases [RCV000141449] Chr15:96330212..96332349 [GRCh38]
Chr15:96873441..96875578 [GRCh37]
Chr15:94674445..94676582 [NCBI36]
Chr15:15q26.2
benign
GRCh38/hg38 15q26.2(chr15:96329890-96331506)x3 copy number gain See cases [RCV000143044] Chr15:96329890..96331506 [GRCh38]
Chr15:96873119..96874735 [GRCh37]
Chr15:94674123..94675739 [NCBI36]
Chr15:15q26.2
likely benign
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 copy number loss See cases [RCV000143088] Chr15:96024127..101920998 [GRCh38]
Chr15:96567356..102461201 [GRCh37]
Chr15:94368360..100278724 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1 copy number loss See cases [RCV000143687] Chr15:93805032..101326876 [GRCh38]
Chr15:94348261..101867081 [GRCh37]
Chr15:92149265..99684604 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:96869560-99486217)x3 copy number gain Ductal breast carcinoma [RCV000207087] Chr15:96869560..99486217 [GRCh37]
Chr15:15q26.2-26.3
uncertain significance
NM_021005.4(NR2F2):c.129C>G (p.Pro43=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000230815] Chr15:96332234 [GRCh38]
Chr15:96875463 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000234734] Chr15:96334342 [GRCh38]
Chr15:96877571 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.1097G>C (p.Arg366Pro) single nucleotide variant Inborn genetic diseases [RCV000623836] Chr15:96337474 [GRCh38]
Chr15:96880703 [GRCh37]
Chr15:15q26.2
pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 copy number loss See cases [RCV000240535] Chr15:92197136..102354857 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_021005.4(NR2F2):c.856dup (p.Val286fs) duplication Congenital heart defects, multiple types, 4 [RCV001171515]|not provided [RCV000384214] Chr15:96334487..96334488 [GRCh38]
Chr15:96877716..96877717 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) single nucleotide variant Neurodevelopmental disorder [RCV001375025] Chr15:96332374 [GRCh38]
Chr15:96875603 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_001145155.2(NR2F2):c.43+1G>A single nucleotide variant not provided [RCV000490137] Chr15:96326353 [GRCh38]
Chr15:96869582 [GRCh37]
Chr15:15q26.2
uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95202449-98779894) copy number gain See cases [RCV000446405] Chr15:95202449..98779894 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1 copy number loss See cases [RCV000446457] Chr15:95238218..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1 copy number loss See cases [RCV000445764] Chr15:94782891..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1 copy number loss See cases [RCV000512141] Chr15:95136822..102045577 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_021005.4(NR2F2):c.834G>A (p.Ser278=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000461174] Chr15:96334467 [GRCh38]
Chr15:96877696 [GRCh37]
Chr15:15q26.2
benign
GRCh37/hg19 15q26.2(chr15:96873984-96877760)x3 copy number gain See cases [RCV000515598] Chr15:96873984..96877760 [GRCh37]
Chr15:15q26.2
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 copy number gain See cases [RCV000511719] Chr15:93148806..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3
likely pathogenic
NM_021005.4(NR2F2):c.64C>T (p.Gln22Ter) single nucleotide variant Inborn genetic diseases [RCV000623401] Chr15:96332169 [GRCh38]
Chr15:96875398 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.940T>C (p.Cys314Arg) single nucleotide variant Inborn genetic diseases [RCV000624302] Chr15:96334573 [GRCh38]
Chr15:96877802 [GRCh37]
Chr15:15q26.2
likely pathogenic
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000515135] Chr15:96332352 [GRCh38]
Chr15:96875581 [GRCh37]
Chr15:15q26.2
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.2(chr15:96873583-96878437)x0 copy number loss not provided [RCV000751405] Chr15:96873583..96878437 [GRCh37]
Chr15:15q26.2
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) deletion not provided [RCV001708552] Chr15:96337776 [GRCh38]
Chr15:96881005 [GRCh37]
Chr15:15q26.2
benign
NM_021005.4(NR2F2):c.382C>T (p.Arg128Cys) single nucleotide variant not provided [RCV000995436] Chr15:96332487 [GRCh38]
Chr15:96875716 [GRCh37]
Chr15:15q26.2
likely pathogenic
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001052373] Chr15:96332322 [GRCh38]
Chr15:96875551 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001059942] Chr15:96334581 [GRCh38]
Chr15:96877810 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.816C>G (p.Ala272=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000864953] Chr15:96334449 [GRCh38]
Chr15:96877678 [GRCh37]
Chr15:15q26.2
likely benign
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423) copy number loss not provided [RCV000767761] Chr15:96873212..102389423 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000794086] Chr15:96332309 [GRCh38]
Chr15:96875538 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.103_109del (p.Gly35fs) deletion 46,xx sex reversal 5 [RCV001171518] Chr15:96332203..96332209 [GRCh38]
Chr15:96875432..96875438 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.1029_1035del (p.Cys343fs) deletion not provided [RCV001008293] Chr15:96337404..96337410 [GRCh38]
Chr15:96880633..96880639 [GRCh37]
Chr15:15q26.2
pathogenic
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001241505] Chr15:96334304 [GRCh38]
Chr15:96877533 [GRCh37]
Chr15:15q26.2
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
null single nucleotide variant not provided [RCV001612220] Chr15:96334870 [GRCh38]
Chr15:96878099 [GRCh37]
Chr15:15q26.2
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001713549] Chr15:96326466 [GRCh38]
Chr15:96869695 [GRCh37]
Chr15:15q26.2
benign
NM_021005.4(NR2F2):c.958C>T (p.Leu320=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001475608]|not provided [RCV000977455] Chr15:96334591 [GRCh38]
Chr15:96877820 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.882C>T (p.Ile294=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV000920167] Chr15:96334515 [GRCh38]
Chr15:96877744 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001471525]|not provided [RCV000908816] Chr15:96337385 [GRCh38]
Chr15:96880614 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001223158] Chr15:96337377 [GRCh38]
Chr15:96880606 [GRCh37]
Chr15:15q26.2
uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 copy number loss Chromosome 15q26-qter deletion syndrome [RCV000993689] Chr15:96878099..102397836 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) microsatellite not provided [RCV001595549] Chr15:96337281..96337282 [GRCh38]
Chr15:96880510..96880511 [GRCh37]
Chr15:15q26.2
benign
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001027967] Chr15:96337464 [GRCh38]
Chr15:96880693 [GRCh37]
Chr15:15q26.2
uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1 copy number loss not provided [RCV001537887] Chr15:92335751..102399741 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs) deletion 46,xx sex reversal 5 [RCV001171517]|Congenital heart defects, multiple types, 4 [RCV001171514] Chr15:96332197..96332203 [GRCh38]
Chr15:96875426..96875432 [GRCh37]
Chr15:15q26.2
pathogenic
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) deletion not provided [RCV001710425] Chr15:96337822..96337823 [GRCh38]
Chr15:96881051..96881052 [GRCh37]
Chr15:15q26.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652233] Chr15:96332041 [GRCh38]
Chr15:96875270 [GRCh37]
Chr15:15q26.2
benign
null microsatellite not provided [RCV001671771] Chr15:96337282..96337284 [GRCh38]
Chr15:96880511..96880513 [GRCh37]
Chr15:15q26.2
benign
NM_021005.4(NR2F2):c.276C>T (p.Gly92=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001059983] Chr15:96332381 [GRCh38]
Chr15:96875610 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001231668] Chr15:96332109 [GRCh38]
Chr15:96875338 [GRCh37]
Chr15:15q26.2
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NM_021005.4(NR2F2):c.1081G>C (p.Gly361Arg) single nucleotide variant not provided [RCV001310298] Chr15:96337458 [GRCh38]
Chr15:96880687 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.918C>T (p.His306=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001415227] Chr15:96334551 [GRCh38]
Chr15:96877780 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001313025] Chr15:96332414 [GRCh38]
Chr15:96875643 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001315961] Chr15:96332124 [GRCh38]
Chr15:96875353 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001341286] Chr15:96334315 [GRCh38]
Chr15:96877544 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.172G>C (p.Gly58Arg) single nucleotide variant NR2F2-related congenital heart defects [RCV001270868] Chr15:96332277 [GRCh38]
Chr15:96875506 [GRCh37]
Chr15:15q26.2
uncertain significance
NM_021005.4(NR2F2):c.789C>T (p.Pro263=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001481846] Chr15:96334422 [GRCh38]
Chr15:96877651 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.357G>C (p.Arg119=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001503092] Chr15:96332462 [GRCh38]
Chr15:96875691 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.843C>T (p.Ser281=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001407519] Chr15:96334476 [GRCh38]
Chr15:96877705 [GRCh37]
Chr15:15q26.2
likely benign
NM_021005.4(NR2F2):c.414G>A (p.Lys138=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001419342] Chr15:96332519 [GRCh38]
Chr15:96875748 [GRCh37]
Chr15:15q26.2
likely benign
null single nucleotide variant not provided [RCV001670020] Chr15:96331144 [GRCh38]
Chr15:96874373 [GRCh37]
Chr15:15q26.2
benign
NM_021005.4(NR2F2):c.36G>A (p.Gln12=) single nucleotide variant Congenital heart defects, multiple types, 4 [RCV001460354] Chr15:96332141 [GRCh38]
Chr15:96875370 [GRCh37]
Chr15:15q26.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7976 AgrOrtholog
COSMIC NR2F2 COSMIC
Ensembl Genes ENSG00000185551 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000377721 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377726 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401674 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000457112 UniProtKB/TrEMBL
Ensembl Transcript ENST00000394166 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421109 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000453270 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559679 UniProtKB/TrEMBL
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185551 GTEx
HGNC ID HGNC:7976 ENTREZGENE
Human Proteome Map NR2F2 Human Proteome Map
InterPro NHR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7026 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7026 ENTREZGENE
OMIM 107773 OMIM
  615779 OMIM
  618901 OMIM
Pfam Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB NR2F2 RGD, PharmGKB
PRINTS STRDHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STROIDFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NR_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COT2_HUMAN UniProtKB/Swiss-Prot
  F1D8R0 ENTREZGENE, UniProtKB/TrEMBL
  H3BTC2_HUMAN UniProtKB/TrEMBL
  P24468 ENTREZGENE
UniProt Secondary B4DQJ2 UniProtKB/Swiss-Prot
  B6ZGU1 UniProtKB/Swiss-Prot
  Q03754 UniProtKB/Swiss-Prot
  Q3KQR7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NR2F2  nuclear receptor subfamily 2 group F member 2    nuclear receptor subfamily 2, group F, member 2  Symbol and/or name change 5135510 APPROVED