Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NR2C1 | Human | endometriosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22138541 | |
|
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NR2C1 | Human | endometriosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22138541 | |
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:2597158 | PMID:3421977 | PMID:9704569 | PMID:9737983 | PMID:9795341 | PMID:11463856 | PMID:12093744 | PMID:12093804 | PMID:12361719 | PMID:12477932 | PMID:12615366 | PMID:12943985 |
PMID:12949936 | PMID:14521922 | PMID:16344560 | PMID:17010934 | PMID:17974920 | PMID:19204783 | PMID:19274049 | PMID:20379614 | PMID:21360626 | PMID:21670149 | PMID:21873635 | PMID:21900206 |
PMID:22544055 | PMID:26469385 | PMID:28473536 | PMID:28794006 | PMID:29656893 | PMID:30415952 | PMID:30463901 | PMID:30804394 | PMID:32296183 | PMID:33916271 | PMID:33961781 | PMID:34079125 |
PMID:34189442 | PMID:34672954 | PMID:34795231 | PMID:35140242 | PMID:35914814 | PMID:36089195 | PMID:36373674 | PMID:36591938 | PMID:37689310 | PMID:38297188 |
NR2C1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr2c1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr2c1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr2c1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NR2C1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NR2C1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr2c1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NR2C1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NR2C1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr2c1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in NR2C1
29 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 | copy number gain | See cases [RCV000142447] | Chr12:91044318..109133210 [GRCh38] Chr12:91438095..109571015 [GRCh37] Chr12:89962226..108055398 [NCBI36] Chr12:12q21.33-24.11 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_003297.4(NR2C1):c.1382G>C (p.Ser461Thr) | single nucleotide variant | not specified [RCV004311295] | Chr12:95031360 [GRCh38] Chr12:95425136 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.952G>C (p.Gly318Arg) | single nucleotide variant | not specified [RCV004326457] | Chr12:95051775 [GRCh38] Chr12:95445551 [GRCh37] Chr12:12q22 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q21.33-22(chr12:91621655-96014946)x1 | copy number loss | not provided [RCV000737994] | Chr12:91621655..96014946 [GRCh37] Chr12:12q21.33-22 |
uncertain significance |
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 | copy number gain | not provided [RCV000750524] | Chr12:94881995..103635998 [GRCh37] Chr12:12q22-23.2 |
pathogenic |
GRCh37/hg19 12q22(chr12:95467354-95548473)x1 | copy number loss | not provided [RCV000750527] | Chr12:95467354..95548473 [GRCh37] Chr12:12q22 |
benign |
NM_003297.4(NR2C1):c.1244A>T (p.Gln415Leu) | single nucleotide variant | not specified [RCV004307300] | Chr12:95040485 [GRCh38] Chr12:95434261 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.544+1G>C | single nucleotide variant | Flexion contracture [RCV001007799] | Chr12:95058309 [GRCh38] Chr12:95452085 [GRCh37] Chr12:12q22 |
likely pathogenic |
NM_003297.4(NR2C1):c.973G>A (p.Asp325Asn) | single nucleotide variant | not specified [RCV004087994] | Chr12:95049226 [GRCh38] Chr12:95443002 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.164G>A (p.Ser55Asn) | single nucleotide variant | not specified [RCV004171121] | Chr12:95062629 [GRCh38] Chr12:95456405 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.515G>C (p.Arg172Thr) | single nucleotide variant | not specified [RCV004135014] | Chr12:95058339 [GRCh38] Chr12:95452115 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.1186T>A (p.Ser396Thr) | single nucleotide variant | not specified [RCV004172165] | Chr12:95040543 [GRCh38] Chr12:95434319 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.155C>G (p.Ser52Cys) | single nucleotide variant | not specified [RCV004172703] | Chr12:95062638 [GRCh38] Chr12:95456414 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.985A>G (p.Lys329Glu) | single nucleotide variant | not specified [RCV004106924] | Chr12:95049214 [GRCh38] Chr12:95442990 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.658A>G (p.Thr220Ala) | single nucleotide variant | not specified [RCV004092183] | Chr12:95057765 [GRCh38] Chr12:95451541 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.676G>C (p.Asp226His) | single nucleotide variant | not specified [RCV004109634] | Chr12:95057747 [GRCh38] Chr12:95451523 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.719T>C (p.Met240Thr) | single nucleotide variant | not specified [RCV004109635] | Chr12:95057617 [GRCh38] Chr12:95451393 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.1052A>G (p.His351Arg) | single nucleotide variant | not specified [RCV004242976] | Chr12:95049147 [GRCh38] Chr12:95442923 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.704T>C (p.Leu235Pro) | single nucleotide variant | not specified [RCV004210510] | Chr12:95057632 [GRCh38] Chr12:95451408 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.697A>G (p.Thr233Ala) | single nucleotide variant | not specified [RCV004196535] | Chr12:95057639 [GRCh38] Chr12:95451415 [GRCh37] Chr12:12q22 |
likely benign |
NM_003297.4(NR2C1):c.641G>A (p.Arg214His) | single nucleotide variant | not specified [RCV004133753] | Chr12:95057782 [GRCh38] Chr12:95451558 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.119A>T (p.Gln40Leu) | single nucleotide variant | not specified [RCV004255939] | Chr12:95062674 [GRCh38] Chr12:95456450 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.188A>G (p.Asp63Gly) | single nucleotide variant | not specified [RCV004339686] | Chr12:95062605 [GRCh38] Chr12:95456381 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.113A>G (p.Asn38Ser) | single nucleotide variant | not specified [RCV004075737] | Chr12:95062680 [GRCh38] Chr12:95456456 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.109C>T (p.His37Tyr) | single nucleotide variant | not specified [RCV004249924] | Chr12:95062684 [GRCh38] Chr12:95456460 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.1032G>A (p.Ala344=) | single nucleotide variant | not provided [RCV003391947] | Chr12:95049167 [GRCh38] Chr12:95442943 [GRCh37] Chr12:12q22 |
likely benign |
NM_003297.4(NR2C1):c.798G>T (p.Gln266His) | single nucleotide variant | not specified [RCV004491258] | Chr12:95051929 [GRCh38] Chr12:95445705 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.709G>C (p.Asp237His) | single nucleotide variant | not specified [RCV004491257] | Chr12:95057627 [GRCh38] Chr12:95451403 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.259C>T (p.Pro87Ser) | single nucleotide variant | not specified [RCV004491256] | Chr12:95062534 [GRCh38] Chr12:95456310 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.94G>C (p.Val32Leu) | single nucleotide variant | not specified [RCV004491260] | Chr12:95062699 [GRCh38] Chr12:95456475 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.899G>A (p.Ser300Asn) | single nucleotide variant | not specified [RCV004491259] | Chr12:95051828 [GRCh38] Chr12:95445604 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.1309G>A (p.Gly437Ser) | single nucleotide variant | not specified [RCV004491254] | Chr12:95031433 [GRCh38] Chr12:95425209 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.12A>G (p.Ile4Met) | single nucleotide variant | not specified [RCV004491253] | Chr12:95067373 [GRCh38] Chr12:95461149 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.604G>A (p.Ala202Thr) | single nucleotide variant | not specified [RCV004650375] | Chr12:95057819 [GRCh38] Chr12:95451595 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.190T>G (p.Ser64Ala) | single nucleotide variant | not specified [RCV004650376] | Chr12:95062603 [GRCh38] Chr12:95456379 [GRCh37] Chr12:12q22 |
uncertain significance |
NM_003297.4(NR2C1):c.1381A>G (p.Ser461Gly) | single nucleotide variant | not specified [RCV004650377] | Chr12:95031361 [GRCh38] Chr12:95425137 [GRCh37] Chr12:12q22 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
SHGC-35295 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH102177 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
D12S1885 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
WI-15851 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
REN85499 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
STS-H68838 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
NR2C1_2654 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NM_001032287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001127362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005269133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006719584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006719585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011538716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011538717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001748861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001748862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001748863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001748864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_245956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_429114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_944699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_944700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB307707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC011598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC026074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC040141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE676699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB266298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JQ308177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JQ308178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M21985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M29959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M29960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000330677 ⟹ ENSP00000328843 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000333003 ⟹ ENSP00000333275 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000393101 ⟹ ENSP00000376813 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000545833 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000546367 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000546416 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000547469 ⟹ ENSP00000446906 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000547594 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548252 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548966 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000549482 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000549617 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000551386 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000551647 ⟹ ENSP00000450225 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552417 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552484 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552791 ⟹ ENSP00000446817 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552861 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000622476 ⟹ ENSP00000478728 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001032287 ⟹ NP_001027458 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001127362 ⟹ NP_001120834 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003297 ⟹ NP_003288 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005269133 ⟹ XP_005269190 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006719584 ⟹ XP_006719647 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006719585 ⟹ XP_006719648 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011538716 ⟹ XP_011537018 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011538717 ⟹ XP_011537019 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047429494 ⟹ XP_047285450 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047429495 ⟹ XP_047285451 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047429496 ⟹ XP_047285452 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047429497 ⟹ XP_047285453 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047429499 ⟹ XP_047285455 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373118 ⟹ XP_054229093 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373119 ⟹ XP_054229094 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373120 ⟹ XP_054229095 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373121 ⟹ XP_054229096 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373122 ⟹ XP_054229097 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373123 ⟹ XP_054229098 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373124 ⟹ XP_054229099 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373125 ⟹ XP_054229100 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373126 ⟹ XP_054229101 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373127 ⟹ XP_054229102 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001027458 | (Get FASTA) | NCBI Sequence Viewer |
NP_001120834 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003288 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005269190 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006719647 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006719648 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011537018 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011537019 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285450 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285451 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285452 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285453 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285455 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229093 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229094 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229095 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229096 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229097 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229098 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229099 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229100 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229101 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229102 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA36650 | (Get FASTA) | NCBI Sequence Viewer |
AAA36761 | (Get FASTA) | NCBI Sequence Viewer | |
AAA36762 | (Get FASTA) | NCBI Sequence Viewer | |
AAH40141 | (Get FASTA) | NCBI Sequence Viewer | |
AFF59487 | (Get FASTA) | NCBI Sequence Viewer | |
AFF59488 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84008 | (Get FASTA) | NCBI Sequence Viewer | |
BAH02298 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97517 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97518 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97519 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97520 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000328843 | ||
ENSP00000328843.7 | |||
ENSP00000333275 | |||
ENSP00000333275.4 | |||
ENSP00000376813 | |||
ENSP00000376813.3 | |||
ENSP00000446817.1 | |||
ENSP00000446906.1 | |||
ENSP00000450225.1 | |||
ENSP00000478728 | |||
ENSP00000478728.1 | |||
GenBank Protein | P13056 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003288 ⟸ NM_003297 |
- Peptide Label: | isoform a |
- UniProtKB: | Q15625 (UniProtKB/Swiss-Prot), A8K5K4 (UniProtKB/Swiss-Prot), Q15626 (UniProtKB/Swiss-Prot), P13056 (UniProtKB/Swiss-Prot), H9NIM2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001027458 ⟸ NM_001032287 |
- Peptide Label: | isoform b |
- UniProtKB: | H9NIM3 (UniProtKB/TrEMBL), A0A087WUK4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001120834 ⟸ NM_001127362 |
- Peptide Label: | isoform c |
- UniProtKB: | A0A087WUK4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005269190 ⟸ XM_005269133 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006719647 ⟸ XM_006719584 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006719648 ⟸ XM_006719585 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | XP_011537019 ⟸ XM_011538717 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_011537018 ⟸ XM_011538716 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A087WUK4 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000478728 ⟸ ENST00000622476 |
Ensembl Acc Id: | ENSP00000333275 ⟸ ENST00000333003 |
Ensembl Acc Id: | ENSP00000446906 ⟸ ENST00000547469 |
Ensembl Acc Id: | ENSP00000376813 ⟸ ENST00000393101 |
Ensembl Acc Id: | ENSP00000450225 ⟸ ENST00000551647 |
Ensembl Acc Id: | ENSP00000446817 ⟸ ENST00000552791 |
Ensembl Acc Id: | ENSP00000328843 ⟸ ENST00000330677 |
RefSeq Acc Id: | XP_047285451 ⟸ XM_047429495 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_047285450 ⟸ XM_047429494 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047285452 ⟸ XM_047429496 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047285453 ⟸ XM_047429497 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_047285455 ⟸ XM_047429499 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_054229098 ⟸ XM_054373123 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054229097 ⟸ XM_054373122 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054229094 ⟸ XM_054373119 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054229096 ⟸ XM_054373121 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054229093 ⟸ XM_054373118 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054229095 ⟸ XM_054373120 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054229099 ⟸ XM_054373124 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054229100 ⟸ XM_054373125 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054229101 ⟸ XM_054373126 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_054229102 ⟸ XM_054373127 |
- Peptide Label: | isoform X10 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P13056-F1-model_v2 | AlphaFold | P13056 | 1-603 | view protein structure |
RGD ID: | 6790317 | ||||||||
Promoter ID: | HG_KWN:16349 | ||||||||
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: | ENST00000333003, NM_001032287, NM_001127362, NM_003297 | ||||||||
Position: |
|
RGD ID: | 7225047 | ||||||||
Promoter ID: | EPDNEW_H18269 | ||||||||
Type: | initiation region | ||||||||
Name: | NR2C1_1 | ||||||||
Description: | nuclear receptor subfamily 2 group C member 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18270 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7225049 | ||||||||
Promoter ID: | EPDNEW_H18270 | ||||||||
Type: | initiation region | ||||||||
Name: | NR2C1_2 | ||||||||
Description: | nuclear receptor subfamily 2 group C member 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18269 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:7971 | AgrOrtholog |
COSMIC | NR2C1 | COSMIC |
Ensembl Genes | ENSG00000120798 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000330677 | ENTREZGENE |
ENST00000330677.7 | UniProtKB/Swiss-Prot | |
ENST00000333003 | ENTREZGENE | |
ENST00000333003.10 | UniProtKB/Swiss-Prot | |
ENST00000393101 | ENTREZGENE | |
ENST00000393101.7 | UniProtKB/Swiss-Prot | |
ENST00000547469.1 | UniProtKB/TrEMBL | |
ENST00000551647.5 | UniProtKB/TrEMBL | |
ENST00000552791.1 | UniProtKB/TrEMBL | |
ENST00000622476 | ENTREZGENE | |
ENST00000622476.4 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.565.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.50.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000120798 | GTEx |
HGNC ID | HGNC:7971 | ENTREZGENE |
Human Proteome Map | NR2C1 | Human Proteome Map |
InterPro | NHR-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NR2C1/2-like_DBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NR2C1/2-like_LBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Nucl_hrmn_rcpt_lig-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Nuclear_hormone_rcpt_NR2 | 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:7181 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 7181 | ENTREZGENE |
OMIM | 601529 | OMIM |
PANTHER | NUCLEAR HORMONE RECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NUCLEAR RECEPTOR SUBFAMILY 2 GROUP C MEMBER 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Hormone_recep | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
zf-C4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA31754 | 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 | Glucocorticoid receptor-like (DNA-binding domain) | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48508 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A087WUK4 | ENTREZGENE, UniProtKB/TrEMBL |
A8K5K4 | ENTREZGENE | |
B6ZGT7_HUMAN | UniProtKB/TrEMBL | |
F8W1Q1_HUMAN | UniProtKB/TrEMBL | |
H0YHC6_HUMAN | UniProtKB/TrEMBL | |
H0YIV1_HUMAN | UniProtKB/TrEMBL | |
H9NIM2 | ENTREZGENE, UniProtKB/TrEMBL | |
H9NIM3 | ENTREZGENE, UniProtKB/TrEMBL | |
NR2C1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q15625 | ENTREZGENE | |
Q15626 | ENTREZGENE | |
UniProt Secondary | A8K5K4 | UniProtKB/Swiss-Prot |
Q15625 | UniProtKB/Swiss-Prot | |
Q15626 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | NR2C1 | nuclear receptor subfamily 2 group C member 1 | NR2C1 | nuclear receptor subfamily 2, group C, member 1 | Symbol and/or name change | 5135510 | APPROVED |