NRBP2 (nuclear receptor binding protein 2) - Rat Genome Database

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Gene: NRBP2 (nuclear receptor binding protein 2) Homo sapiens
Analyze
Symbol: NRBP2
Name: nuclear receptor binding protein 2
RGD ID: 1351329
HGNC Page HGNC
Description: Predicted to have protein serine/threonine kinase activity. Involved in negative regulation of macroautophagy. Predicted to localize to cytoplasm and endomembrane system; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; acrylamide; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp434P086; MGC138699; nuclear receptor-binding protein 2; pp9320; transformation-related protein 16; TRG16
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 Ensembl8143,833,583 - 143,840,973 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,829,776 - 143,840,974 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,915,753 - 144,923,145 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,987,904 - 144,996,188 (-)NCBINCBI36hg18NCBI36
Build 348144,987,904 - 144,996,188NCBI
Celera8141,228,817 - 141,236,205 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,168,718 - 140,176,108 (-)NCBIHuRef
CHM1_18144,956,000 - 144,963,398 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,ISS)
endomembrane system  (IBA)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:15498874   PMID:18619852   PMID:21873635   PMID:22354037   PMID:25416956   PMID:26186194   PMID:26496610   PMID:28514442   PMID:29802200  
PMID:31009519   PMID:31253590  


Genomics

Comparative Map Data
NRBP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,833,583 - 143,840,973 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,829,776 - 143,840,974 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,915,753 - 144,923,145 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,987,904 - 144,996,188 (-)NCBINCBI36hg18NCBI36
Build 348144,987,904 - 144,996,188NCBI
Celera8141,228,817 - 141,236,205 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,168,718 - 140,176,108 (-)NCBIHuRef
CHM1_18144,956,000 - 144,963,398 (-)NCBICHM1_1
Nrbp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,957,364 - 75,963,539 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,957,367 - 75,963,476 (-)Ensembl
GRCm381576,085,515 - 76,091,690 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,085,518 - 76,091,627 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,916,024 - 75,920,443 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,912,849 - 75,917,268 (-)NCBImm8
Celera1577,586,521 - 77,590,940 (-)NCBICelera
Cytogenetic Map15D3NCBI
Nrbp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,798,642 - 107,805,230 (-)NCBI
Rnor_6.0 Ensembl7117,145,961 - 117,151,694 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,145,106 - 117,151,694 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,130,777 - 117,137,365 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,117,884 - 114,123,617 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7104,156,103 - 104,161,836 (-)NCBICelera
Cytogenetic Map7q34NCBI
Nrbp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554542,500,360 - 2,507,372 (-)NCBIChiLan1.0ChiLan1.0
NRBP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,597,441 - 143,607,407 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,600,061 - 143,607,298 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,588,105 - 140,595,499 (-)NCBIMhudiblu_PPA_v0panPan3
NRBP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,391,385 - 37,398,691 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,392,436 - 37,398,076 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,347,508 - 37,354,890 (-)NCBI
ROS_Cfam_1.01337,862,959 - 37,870,343 (-)NCBI
UMICH_Zoey_3.11337,537,023 - 37,544,401 (-)NCBI
UNSW_CanFamBas_1.01337,653,975 - 37,661,358 (-)NCBI
UU_Cfam_GSD_1.01338,135,334 - 38,142,718 (-)NCBI
Nrbp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303901,220 - 907,474 (+)NCBI
SpeTri2.0NW_0049364708,327,326 - 8,333,573 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRBP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4800,059 - 808,024 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14800,722 - 808,031 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NRBP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,051,058 - 138,059,484 (-)NCBI
ChlSab1.1 Ensembl8138,048,903 - 138,058,553 (-)Ensembl
Nrbp2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,972,615 - 12,982,936 (+)NCBI

Position Markers
G44304  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.3UniSTS
HuRef8140,169,681 - 140,169,813UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5676
Count of miRNA genes:1014
Interacting mature miRNAs:1222
Transcripts:ENST00000327830, ENST00000423469, ENST00000442628, ENST00000527545, ENST00000529747, ENST00000530123, ENST00000530347, ENST00000531729, ENST00000532940, ENST00000533093, ENST00000533846
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2380 2212 1697 614 658 456 4004 1789 3694 360 1409 1543 171 1204 2461 2
Low 59 775 29 10 1264 9 353 408 40 59 49 70 3 1 327 4 2
Below cutoff 4 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_178564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC234917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI094905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY277601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000423469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,833,742 - 143,838,074 (-)Ensembl
RefSeq Acc Id: ENST00000442628   ⟹   ENSP00000414055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,833,583 - 143,840,973 (-)Ensembl
RefSeq Acc Id: ENST00000527545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,833,747 - 143,837,150 (-)Ensembl
RefSeq Acc Id: ENST00000529747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,833,600 - 143,840,029 (-)Ensembl
RefSeq Acc Id: ENST00000530123   ⟹   ENSP00000431280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,835,018 - 143,837,132 (-)Ensembl
RefSeq Acc Id: ENST00000530347   ⟹   ENSP00000432374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,838,679 - 143,840,630 (-)Ensembl
RefSeq Acc Id: ENST00000531729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,835,662 - 143,838,062 (-)Ensembl
RefSeq Acc Id: ENST00000532940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,835,530 - 143,840,213 (-)Ensembl
RefSeq Acc Id: ENST00000533093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,833,594 - 143,840,951 (-)Ensembl
RefSeq Acc Id: ENST00000533846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,835,530 - 143,840,213 (-)Ensembl
RefSeq Acc Id: NM_178564   ⟹   NP_848659
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,833,583 - 143,840,973 (-)NCBI
GRCh378144,915,755 - 144,924,200 (-)NCBI
Build 368144,987,904 - 144,996,188 (-)NCBI Archive
Celera8141,228,817 - 141,236,205 (-)RGD
HuRef8140,168,718 - 140,176,108 (-)NCBI
CHM1_18144,956,000 - 144,963,398 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013378   ⟹   XP_016868867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,832,935 - 143,840,974 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013379   ⟹   XP_016868868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,832,937 - 143,840,974 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013380   ⟹   XP_016868869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,833,721 - 143,840,974 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013381   ⟹   XP_016868870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,833,721 - 143,840,974 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013382   ⟹   XP_016868871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,830,297 - 143,840,974 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013383   ⟹   XP_016868872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,833,721 - 143,840,974 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745528
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,830,088 - 143,840,974 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745529
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,829,776 - 143,840,974 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_848659   ⟸   NM_178564
- UniProtKB: Q9NSY0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868871   ⟸   XM_017013382
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016868867   ⟸   XM_017013378
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016868868   ⟸   XM_017013379
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868872   ⟸   XM_017013383
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016868869   ⟸   XM_017013380
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868870   ⟸   XM_017013381
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000432374   ⟸   ENST00000530347
RefSeq Acc Id: ENSP00000431280   ⟸   ENST00000530123
RefSeq Acc Id: ENSP00000414055   ⟸   ENST00000442628
Protein Domains
Protein kinase

Promoters
RGD ID:7214391
Promoter ID:EPDNEW_H12942
Type:initiation region
Name:NRBP2_1
Description:nuclear receptor binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,840,967 - 143,841,027EPDNEW
RGD ID:6806917
Promoter ID:HG_KWN:62290
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_178564,   UC003YZV.2,   UC003YZX.1,   UC010MFM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,994,754 - 144,995,254 (-)MPROMDB
RGD ID:6806905
Promoter ID:HG_KWN:62291
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003YZY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,996,626 - 144,997,126 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144775871-144943223)x3 copy number gain not provided [RCV000747964] Chr8:144775871..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144808293-144943223)x3 copy number gain not provided [RCV000747968] Chr8:144808293..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144810306-144943223)x3 copy number gain not provided [RCV000747974] Chr8:144810306..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811338-145058399)x3 copy number gain not provided [RCV000747975] Chr8:144811338..145058399 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811340-144943223)x3 copy number gain not provided [RCV000747976] Chr8:144811340..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19339 AgrOrtholog
COSMIC NRBP2 COSMIC
Ensembl Genes ENSG00000185189 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000414055 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431280 UniProtKB/TrEMBL
  ENSP00000432374 UniProtKB/TrEMBL
Ensembl Transcript ENST00000442628 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530123 UniProtKB/TrEMBL
  ENST00000530347 UniProtKB/TrEMBL
GTEx ENSG00000185189 GTEx
HGNC ID HGNC:19339 ENTREZGENE
Human Proteome Map NRBP2 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRBP2_PK UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/TrEMBL
KEGG Report hsa:340371 UniProtKB/Swiss-Prot
NCBI Gene 340371 ENTREZGENE
OMIM 615563 OMIM
Pfam Pkinase UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/TrEMBL
PharmGKB PA134891143 PharmGKB
PROSITE PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DWK9_HUMAN UniProtKB/TrEMBL
  E9PR11_HUMAN UniProtKB/TrEMBL
  H0YCB1_HUMAN UniProtKB/TrEMBL
  NRBP2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DF59 UniProtKB/Swiss-Prot
  Q2HIX8 UniProtKB/Swiss-Prot
  Q597G7 UniProtKB/Swiss-Prot
  Q8NCX8 UniProtKB/Swiss-Prot
  Q8WYS5 UniProtKB/Swiss-Prot