NOP58 (NOP58 ribonucleoprotein) - Rat Genome Database

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Gene: NOP58 (NOP58 ribonucleoprotein) Homo sapiens
Analyze
Symbol: NOP58
Name: NOP58 ribonucleoprotein
RGD ID: 733462
HGNC Page HGNC:29926
Description: Enables ATPase binding activity; TFIID-class transcription factor complex binding activity; and snoRNA binding activity. Involved in ribosomal small subunit biogenesis and snoRNA localization. Located in Cajal body; cytosol; and fibrillar center. Part of box C/D methylation guide snoRNP complex; pre-snoRNP complex; and small-subunit processome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HSPC120; NOP5; NOP5/NOP58; NOP58 ribonucleoprotein homolog; nucleolar protein 5; nucleolar protein 58; nucleolar protein NOP5/NOP58
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100421258  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382202,265,763 - 202,303,661 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,265,736 - 202,303,661 (+)EnsemblGRCh38hg38GRCh38
GRCh372203,130,486 - 203,168,384 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,838,760 - 202,876,629 (+)NCBINCBI36Build 36hg18NCBI36
Build 342202,956,020 - 202,993,888NCBI
Celera2196,882,417 - 196,920,291 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2194,979,023 - 195,015,805 (+)NCBIHuRef
CHM1_12203,136,987 - 203,174,808 (+)NCBICHM1_1
T2T-CHM13v2.02202,746,796 - 202,784,682 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP)
hydroxyurea  (ISO)
indole-3-methanol  (ISO)
ivermectin  (EXP)
menadione  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methidathion  (ISO)
methimazole  (ISO)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
p-anisidine  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenobarbital  (ISO)
phorone  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrimidifen  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
Tributyltin oxide  (ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA. Watkins NJ and Bohnsack MT, Wiley Interdiscip Rev RNA. 2012 May-Jun;3(3):397-414. doi: 10.1002/wrna.117. Epub 2011 Nov 7.
Additional References at PubMed
PMID:10606270   PMID:10648622   PMID:10679015   PMID:10925205   PMID:11042152   PMID:12032086   PMID:12417735   PMID:12429849   PMID:12477932   PMID:12777385   PMID:14702039   PMID:15342556  
PMID:15489334   PMID:15574333   PMID:15635413   PMID:16565220   PMID:16687569   PMID:16751776   PMID:17081983   PMID:17636026   PMID:17643375   PMID:18029348   PMID:19454010   PMID:19620283  
PMID:19738201   PMID:19805454   PMID:19928837   PMID:19946888   PMID:20020773   PMID:20360068   PMID:20797632   PMID:20797634   PMID:21145461   PMID:21182205   PMID:21280222   PMID:21522132  
PMID:21654808   PMID:21873635   PMID:22113938   PMID:22174317   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22939629   PMID:23602568   PMID:24457600   PMID:24711643  
PMID:25074380   PMID:25315684   PMID:25404746   PMID:25665578   PMID:25921289   PMID:25948554   PMID:26186194   PMID:26300262   PMID:26344197   PMID:26399832   PMID:26496610   PMID:26638075  
PMID:26673895   PMID:26687479   PMID:26725010   PMID:26777405   PMID:26867678   PMID:26870752   PMID:26949251   PMID:26949739   PMID:27025967   PMID:27248496   PMID:27342126   PMID:27437069  
PMID:27505670   PMID:27634302   PMID:27684187   PMID:27705803   PMID:27780869   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28700943   PMID:28712289   PMID:28973437  
PMID:28977666   PMID:29128334   PMID:29180619   PMID:29298432   PMID:29467282   PMID:29478914   PMID:29499938   PMID:29507755   PMID:29509190   PMID:29511261   PMID:29564676   PMID:29568061  
PMID:29802200   PMID:29844126   PMID:29845934   PMID:29911972   PMID:29955894   PMID:30021884   PMID:30033366   PMID:30154076   PMID:30209976   PMID:30217970   PMID:30415952   PMID:30462309  
PMID:30463901   PMID:30540930   PMID:30554943   PMID:30575818   PMID:30699358   PMID:30700579   PMID:30804502   PMID:30833792   PMID:30884312   PMID:30940648   PMID:30945288   PMID:30948266  
PMID:31048545   PMID:31076518   PMID:31091453   PMID:31180492   PMID:31343991   PMID:31353912   PMID:31586073   PMID:31685992   PMID:31696213   PMID:31822558   PMID:31980649   PMID:31995728  
PMID:32068487   PMID:32129710   PMID:32160526   PMID:32203420   PMID:32416067   PMID:32538781   PMID:32665550   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32744500   PMID:32780723  
PMID:32807901   PMID:32877691   PMID:32989298   PMID:32994395   PMID:33022573   PMID:33226137   PMID:33239621   PMID:33301849   PMID:33306668   PMID:33367824   PMID:33567341   PMID:33644029  
PMID:33658012   PMID:33729478   PMID:33742100   PMID:33852194   PMID:33957083   PMID:33961781   PMID:34014550   PMID:34079125   PMID:34189442   PMID:34373451   PMID:34516797   PMID:34578187  
PMID:34709727   PMID:34732716   PMID:34767673   PMID:35013218   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35563538   PMID:35652658  
PMID:35681168   PMID:35831314   PMID:35850772   PMID:35915203   PMID:35941108   PMID:35944360   PMID:35989368   PMID:36057605   PMID:36089195   PMID:36114006   PMID:36215168   PMID:36232890  
PMID:36244648   PMID:36273042   PMID:36373674   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36597993   PMID:36912080   PMID:37001908   PMID:37071664   PMID:37071682  
PMID:37132043   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37616343   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38172120   PMID:38280479   PMID:38697112   PMID:39147351  


Genomics

Comparative Map Data
NOP58
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382202,265,763 - 202,303,661 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,265,736 - 202,303,661 (+)EnsemblGRCh38hg38GRCh38
GRCh372203,130,486 - 203,168,384 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,838,760 - 202,876,629 (+)NCBINCBI36Build 36hg18NCBI36
Build 342202,956,020 - 202,993,888NCBI
Celera2196,882,417 - 196,920,291 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2194,979,023 - 195,015,805 (+)NCBIHuRef
CHM1_12203,136,987 - 203,174,808 (+)NCBICHM1_1
T2T-CHM13v2.02202,746,796 - 202,784,682 (+)NCBIT2T-CHM13v2.0
Nop58
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39159,724,165 - 59,751,352 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl159,724,130 - 59,758,203 (+)EnsemblGRCm39 Ensembl
GRCm38159,684,961 - 59,711,510 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl159,684,971 - 59,719,044 (+)EnsemblGRCm38mm10GRCm38
MGSCv37159,741,850 - 59,768,354 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36159,629,645 - 59,656,054 (+)NCBIMGSCv36mm8
Celera160,199,706 - 60,226,206 (+)NCBICelera
Cytogenetic Map1C2NCBI
cM Map130.38NCBI
Nop58
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8968,614,992 - 68,638,911 (+)NCBIGRCr8
mRatBN7.2961,120,939 - 61,144,810 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl961,120,929 - 61,144,810 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx969,615,623 - 69,639,722 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0974,731,599 - 74,755,698 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0973,049,892 - 73,073,989 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0966,495,881 - 66,520,521 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl966,495,832 - 66,519,788 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0966,300,036 - 66,323,766 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4958,255,685 - 58,279,522 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1958,402,666 - 58,426,502 (+)NCBI
Celera958,555,582 - 58,579,638 (+)NCBICelera
Cytogenetic Map9q31NCBI
Nop58
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545712,479,965 - 12,511,678 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545712,481,467 - 12,511,678 (-)NCBIChiLan1.0ChiLan1.0
NOP58
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213104,890,221 - 104,928,093 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B104,905,239 - 104,943,091 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B89,520,961 - 89,558,794 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B207,674,433 - 207,707,763 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B207,674,654 - 207,707,763 (+)Ensemblpanpan1.1panPan2
NOP58
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13711,255,562 - 11,287,325 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3711,255,589 - 11,287,279 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3712,138,970 - 12,170,731 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03711,191,615 - 11,223,536 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3711,191,646 - 11,223,757 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13711,142,546 - 11,173,876 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03711,121,045 - 11,152,921 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03711,114,468 - 11,146,228 (+)NCBIUU_Cfam_GSD_1.0
Nop58
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303159,486,721 - 159,517,681 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367261,457,002 - 1,486,530 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367261,457,038 - 1,487,374 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOP58
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15105,893,637 - 105,930,459 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115105,893,589 - 105,930,458 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215117,351,116 - 117,380,896 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NOP58
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11087,989,687 - 88,026,774 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1087,989,699 - 88,026,904 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040111,362,208 - 111,399,710 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nop58
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476514,139,815 - 14,172,413 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NOP58
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
NC_000002.12:g.202249539_202474756del225218 deletion Pulmonary hypertension, primary, 1 [RCV000488824] Chr2:202249539..202474756 [GRCh38]
Chr2:203114262..203339479 [GRCh37]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3 copy number gain See cases [RCV000134147] Chr2:201674160..202308811 [GRCh38]
Chr2:202538883..203173534 [GRCh37]
Chr2:202247128..202881779 [NCBI36]
Chr2:2q33.1
uncertain significance
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q33.1(chr2:203146719-203226067)x1 copy number loss not provided [RCV000681992] Chr2:203146719..203226067 [GRCh37]
Chr2:2q33.1
uncertain significance
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004034] Chr2:202772963..205218660 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q33.1-33.2(chr2:203065308-204366776)x3 copy number gain not provided [RCV000740848] Chr2:203065308..204366776 [GRCh37]
Chr2:2q33.1-33.2
benign
GRCh37/hg19 2q33.1-33.2(chr2:203134839-203358214)x3 copy number gain not provided [RCV000740849] Chr2:203134839..203358214 [GRCh37]
Chr2:2q33.1-33.2
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34
pathogenic
NM_015934.5(NOP58):c.1123T>C (p.Phe375Leu) single nucleotide variant not specified [RCV004285922] Chr2:202297430 [GRCh38]
Chr2:203162153 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NC_000002.11:g.(?_201943606)_(204824322_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV003105677]|Immunodeficiency, common variable, 1 [RCV003122553] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2
uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34
pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004036] Chr2:203137870..203296088 [GRCh37]
Chr2:2q33.1
pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004035] Chr2:202999402..203485750 [GRCh37]
Chr2:2q33.1-33.2
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.11:g.(?_202566574)_(203424669_?)del deletion Primary pulmonary hypertension [RCV001946571] Chr2:202566574..203424669 [GRCh37]
Chr2:2q33.1-33.2
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34
pathogenic
NC_000002.11:g.(?_201943606)_(204824322_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001950956]|Autoimmune lymphoproliferative syndrome type 2B [RCV001950955]|Immunodeficiency, common variable, 1 [RCV003120780] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2
pathogenic
NM_015934.5(NOP58):c.782T>C (p.Val261Ala) single nucleotide variant not specified [RCV004230861] Chr2:202292778 [GRCh38]
Chr2:203157501 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.257C>A (p.Pro86Gln) single nucleotide variant not specified [RCV004144774] Chr2:202282432 [GRCh38]
Chr2:203147155 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.1036C>T (p.Leu346Phe) single nucleotide variant not specified [RCV004104306] Chr2:202295802 [GRCh38]
Chr2:203160525 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.946G>A (p.Val316Ile) single nucleotide variant not specified [RCV004213304] Chr2:202295712 [GRCh38]
Chr2:203160435 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.1468A>G (p.Arg490Gly) single nucleotide variant not specified [RCV004212374] Chr2:202302986 [GRCh38]
Chr2:203167709 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.1166C>T (p.Ala389Val) single nucleotide variant not specified [RCV004146292] Chr2:202297473 [GRCh38]
Chr2:203162196 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.617A>G (p.Lys206Arg) single nucleotide variant not specified [RCV004279785] Chr2:202290440 [GRCh38]
Chr2:203155163 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.511G>T (p.Asp171Tyr) single nucleotide variant not specified [RCV004332511] Chr2:202290334 [GRCh38]
Chr2:203155057 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1
pathogenic
NM_015934.5(NOP58):c.154G>C (p.Asp52His) single nucleotide variant not specified [RCV004342009] Chr2:202277981 [GRCh38]
Chr2:203142704 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1-33.2(chr2:203073570-203429007)x3 copy number gain not provided [RCV003484084] Chr2:203073570..203429007 [GRCh37]
Chr2:2q33.1-33.2
uncertain significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34
pathogenic
NM_015934.5(NOP58):c.1315T>C (p.Cys439Arg) single nucleotide variant not specified [RCV004488122] Chr2:202300280 [GRCh38]
Chr2:203165003 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.131T>G (p.Leu44Arg) single nucleotide variant not specified [RCV004488123] Chr2:202277958 [GRCh38]
Chr2:203142681 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.1382A>G (p.Lys461Arg) single nucleotide variant not specified [RCV004488124] Chr2:202300347 [GRCh38]
Chr2:203165070 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.25G>C (p.Val9Leu) single nucleotide variant not specified [RCV004488125] Chr2:202265966 [GRCh38]
Chr2:203130689 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.398G>T (p.Arg133Leu) single nucleotide variant not specified [RCV004488126] Chr2:202284445 [GRCh38]
Chr2:203149168 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.1031C>T (p.Ala344Val) single nucleotide variant not specified [RCV004643935] Chr2:202295797 [GRCh38]
Chr2:203160520 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.1255T>A (p.Tyr419Asn) single nucleotide variant not specified [RCV004647549] Chr2:202297893 [GRCh38]
Chr2:203162616 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_015934.5(NOP58):c.1202G>A (p.Arg401Lys) single nucleotide variant not specified [RCV004643936] Chr2:202297509 [GRCh38]
Chr2:203162232 [GRCh37]
Chr2:2q33.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1118
Count of miRNA genes:690
Interacting mature miRNAs:778
Transcripts:ENST00000264279, ENST00000426814, ENST00000433543, ENST00000467734, ENST00000472050, ENST00000478508, ENST00000478941, ENST00000488403, ENST00000492688, ENST00000492740
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
407269540GWAS918516_HC-reactive protein measurement QTL GWAS918516 (human)2e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)2202272149202272150Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407359984GWAS1008960_Htriglyceride measurement QTL GWAS1008960 (human)2e-08triglyceride measurementblood triglyceride level (CMO:0000118)2202299860202299861Human
407164141GWAS813117_Halkaline phosphatase measurement QTL GWAS813117 (human)3e-14alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2202288044202288045Human
407346571GWAS995547_Htriglyceride measurement QTL GWAS995547 (human)3e-09triglyceride measurementblood triglyceride level (CMO:0000118)2202299860202299861Human
407104189GWAS753165_Hmean corpuscular hemoglobin QTL GWAS753165 (human)9e-12mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)2202299026202299027Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human
407292233GWAS941209_HC-reactive protein measurement QTL GWAS941209 (human)3e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)2202272149202272150Human

Markers in Region
SHGC-56589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371660,058,413 - 60,058,560UniSTSGRCh37
GRCh372203,167,754 - 203,168,230UniSTSGRCh37
Build 362202,875,999 - 202,876,475RGDNCBI36
Celera1644,558,725 - 44,558,872UniSTS
Celera2196,919,661 - 196,920,137RGD
Cytogenetic Map2q33.1UniSTS
HuRef1645,925,618 - 45,925,765UniSTS
HuRef2195,015,175 - 195,015,651UniSTS
TNG Radiation Hybrid Map1625200.0UniSTS
RH102461  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q33.1UniSTS
RH76425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q33.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC064836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF123534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF263608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP245255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ586402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264279   ⟹   ENSP00000264279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,265,763 - 202,303,661 (+)Ensembl
Ensembl Acc Id: ENST00000426814   ⟹   ENSP00000388905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,265,736 - 202,284,378 (+)Ensembl
Ensembl Acc Id: ENST00000433543   ⟹   ENSP00000388126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,284,438 - 202,297,906 (+)Ensembl
Ensembl Acc Id: ENST00000467734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,265,779 - 202,284,481 (+)Ensembl
Ensembl Acc Id: ENST00000472050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,265,765 - 202,284,434 (+)Ensembl
Ensembl Acc Id: ENST00000478508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,299,858 - 202,303,433 (+)Ensembl
Ensembl Acc Id: ENST00000478941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,278,131 - 202,290,372 (+)Ensembl
Ensembl Acc Id: ENST00000488403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,265,736 - 202,284,712 (+)Ensembl
Ensembl Acc Id: ENST00000492688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,275,162 - 202,291,051 (+)Ensembl
Ensembl Acc Id: ENST00000492740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,265,765 - 202,275,683 (+)Ensembl
RefSeq Acc Id: NM_015934   ⟹   NP_057018
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,265,763 - 202,303,661 (+)NCBI
GRCh372203,130,515 - 203,168,384 (+)RGD
Build 362202,838,760 - 202,876,629 (+)NCBI Archive
Celera2196,882,417 - 196,920,291 (+)RGD
HuRef2194,979,023 - 195,015,805 (+)RGD
CHM1_12203,136,911 - 203,174,808 (+)NCBI
T2T-CHM13v2.02202,746,796 - 202,784,682 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057018   ⟸   NM_015934
- UniProtKB: Q9P036 (UniProtKB/Swiss-Prot),   Q6PK08 (UniProtKB/Swiss-Prot),   Q53SA4 (UniProtKB/Swiss-Prot),   Q9UFN3 (UniProtKB/Swiss-Prot),   Q9Y2X3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000388905   ⟸   ENST00000426814
Ensembl Acc Id: ENSP00000388126   ⟸   ENST00000433543
Ensembl Acc Id: ENSP00000264279   ⟸   ENST00000264279
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2X3-F1-model_v2 AlphaFold Q9Y2X3 1-529 view protein structure

Promoters
RGD ID:6862594
Promoter ID:EPDNEW_H4446
Type:initiation region
Name:NOP58_1
Description:NOP58 ribonucleoprotein
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
GRCh382202,265,771 - 202,265,831EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29926 AgrOrtholog
COSMIC NOP58 COSMIC
Ensembl Genes ENSG00000055044 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264279 ENTREZGENE
  ENST00000264279.10 UniProtKB/Swiss-Prot
  ENST00000426814.5 UniProtKB/TrEMBL
  ENST00000433543.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.246.90 UniProtKB/Swiss-Prot
  1.10.287.4070 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000055044 GTEx
HGNC ID HGNC:29926 ENTREZGENE
Human Proteome Map NOP58 Human Proteome Map
InterPro Nop56/Nop58 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOP5_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nop_C UniProtKB/Swiss-Prot
  Nop_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nop_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOSIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51602 UniProtKB/Swiss-Prot
NCBI Gene 51602 ENTREZGENE
OMIM 616742 OMIM
PANTHER NUCLEOLAR PROTEIN 58 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10894 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nop UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOP5NT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164724092 PharmGKB
PROSITE NOP UniProtKB/Swiss-Prot
SMART NOSIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF89124 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F8WED0_HUMAN UniProtKB/TrEMBL
  H7BZ72_HUMAN UniProtKB/TrEMBL
  NOP58_HUMAN UniProtKB/Swiss-Prot
  Q53SA4 ENTREZGENE
  Q6PK08 ENTREZGENE
  Q9P036 ENTREZGENE
  Q9UFN3 ENTREZGENE
  Q9Y2X3 ENTREZGENE
UniProt Secondary Q53SA4 UniProtKB/Swiss-Prot
  Q6PK08 UniProtKB/Swiss-Prot
  Q9P036 UniProtKB/Swiss-Prot
  Q9UFN3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 NOP58  NOP58 ribonucleoprotein    NOP58 ribonucleoprotein homolog (yeast)  Symbol and/or name change 5135510 APPROVED
2011-07-27 NOP58  NOP58 ribonucleoprotein homolog (yeast)  NOP5/NOP58  nucleolar protein NOP5/NOP58  Symbol and/or name change 5135510 APPROVED