Nipbl (NIPBL, cohesin loading factor) - Rat Genome Database

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Gene: Nipbl (NIPBL, cohesin loading factor) Rattus norvegicus
Analyze
Symbol: Nipbl
Name: NIPBL, cohesin loading factor
RGD ID: 1306393
Description: Predicted to enable several functions, including chromo shadow domain binding activity; cohesin loader activity; and histone deacetylase binding activity. Predicted to be involved in several processes, including chromosome organization; embryonic morphogenesis; and reproductive structure development. Predicted to act upstream of or within several processes, including embryonic viscerocranium morphogenesis; fat cell differentiation; and positive regulation of ossification. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of Scc2-Scc4 cohesin loading complex; chromatin; and integrator complex. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome and Cornelia de Lange syndrome 1. Orthologous to human NIPBL (NIPBL cohesin loading factor); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; acrylamide.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: delangin; IDN3; Nipped-B homolog; Nipped-B homolog (Drosophila); nipped-B-like protein
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8259,126,676 - 59,314,841 (-)NCBIGRCr8
mRatBN7.2257,399,443 - 57,586,770 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl257,399,445 - 57,565,899 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0257,508,830 - 57,676,197 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl257,509,428 - 57,600,820 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0278,992,721 - 79,160,884 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4257,908,828 - 58,099,422 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1257,837,538 - 58,006,254 (-)NCBI
Celera253,014,297 - 53,179,686 (-)NCBICelera
Cytogenetic Map2q16NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
6-propyl-2-thiouracil  (EXP)
acrylamide  (EXP)
afimoxifene  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (EXP)
antirheumatic drug  (ISO)
aristolochic acid A  (ISO)
Aroclor 1254  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bisphenol A  (EXP)
Bisphenol A diglycidyl ether  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
cerium trichloride  (ISO)
choline  (ISO)
cisplatin  (ISO)
clorgyline  (ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (ISO)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (ISO)
elemental selenium  (ISO)
enzyme inhibitor  (ISO)
epoxiconazole  (ISO)
fenthion  (ISO)
folic acid  (ISO)
FR900359  (ISO)
gamma-hexachlorocyclohexane  (EXP)
geldanamycin  (ISO)
genistein  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
inulin  (ISO)
L-methionine  (ISO)
leflunomide  (ISO)
maneb  (ISO)
methimazole  (EXP)
oxaliplatin  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
pyridaben  (ISO)
quercetin  (ISO)
rotenone  (EXP)
SB 431542  (ISO)
selenium atom  (ISO)
sodium arsenate  (ISO)
sulfadimethoxine  (EXP)
thimerosal  (ISO)
topotecan  (EXP)
trichostatin A  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (ISO)
valproic acid  (ISO)
vinclozolin  (EXP)
vitamin E  (ISO)
vorinostat  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
biological_process  (ND)
brain development  (IBA,ISO)
cellular response to X-ray  (ISO)
chromatin remodeling  (ISO)
cognition  (ISO)
developmental growth  (ISO)
digestive tract development  (IBA)
DNA damage response  (ISO)
ear morphogenesis  (ISO)
embryonic cranial skeleton morphogenesis  (ISO)
embryonic digestive tract morphogenesis  (ISO)
embryonic forelimb morphogenesis  (ISO)
embryonic viscerocranium morphogenesis  (IBA,ISO)
establishment of mitotic sister chromatid cohesion  (IBA)
establishment of protein localization to chromatin  (IBA,IEA)
external genitalia morphogenesis  (ISO)
eye morphogenesis  (ISO)
face morphogenesis  (ISO)
fat cell differentiation  (ISO)
forelimb morphogenesis  (ISO)
gallbladder development  (ISO)
heart development  (ISO)
heart morphogenesis  (IBA,ISO)
maintenance of mitotic sister chromatid cohesion  (ISO)
mitotic cohesin loading  (IEA)
mitotic sister chromatid cohesion  (ISO)
mitotic sister chromatid segregation  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
outflow tract morphogenesis  (ISO)
positive regulation of multicellular organism growth  (ISO)
positive regulation of neuron migration  (ISO)
positive regulation of ossification  (ISO)
positive regulation of transcription by RNA polymerase II  (ISO)
protein localization  (ISO)
regulation of developmental growth  (ISO)
regulation of embryonic development  (ISO)
regulation of hair cycle  (ISO)
regulation of transcription by RNA polymerase II  (ISO)
replication-born double-strand break repair via sister chromatid exchange  (IBA,IEA)
sensory perception of sound  (ISO)
somatic stem cell population maintenance  (ISO)
uterus morphogenesis  (ISO)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. Kaur M, etal., Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):163-70. doi: 10.1002/ajmg.c.31495. Epub 2016 Apr 29.
3. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. Kawauchi S, etal., PLoS Genet. 2009 Sep;5(9):e1000650. doi: 10.1371/journal.pgen.1000650. Epub 2009 Sep 18.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Comprehensive gene review and curation RGD comprehensive gene curation
9. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Russo S, etal., Eur J Hum Genet. 2012 Jul;20(7):734-41. doi: 10.1038/ejhg.2012.7. Epub 2012 Feb 22.
Additional References at PubMed
PMID:8291537   PMID:15146186   PMID:15882967   PMID:16100726   PMID:16682347   PMID:16802858   PMID:17468178   PMID:17577209   PMID:18854353   PMID:19056867   PMID:19242925   PMID:20720539  
PMID:22628566   PMID:23920377   PMID:28041881   PMID:29094699  


Genomics

Comparative Map Data
Nipbl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8259,126,676 - 59,314,841 (-)NCBIGRCr8
mRatBN7.2257,399,443 - 57,586,770 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl257,399,445 - 57,565,899 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0257,508,830 - 57,676,197 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl257,509,428 - 57,600,820 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0278,992,721 - 79,160,884 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4257,908,828 - 58,099,422 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1257,837,538 - 58,006,254 (-)NCBI
Celera253,014,297 - 53,179,686 (-)NCBICelera
Cytogenetic Map2q16NCBI
NIPBL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38536,876,769 - 37,066,413 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl536,876,769 - 37,066,413 (+)EnsemblGRCh38hg38GRCh38
GRCh37536,876,871 - 37,066,515 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36536,912,742 - 37,101,678 (+)NCBINCBI36Build 36hg18NCBI36
Celera536,763,790 - 36,952,889 (+)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef536,829,492 - 37,018,602 (+)NCBIHuRef
CHM1_1536,879,597 - 37,068,738 (+)NCBICHM1_1
T2T-CHM13v2.0537,126,599 - 37,316,247 (+)NCBIT2T-CHM13v2.0
Nipbl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,319,308 - 8,494,799 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl158,320,101 - 8,473,947 (-)EnsemblGRCm39 Ensembl
GRCm38158,289,824 - 8,465,315 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl158,290,617 - 8,444,463 (-)EnsemblGRCm38mm10GRCm38
MGSCv37158,241,225 - 8,394,463 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36158,238,440 - 8,391,678 (-)NCBIMGSCv36mm8
Celera158,136,258 - 8,289,610 (-)NCBICelera
Cytogenetic Map15A1NCBI
cM Map153.82NCBI
Nipbl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542621,666,857 - 21,841,515 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542621,666,958 - 21,841,515 (+)NCBIChiLan1.0ChiLan1.0
NIPBL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2473,270,202 - 73,457,542 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1571,423,834 - 71,611,174 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0573,306,527 - 73,491,367 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1578,585,649 - 78,772,665 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl578,585,649 - 78,698,184 (-)Ensemblpanpan1.1panPan2
NIPBL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1471,583,118 - 71,780,986 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl471,583,732 - 71,780,852 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha471,193,245 - 71,390,556 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0472,093,046 - 72,290,807 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl472,093,358 - 72,290,830 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1471,840,270 - 72,037,537 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0471,962,190 - 72,159,916 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0472,493,866 - 72,691,524 (-)NCBIUU_Cfam_GSD_1.0
Nipbl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213226,330,734 - 226,501,147 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365184,869,546 - 4,969,450 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365184,870,686 - 5,041,099 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NIPBL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1622,152,469 - 22,363,821 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11622,152,455 - 22,364,373 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21623,393,877 - 23,512,467 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NIPBL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1435,748,112 - 35,940,075 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl435,829,386 - 35,941,271 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607126,085,896 - 26,277,759 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nipbl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475917,899,152 - 17,999,295 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475917,899,152 - 18,078,213 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Nipbl
440 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:36
Count of miRNA genes:30
Interacting mature miRNAs:34
Transcripts:ENSRNOT00000021181, ENSRNOT00000065395
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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298074Bp164Blood pressure QTL 1640.003arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)242804607202447032Rat
1298085Bp165Blood pressure QTL 1650.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)242804607202447032Rat
6480225Gdil1Gastrointestinal dilation QTL 1enteric ganglion morphology trait (VT:0001045)length of intestine affected by colonic aganglionosis to total length of colon ratio (CMO:0001836)25666087974786777Rat
9590095Sffal3Serum free fatty acids level QTL 36.780.001blood free fatty acid amount (VT:0001553)plasma free fatty acids level (CMO:0000546)22715716072157160Rat
1331760Bp206Blood pressure QTL 2063.62454arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)256043031202447032Rat
10402051Gdil2Gastrointestinal dilation QTL 2enteric ganglion morphology trait (VT:0001045)length of intestine affected by colonic aganglionosis to total length of colon ratio (CMO:0001836)22490385374786777Rat
1300155Bp174Blood pressure QTL 1744.09arterial blood pressure trait (VT:2000000)absolute change in mean arterial blood pressure (CMO:0000533)24280460760653831Rat
1302794Stl27Serum triglyceride level QTL 274.40.0001blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)225413423143657569Rat
1354592Rf50Renal function QTL 503.5urine output (VT:0003620)timed urine volume (CMO:0000260)25382274774786777Rat
1354601Slep1Serum leptin concentration QTL 15.39blood leptin amount (VT:0005667)serum leptin level (CMO:0000780)243171017184114403Rat
1354603Bp243Blood pressure QTL 2433.9arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)226917817127469484Rat
1354617Bp240Blood pressure QTL 2404arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)22691781781754745Rat
1354617Bp240Blood pressure QTL 2404arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)22691781781754745Rat
1354617Bp240Blood pressure QTL 2404arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)22691781781754745Rat
1357990Ael1Aortic elastin QTL 13.10.00091aorta elastin amount (VT:0003905)aortic elastin21907682564076825Rat
1579916Bp270Blood pressure QTL 2700.003arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)25653191259324719Rat
61371Edpm1Estrogen-dependent pituitary mass QTL 140.05pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)23513484188029593Rat
2290453Scl55Serum cholesterol level QTL 552.83blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)226917817136917119Rat
631208Bw1Body weight QTL15.09mesenteric fat pad mass (VT:0010427)mesenteric fat pad weight to body weight ratio (CMO:0000654)24317101783575226Rat
631266Bp132Blood pressure QTL 1320.0005arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)246123260202447032Rat
61467Bp14Blood pressure QTL 142.2arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)243154682202446871Rat
61467Bp14Blood pressure QTL 142.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)243154682202446871Rat
2293835Kiddil5Kidney dilation QTL 53.8kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)242804607157142209Rat
2293843Kiddil6Kidney dilation QTL 63.1kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)242804607182042367Rat
2293671Bss44Bone structure and strength QTL 4410.970.0001lumbar vertebra morphology trait (VT:0010494)lumbar vertebra cortical cross-sectional area (CMO:0001690)243162366148478373Rat
1358899Kidm23Kidney mass QTL 233.88kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
61355Bp36Blood pressure QTL 362.9blood pressure trait (VT:0000183)systolic blood pressure (CMO:0000004)25873687102844969Rat
1358911Kidm28Kidney mass QTL 285.42kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
10755436Coatc8Coat color QTL 80.02431coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)23502311780023117Rat
2293676Bmd19Bone mineral density QTL 1910.70.0001femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)243162366111362592Rat
1358894Kidm24Kidney mass QTL 244.03kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
1358904Cm39Cardiac mass QTL 392.26heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423157142209Rat
1358908Bw49Body weight QTL 493.36body mass (VT:0001259)body weight (CMO:0000012)225413652157142078Rat
10755434Coatc7Coat color QTL 70.04794coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)23064806575648065Rat
2293682Bmd24Bone mineral density QTL 248.90.0001femur mineral mass (VT:0010011)compact volumetric bone mineral density (CMO:0001730)243162366111362592Rat
731184Mamtr4Mammary tumor resistance QTL 40.0003mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)21649174061491740Rat
1358901Cm38Cardiac mass QTL 382heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423157142209Rat
1358917Cm42Cardiac mass QTL 422.82heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423203928301Rat
70174BpQTLCluster2Blood pressure QTL cluster 24.24arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)240067944102785628Rat
70174BpQTLCluster2Blood pressure QTL cluster 24.24arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)240067944102785628Rat
70174BpQTLCluster2Blood pressure QTL cluster 24.24arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)240067944102785628Rat
70174BpQTLCluster2Blood pressure QTL cluster 24.24arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)240067944102785628Rat
70174BpQTLCluster2Blood pressure QTL cluster 24.24arterial blood pressure trait (VT:2000000)absolute change in mean arterial blood pressure (CMO:0000533)240067944102785628Rat
2300168Bmd47Bone mineral density QTL 476.60.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)22066244865662448Rat
731167Glom4Glomerulus QTL 42.40.0082kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli not directly contacting the kidney surface (CMO:0001002)22030467265304672Rat
1358910Kidm27Kidney mass QTL 275.77kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
1358913Cm41Cardiac mass QTL 412.73heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423203928301Rat
1358887Bw50Body weight QTL 502.39body mass (VT:0001259)body weight (CMO:0000012)225413652157142078Rat

Markers in Region
D2Rat385  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2257,522,996 - 57,523,239 (+)MAPPERmRatBN7.2
Rnor_6.0257,633,081 - 57,633,323NCBIRnor6.0
Rnor_5.0279,117,766 - 79,118,008UniSTSRnor5.0
RGSC_v3.4258,035,189 - 58,035,432RGDRGSC3.4
RGSC_v3.4258,035,190 - 58,035,432UniSTSRGSC3.4
RGSC_v3.1257,963,354 - 57,963,967RGD
Celera253,136,745 - 53,136,987UniSTS
SHRSP x BN Map224.0998RGD
SHRSP x BN Map224.0998UniSTS
Cytogenetic Map2q16UniSTS
D2Got310  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2257,501,761 - 57,501,956 (+)MAPPERmRatBN7.2
Rnor_6.0257,611,846 - 57,612,040NCBIRnor6.0
Rnor_5.0279,096,531 - 79,096,725UniSTSRnor5.0
RGSC_v3.4258,013,952 - 58,014,150UniSTSRGSC3.4
Celera253,115,573 - 53,115,767UniSTS
Cytogenetic Map2q16UniSTS
RH143372  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2257,399,777 - 57,399,949 (+)MAPPERmRatBN7.2
Rnor_6.0257,508,854 - 57,509,025NCBIRnor6.0
Rnor_5.0278,993,539 - 78,993,710UniSTSRnor5.0
RGSC_v3.4257,909,641 - 57,909,812UniSTSRGSC3.4
Celera253,014,321 - 53,014,492UniSTS
Cytogenetic Map2q16UniSTS
AW532132  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2257,569,595 - 57,569,785 (+)MAPPERmRatBN7.2
Rnor_6.0257,679,821 - 57,680,010NCBIRnor6.0
Rnor_5.0279,164,506 - 79,164,695UniSTSRnor5.0
RGSC_v3.4258,081,596 - 58,081,785UniSTSRGSC3.4
Celera253,183,313 - 53,183,502UniSTS
Cytogenetic Map2q16UniSTS
BE117972  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2257,502,189 - 57,502,404 (+)MAPPERmRatBN7.2
Rnor_6.0257,612,274 - 57,612,488NCBIRnor6.0
Rnor_5.0279,096,959 - 79,097,173UniSTSRnor5.0
RGSC_v3.4258,014,384 - 58,014,598UniSTSRGSC3.4
Celera253,116,001 - 53,116,215UniSTS
RH 3.4 Map2331.7UniSTS
Cytogenetic Map2q16UniSTS
MARC_21845-21846:1025102921:1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2257,483,006 - 57,483,771 (+)MAPPERmRatBN7.2
Rnor_6.0257,593,094 - 57,593,858NCBIRnor6.0
Rnor_5.0279,077,779 - 79,078,543UniSTSRnor5.0
RGSC_v3.4257,995,199 - 57,995,963UniSTSRGSC3.4
Celera253,096,825 - 53,097,589UniSTS
Cytogenetic Map2q16UniSTS


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 appendage
High
Medium 3 40 53 37 19 37 8 8 74 35 41 11 8
Low 3 4 4 4 3
Below cutoff

Sequence


RefSeq Acc Id: ENSRNOT00000083247   ⟹   ENSRNOP00000071473
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl257,399,445 - 57,565,899 (-)Ensembl
Rnor_6.0 Ensembl257,509,428 - 57,600,820 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000097994   ⟹   ENSRNOP00000078828
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl257,399,760 - 57,565,899 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000110737   ⟹   ENSRNOP00000093925
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl257,399,445 - 57,489,347 (-)Ensembl
RefSeq Acc Id: NM_001427697   ⟹   NP_001414626
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8259,126,676 - 59,293,277 (-)NCBI
RefSeq Acc Id: NM_001427698   ⟹   NP_001414627
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8259,126,676 - 59,293,277 (-)NCBI
RefSeq Acc Id: XM_039103537   ⟹   XP_038959465
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8259,126,987 - 59,314,841 (-)NCBI
mRatBN7.2257,400,349 - 57,586,770 (-)NCBI
RefSeq Acc Id: XM_039103539   ⟹   XP_038959467
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8259,126,987 - 59,292,985 (-)NCBI
mRatBN7.2257,400,296 - 57,565,947 (-)NCBI
RefSeq Acc Id: XM_039103540   ⟹   XP_038959468
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8259,126,987 - 59,216,351 (-)NCBI
mRatBN7.2257,399,443 - 57,489,124 (-)NCBI
RefSeq Acc Id: XM_063281521   ⟹   XP_063137591
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8259,126,987 - 59,314,628 (-)NCBI
RefSeq Acc Id: XR_010063589
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8259,141,387 - 59,292,985 (-)NCBI
RefSeq Acc Id: ENSRNOP00000071473   ⟸   ENSRNOT00000083247
RefSeq Acc Id: XP_038959468   ⟸   XM_039103540
- Peptide Label: isoform X3
- UniProtKB: A0A8I6AXR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038959467   ⟸   XM_039103539
- Peptide Label: isoform X2
- UniProtKB: A0A8I5ZLR4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038959465   ⟸   XM_039103537
- Peptide Label: isoform X1
- UniProtKB: A0A8I6AXR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000078828   ⟸   ENSRNOT00000097994
RefSeq Acc Id: ENSRNOP00000093925   ⟸   ENSRNOT00000110737
RefSeq Acc Id: NP_001414626   ⟸   NM_001427697
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001414627   ⟸   NM_001427698
- Peptide Label: isoform 2
RefSeq Acc Id: XP_063137591   ⟸   XM_063281521
- Peptide Label: isoform X1
Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1306393 AgrOrtholog
BioCyc Gene G2FUF-54119 BioCyc
Ensembl Genes ENSRNOG00000056907 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000083247.2 UniProtKB/TrEMBL
  ENSRNOT00000097994.1 UniProtKB/TrEMBL
  ENSRNOT00000110737.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/TrEMBL
InterPro ARM-like UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/TrEMBL
  Cohesin_HEAT UniProtKB/TrEMBL
  Nipped-B_C UniProtKB/TrEMBL
  SCC2/Nipped-B UniProtKB/TrEMBL
NCBI Gene 294787 ENTREZGENE
PANTHER NIPPED-B-LIKE PROTEIN UniProtKB/TrEMBL
  PTHR21704 UniProtKB/TrEMBL
Pfam Cohesin_HEAT UniProtKB/TrEMBL
  Nipped-B_C UniProtKB/TrEMBL
PhenoGen Nipbl PhenoGen
RatGTEx ENSRNOG00000056907 RatGTEx
Superfamily-SCOP ARM-type_fold UniProtKB/TrEMBL
UniProt A0A0G2K0J4_RAT UniProtKB/TrEMBL
  A0A8I5ZLR4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6AXR8 ENTREZGENE, UniProtKB/TrEMBL
  A6KGI1_RAT UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-27 Nipbl  NIPBL, cohesin loading factor  Nipbl  Nipped-B homolog (Drosophila)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-05-24 Nipbl  Nipped-B homolog (Drosophila)  LOC681423  similar to delangin isoform A  Data merged from RGD:1595401 1643240 APPROVED
2010-01-27 Nipbl  Nipped-B homolog (Drosophila)  NIPBL  Nipped-B homolog (Drosophila)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-11-20 LOC681423  similar to delangin isoform A      Symbol and Name status set to provisional 70820 PROVISIONAL
2006-03-30 NIPBL  Nipped-B homolog (Drosophila)    delangin  Name updated 1299863 APPROVED
2005-12-06 NIPBL  delangin  NIPBL_predicted  delangin (predicted)  Symbol and Name updated 1559027 APPROVED
2005-01-12 NIPBL_predicted  delangin (predicted)      Symbol and Name status set to approved 70820 APPROVED