RTN4 (reticulon 4) - Rat Genome Database

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Gene: RTN4 (reticulon 4) Homo sapiens
Analyze
Symbol: RTN4
Name: reticulon 4
RGD ID: 730919
HGNC Page HGNC:14085
Description: Enables several functions, including cadherin binding activity; protein homodimerization activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cell adhesion involved in sprouting angiogenesis; endoplasmic reticulum tubular network organization; and positive regulation of signal transduction. Acts upstream of or within regulation of cell migration. Located in several cellular components, including cell junction; endoplasmic reticulum tubular network membrane; and nuclear envelope.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ASY; foocen; Human NogoA; My043 protein; Nbla00271; Nbla10545; neurite growth inhibitor 220; neurite outgrowth inhibitor; neuroendocrine-specific protein C homolog; NI220/250; NOGO; NOGO-A; Nogo-B; Nogo-C; NOGOC; NSP; NSP-CL; reticulon 5; reticulon-4; reticulon-5; RTN-X; RTN4-A; RTN4-B1; RTN4-B2; RTN4-C
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
GRCh38254,972,189 - 55,137,831 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl254,972,187 - 55,112,621 (-)EnsemblGRCh38hg38GRCh38
GRCh37255,199,325 - 55,364,967 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,052,829 - 55,131,238 (-)NCBINCBI36Build 36hg18NCBI36
Build 34255,110,979 - 55,187,977NCBI
Celera255,039,812 - 55,118,248 (-)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef254,934,258 - 55,012,692 (-)NCBIHuRef
CHM1_1255,129,380 - 55,207,793 (-)NCBICHM1_1
T2T-CHM13v2.0254,969,379 - 55,135,031 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clozapine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
genistein  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
maneb  (ISO)
manganese(II) chloride  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylmercury(1+)  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
nitrofen  (ISO)
olanzapine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phencyclidine  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
pyrogallol  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (NAS)
axonal fasciculation  (IEA,ISS)
blastocyst formation  (IEA,ISO)
brain development  (IBA,IEA)
cardiac epithelial to mesenchymal transition  (IEA,ISO)
cell adhesion involved in sprouting angiogenesis  (IDA)
cell migration involved in vasculogenesis  (ISS)
cellular response to hypoxia  (ISS)
central nervous system vasculogenesis  (ISS)
cerebral cortex radial glia-guided migration  (IEA,ISS)
endoplasmic reticulum organization  (IDA)
endoplasmic reticulum tubular network formation  (IBA,IDA,IEA)
endoplasmic reticulum tubular network membrane organization  (IMP)
endoplasmic reticulum tubular network organization  (IMP)
intracellular sphingolipid homeostasis  (IEA)
leukocyte migration involved in inflammatory response  (ISS)
modulation of chemical synaptic transmission  (IEA)
negative regulation of amyloid-beta formation  (IDA)
negative regulation of axon extension  (IDA,IEA)
negative regulation of axonogenesis  (ISO)
negative regulation of cell growth  (IMP)
negative regulation of neuron differentiation  (ISO)
negative regulation of neuron projection development  (ISO)
negative regulation of neuron projection regeneration  (ISO)
negative regulation of vasculogenesis  (ISS)
nervous system development  (IEA,ISO)
neuron differentiation  (IBA,IEA)
nuclear pore complex assembly  (IMP)
olfactory nerve development  (ISO)
oligodendrocyte differentiation  (ISO)
positive regulation of angiogenesis  (ISS)
positive regulation of artery morphogenesis  (ISS)
positive regulation of dopamine secretion  (ISO)
positive regulation of epithelial cell migration  (IMP)
positive regulation of ERBB3 signaling pathway  (IMP)
positive regulation of glial cell differentiation  (ISO)
positive regulation of hepatocyte proliferation  (ISS)
positive regulation of macrophage cytokine production  (ISS)
positive regulation of macrophage migration  (ISS)
positive regulation of mammary gland epithelial cell proliferation  (IMP)
positive regulation of neutrophil migration  (ISS)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP)
positive regulation of protein localization to endoplasmic reticulum  (IDA)
positive regulation of Rac protein signal transduction  (ISS)
positive regulation of toll-like receptor 9 signaling pathway  (IEA,ISS)
protein localization to lysosome  (IEA,ISS)
protein stabilization  (IEA,IMP)
regulation of apoptotic process  (NAS)
regulation of branching morphogenesis of a nerve  (IEA,ISS)
regulation of cell migration  (IDA)
regulation of nervous system development  (IEA)
regulation of postsynapse assembly  (ISO)
response to activity  (ISO)

Molecular Function

References

References - curated
# 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
3. Hippocampal Nogo-A and neo-Timm's staining in amygdala kindling rats. Takeda Y, etal., Neurol Res. 2007 Mar;29(2):199-203.
Additional References at PubMed
PMID:10048485   PMID:10667780   PMID:10667796   PMID:10667797   PMID:10773680   PMID:11042152   PMID:11076863   PMID:11126360   PMID:11201742   PMID:11358445   PMID:11866689   PMID:11891768  
PMID:12037567   PMID:12067236   PMID:12089450   PMID:12270696   PMID:12377379   PMID:12425946   PMID:12426574   PMID:12477932   PMID:12488097   PMID:12510146   PMID:12618765   PMID:12692556  
PMID:12811824   PMID:12951563   PMID:14592966   PMID:14644040   PMID:14702039   PMID:14741411   PMID:15034570   PMID:15146197   PMID:15147731   PMID:15234466   PMID:15245492   PMID:15286784  
PMID:15345747   PMID:15489334   PMID:15489336   PMID:15498874   PMID:15661375   PMID:15694321   PMID:15749087   PMID:15820318   PMID:15953657   PMID:16095439   PMID:16169070   PMID:16189514  
PMID:16344560   PMID:16381901   PMID:16629624   PMID:16646068   PMID:16752908   PMID:16772867   PMID:16791210   PMID:16835300   PMID:16905119   PMID:16965550   PMID:16979658   PMID:17022955  
PMID:17029193   PMID:17081983   PMID:17191123   PMID:17242333   PMID:17335080   PMID:17353931   PMID:17437522   PMID:17455292   PMID:17474147   PMID:17592524   PMID:17626519   PMID:17645629  
PMID:17764014   PMID:17971502   PMID:18080785   PMID:18234903   PMID:18337405   PMID:18495952   PMID:18583979   PMID:18685489   PMID:18779370   PMID:18948092   PMID:19035836   PMID:19054571  
PMID:19165527   PMID:19336839   PMID:19405102   PMID:19508346   PMID:19553259   PMID:19587271   PMID:19654939   PMID:19665976   PMID:19889996   PMID:20018888   PMID:20379614   PMID:20463223  
PMID:20487307   PMID:20599731   PMID:20717916   PMID:20938157   PMID:20971739   PMID:20975041   PMID:21044950   PMID:21111015   PMID:21166502   PMID:21183689   PMID:21237226   PMID:21251247  
PMID:21454605   PMID:21503119   PMID:21516116   PMID:21697531   PMID:21835431   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22119785   PMID:22133682   PMID:22190034   PMID:22304920  
PMID:22313113   PMID:22320844   PMID:22658674   PMID:22810586   PMID:22939629   PMID:23042479   PMID:23142642   PMID:23146900   PMID:23313137   PMID:23376485   PMID:23479081   PMID:23874603  
PMID:23982337   PMID:24129566   PMID:24262037   PMID:24278366   PMID:24332808   PMID:24372562   PMID:24401759   PMID:24623722   PMID:24626842   PMID:24966913   PMID:25040983   PMID:25075030  
PMID:25147182   PMID:25331889   PMID:25416956   PMID:25468996   PMID:25612671   PMID:25737280   PMID:25796446   PMID:25847052   PMID:25907690   PMID:25921289   PMID:26186194   PMID:26272612  
PMID:26344197   PMID:26348872   PMID:26472601   PMID:26496610   PMID:26638075   PMID:26656426   PMID:26826187   PMID:26906412   PMID:26972000   PMID:27107014   PMID:27342126   PMID:27353365  
PMID:27354599   PMID:27619977   PMID:27684187   PMID:27786289   PMID:28144881   PMID:28298427   PMID:28330616   PMID:28408340   PMID:28514442   PMID:28628795   PMID:28675297   PMID:28687970  
PMID:28883622   PMID:29117863   PMID:29180619   PMID:29412690   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29684585   PMID:29892012   PMID:30019429   PMID:30021884   PMID:30078441  
PMID:30442662   PMID:30480803   PMID:30575818   PMID:30652415   PMID:30809309   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31062076   PMID:31073040   PMID:31092426   PMID:31177093  
PMID:31249451   PMID:31358770   PMID:31469817   PMID:31515488   PMID:31536960   PMID:31622291   PMID:31654717   PMID:31732153   PMID:31748413   PMID:31764777   PMID:31871319   PMID:31980649  
PMID:31985874   PMID:32296183   PMID:32353859   PMID:32460013   PMID:32513696   PMID:32687490   PMID:32707033   PMID:32788342   PMID:32807901   PMID:32812023   PMID:32877691   PMID:32994395  
PMID:33060197   PMID:33144569   PMID:33397691   PMID:33517425   PMID:33545068   PMID:33721786   PMID:33742100   PMID:33845483   PMID:33916271   PMID:33924890   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34432599   PMID:34709727   PMID:34732716   PMID:34758294   PMID:34795231   PMID:34824275   PMID:34943877   PMID:34983537   PMID:34998825   PMID:35007762   PMID:35022314  
PMID:35063084   PMID:35075114   PMID:35124280   PMID:35241646   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35562734   PMID:35681168   PMID:35696571   PMID:35698271  
PMID:35771867   PMID:35831314   PMID:35944360   PMID:36042349   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36225252   PMID:36232890   PMID:36323241   PMID:36604567   PMID:36634849  
PMID:36688959   PMID:36774506   PMID:36901909   PMID:37224043   PMID:37232246   PMID:37318453   PMID:37689310   PMID:37774976   PMID:37827155   PMID:37931956  


Genomics

Comparative Map Data
RTN4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38254,972,189 - 55,137,831 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl254,972,187 - 55,112,621 (-)EnsemblGRCh38hg38GRCh38
GRCh37255,199,325 - 55,364,967 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,052,829 - 55,131,238 (-)NCBINCBI36Build 36hg18NCBI36
Build 34255,110,979 - 55,187,977NCBI
Celera255,039,812 - 55,118,248 (-)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef254,934,258 - 55,012,692 (-)NCBIHuRef
CHM1_1255,129,380 - 55,207,793 (-)NCBICHM1_1
T2T-CHM13v2.0254,969,379 - 55,135,031 (-)NCBIT2T-CHM13v2.0
Rtn4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391129,642,898 - 29,694,414 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1129,642,947 - 29,694,331 (+)EnsemblGRCm39 Ensembl
GRCm381129,692,898 - 29,744,414 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1129,692,947 - 29,744,331 (+)EnsemblGRCm38mm10GRCm38
MGSCv371129,592,898 - 29,644,414 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361129,592,947 - 29,642,916 (+)NCBIMGSCv36mm8
Celera1132,055,366 - 32,110,540 (+)NCBICelera
Cytogenetic Map11A3.3NCBI
cM Map1116.79NCBI
Rtn4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr814107,651,001 - 107,698,610 (+)NCBIGRCr8
mRatBN7.214103,450,074 - 103,497,687 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl14103,449,930 - 103,497,686 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx14107,788,449 - 107,835,806 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.014109,022,006 - 109,069,463 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014105,494,428 - 105,541,884 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.014114,126,931 - 114,174,459 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14114,126,943 - 114,174,458 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.014113,792,257 - 113,839,936 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414110,725,089 - 110,772,578 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.114110,751,435 - 110,798,925 (+)NCBI
Celera14102,325,054 - 102,372,199 (+)NCBICelera
Cytogenetic Map14q22NCBI
Rtn4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542428,061,346 - 28,125,838 (+)NCBIChiLan1.0ChiLan1.0
RTN4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21271,272,917 - 71,354,172 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A71,277,237 - 71,358,124 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A55,129,272 - 55,207,031 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A56,271,214 - 56,348,117 (-)NCBIpanpan1.1PanPan1.1panPan2
RTN4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11055,884,452 - 55,954,476 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1055,885,125 - 55,936,574 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1055,839,508 - 55,910,109 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01056,886,721 - 56,957,194 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1056,886,724 - 56,957,662 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11056,588,329 - 56,658,758 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01056,866,767 - 56,937,240 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01057,157,709 - 57,228,145 (-)NCBIUU_Cfam_GSD_1.0
Rtn4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629227,097,303 - 27,163,878 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364911,407,414 - 1,474,360 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364911,407,414 - 1,474,031 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RTN4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl386,180,022 - 86,252,126 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1386,180,022 - 86,252,126 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2391,013,117 - 91,202,777 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RTN4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11451,876,697 - 51,955,788 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604559,766,791 - 59,846,774 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rtn4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248336,514,409 - 6,584,061 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RTN4
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
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 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3 copy number gain See cases [RCV000446524] Chr2:54234790..57365499 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)x3 copy number gain See cases [RCV000448299] Chr2:54555290..55741543 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
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
NM_020532.5(RTN4):c.3566G>A (p.Arg1189His) single nucleotide variant Inborn genetic diseases [RCV003279726] Chr2:54973169 [GRCh38]
Chr2:55200305 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3305C>T (p.Thr1102Met) single nucleotide variant Inborn genetic diseases [RCV003279733] Chr2:54982570 [GRCh38]
Chr2:55209706 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1268A>T (p.Lys423Ile) single nucleotide variant Inborn genetic diseases [RCV003282026] Chr2:55026831 [GRCh38]
Chr2:55253967 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3415A>C (p.Thr1139Pro) single nucleotide variant Inborn genetic diseases [RCV003284917] Chr2:54974710 [GRCh38]
Chr2:55201846 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.144C>A (p.Asp48Glu) single nucleotide variant Inborn genetic diseases [RCV003295935] Chr2:55050157 [GRCh38]
Chr2:55277293 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p16.2-16.1(chr2:54079222-55328518)x3 copy number gain not provided [RCV000682124] Chr2:54079222..55328518 [GRCh37]
Chr2:2p16.2-16.1
likely benign
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely 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
NM_020532.5(RTN4):c.2821A>C (p.Asn941His) single nucleotide variant not provided [RCV000922971] Chr2:55025278 [GRCh38]
Chr2:55252414 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.1319G>A (p.Ser440Asn) single nucleotide variant not provided [RCV000883638] Chr2:55026780 [GRCh38]
Chr2:55253916 [GRCh37]
Chr2:2p16.1
benign
NM_020532.5(RTN4):c.1858T>C (p.Leu620=) single nucleotide variant not provided [RCV000881043] Chr2:55026241 [GRCh38]
Chr2:55253377 [GRCh37]
Chr2:2p16.1
benign
NM_020532.5(RTN4):c.3209G>C (p.Gly1070Ala) single nucleotide variant not provided [RCV000954381] Chr2:54987503 [GRCh38]
Chr2:55214639 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.382G>T (p.Val128Phe) single nucleotide variant Inborn genetic diseases [RCV003268509] Chr2:55049919 [GRCh38]
Chr2:55277055 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.392C>T (p.Ser131Phe) single nucleotide variant Inborn genetic diseases [RCV003292905] Chr2:55049909 [GRCh38]
Chr2:55277045 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_54278075)_(55549848_?)dup duplication not provided [RCV003105495] Chr2:54278075..55549848 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
NM_020532.5(RTN4):c.1369C>T (p.Arg457Cys) single nucleotide variant Inborn genetic diseases [RCV003241726] Chr2:55026730 [GRCh38]
Chr2:55253866 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3302G>A (p.Cys1101Tyr) single nucleotide variant Inborn genetic diseases [RCV003241743] Chr2:54982573 [GRCh38]
Chr2:55209709 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2881C>G (p.Gln961Glu) single nucleotide variant not provided [RCV000922970] Chr2:55025218 [GRCh38]
Chr2:55252354 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.2976A>G (p.Pro992=) single nucleotide variant not provided [RCV000974910] Chr2:55025123 [GRCh38]
Chr2:55252259 [GRCh37]
Chr2:2p16.1
benign
NM_020532.5(RTN4):c.1349C>T (p.Thr450Met) single nucleotide variant not provided [RCV000973305] Chr2:55026750 [GRCh38]
Chr2:55253886 [GRCh37]
Chr2:2p16.1
benign
NM_020532.5(RTN4):c.2440C>A (p.Leu814Met) single nucleotide variant not provided [RCV000954878] Chr2:55025659 [GRCh38]
Chr2:55252795 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.2759C>G (p.Ser920Cys) single nucleotide variant not provided [RCV000955924] Chr2:55025340 [GRCh38]
Chr2:55252476 [GRCh37]
Chr2:2p16.1
benign
NM_020532.5(RTN4):c.2695G>C (p.Glu899Gln) single nucleotide variant not provided [RCV000955925] Chr2:55025404 [GRCh38]
Chr2:55252540 [GRCh37]
Chr2:2p16.1
benign
NM_020532.5(RTN4):c.2562A>G (p.Arg854=) single nucleotide variant not provided [RCV000889887] Chr2:55025537 [GRCh38]
Chr2:55252673 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.255C>G (p.Phe85Leu) single nucleotide variant Inborn genetic diseases [RCV003253620] Chr2:55050046 [GRCh38]
Chr2:55277182 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.12:g.55141241C>T single nucleotide variant not provided [RCV001355415] Chr2:55141241 [GRCh38]
Chr2:55368377 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543) copy number gain not specified [RCV002052748] Chr2:54555290..55741543 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p16.2-16.1(chr2:54718060-55215908)x3 copy number gain not provided [RCV001834418] Chr2:54718060..55215908 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
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
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3 copy number gain not provided [RCV002472401] Chr2:54780778..55935168 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
NM_020532.5(RTN4):c.3530T>C (p.Met1177Thr) single nucleotide variant Inborn genetic diseases [RCV002689353] Chr2:54973569 [GRCh38]
Chr2:55200705 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.542C>T (p.Ser181Phe) single nucleotide variant Inborn genetic diseases [RCV002779887] Chr2:55049759 [GRCh38]
Chr2:55276895 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1170T>G (p.Phe390Leu) single nucleotide variant Inborn genetic diseases [RCV002864762] Chr2:55026929 [GRCh38]
Chr2:55254065 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.422C>G (p.Ala141Gly) single nucleotide variant Inborn genetic diseases [RCV002750039] Chr2:55049879 [GRCh38]
Chr2:55277015 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.396G>C (p.Lys132Asn) single nucleotide variant Inborn genetic diseases [RCV002884766] Chr2:55049905 [GRCh38]
Chr2:55277041 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1517C>T (p.Thr506Ile) single nucleotide variant Inborn genetic diseases [RCV002799630] Chr2:55026582 [GRCh38]
Chr2:55253718 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1885G>T (p.Ala629Ser) single nucleotide variant Inborn genetic diseases [RCV002950062] Chr2:55026214 [GRCh38]
Chr2:55253350 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2437A>G (p.Thr813Ala) single nucleotide variant Inborn genetic diseases [RCV002822556] Chr2:55025662 [GRCh38]
Chr2:55252798 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1076T>C (p.Val359Ala) single nucleotide variant Inborn genetic diseases [RCV002661420] Chr2:55027023 [GRCh38]
Chr2:55254159 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.333C>G (p.Ser111Arg) single nucleotide variant Inborn genetic diseases [RCV002738869] Chr2:55049968 [GRCh38]
Chr2:55277104 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.608C>G (p.Ser203Cys) single nucleotide variant Inborn genetic diseases [RCV002764685] Chr2:55028169 [GRCh38]
Chr2:55255305 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3229C>G (p.Leu1077Val) single nucleotide variant Inborn genetic diseases [RCV002645354] Chr2:54982646 [GRCh38]
Chr2:55209782 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3389A>G (p.Tyr1130Cys) single nucleotide variant Inborn genetic diseases [RCV002984158] Chr2:54974736 [GRCh38]
Chr2:55201872 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2425A>G (p.Asn809Asp) single nucleotide variant Inborn genetic diseases [RCV002929701] Chr2:55025674 [GRCh38]
Chr2:55252810 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1382A>G (p.Tyr461Cys) single nucleotide variant Inborn genetic diseases [RCV002802445] Chr2:55026717 [GRCh38]
Chr2:55253853 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.419C>T (p.Pro140Leu) single nucleotide variant Inborn genetic diseases [RCV002697796] Chr2:55049882 [GRCh38]
Chr2:55277018 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2726C>T (p.Ser909Leu) single nucleotide variant Inborn genetic diseases [RCV003004020] Chr2:55025373 [GRCh38]
Chr2:55252509 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2081A>G (p.Tyr694Cys) single nucleotide variant Inborn genetic diseases [RCV002930088] Chr2:55026018 [GRCh38]
Chr2:55253154 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.214C>T (p.Pro72Ser) single nucleotide variant Inborn genetic diseases [RCV002826532] Chr2:55050087 [GRCh38]
Chr2:55277223 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.329C>G (p.Pro110Arg) single nucleotide variant Inborn genetic diseases [RCV002965461] Chr2:55049972 [GRCh38]
Chr2:55277108 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3247A>G (p.Ile1083Val) single nucleotide variant Inborn genetic diseases [RCV002702791] Chr2:54982628 [GRCh38]
Chr2:55209764 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1247T>G (p.Leu416Trp) single nucleotide variant Inborn genetic diseases [RCV002809811] Chr2:55026852 [GRCh38]
Chr2:55253988 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.235A>T (p.Met79Leu) single nucleotide variant Inborn genetic diseases [RCV002809812] Chr2:55050066 [GRCh38]
Chr2:55277202 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.2941C>T (p.Leu981Phe) single nucleotide variant Inborn genetic diseases [RCV002965601] Chr2:55025158 [GRCh38]
Chr2:55252294 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3470G>A (p.Arg1157Gln) single nucleotide variant Inborn genetic diseases [RCV002717726] Chr2:54973828 [GRCh38]
Chr2:55200964 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2804C>T (p.Ser935Leu) single nucleotide variant Inborn genetic diseases [RCV002724394] Chr2:55025295 [GRCh38]
Chr2:55252431 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1159T>A (p.Phe387Ile) single nucleotide variant Inborn genetic diseases [RCV003278072] Chr2:55026940 [GRCh38]
Chr2:55254076 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1537A>G (p.Lys513Glu) single nucleotide variant Inborn genetic diseases [RCV003254809] Chr2:55026562 [GRCh38]
Chr2:55253698 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.268C>T (p.Pro90Ser) single nucleotide variant Inborn genetic diseases [RCV003254860] Chr2:55050033 [GRCh38]
Chr2:55277169 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1883G>A (p.Gly628Asp) single nucleotide variant Inborn genetic diseases [RCV003215529] Chr2:55026216 [GRCh38]
Chr2:55253352 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2059C>G (p.Leu687Val) single nucleotide variant Inborn genetic diseases [RCV003220542] Chr2:55026040 [GRCh38]
Chr2:55253176 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.2834C>T (p.Thr945Ile) single nucleotide variant Inborn genetic diseases [RCV003173602] Chr2:55025265 [GRCh38]
Chr2:55252401 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.2074G>C (p.Ala692Pro) single nucleotide variant Inborn genetic diseases [RCV003186635] Chr2:55026025 [GRCh38]
Chr2:55253161 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3565C>T (p.Arg1189Cys) single nucleotide variant Inborn genetic diseases [RCV003261315] Chr2:54973170 [GRCh38]
Chr2:55200306 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1193A>G (p.Asp398Gly) single nucleotide variant Inborn genetic diseases [RCV003304324] Chr2:55026906 [GRCh38]
Chr2:55254042 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3433C>T (p.Leu1145Phe) single nucleotide variant Inborn genetic diseases [RCV003196244] Chr2:54973865 [GRCh38]
Chr2:55201001 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.3286C>T (p.Leu1096Phe) single nucleotide variant Inborn genetic diseases [RCV003265566] Chr2:54982589 [GRCh38]
Chr2:55209725 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2933A>G (p.Glu978Gly) single nucleotide variant Inborn genetic diseases [RCV003379313] Chr2:55025166 [GRCh38]
Chr2:55252302 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.416C>T (p.Pro139Leu) single nucleotide variant Inborn genetic diseases [RCV003347788] Chr2:55049885 [GRCh38]
Chr2:55277021 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.272G>A (p.Arg91Gln) single nucleotide variant Inborn genetic diseases [RCV003368707] Chr2:55050029 [GRCh38]
Chr2:55277165 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1429A>G (p.Thr477Ala) single nucleotide variant Inborn genetic diseases [RCV003363570] Chr2:55026670 [GRCh38]
Chr2:55253806 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.2674C>A (p.Leu892Ile) single nucleotide variant Inborn genetic diseases [RCV003385316] Chr2:55025425 [GRCh38]
Chr2:55252561 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.856G>C (p.Asp286His) single nucleotide variant Inborn genetic diseases [RCV003362601] Chr2:55027243 [GRCh38]
Chr2:55254379 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.55C>T (p.Pro19Ser) single nucleotide variant Inborn genetic diseases [RCV003363971] Chr2:55050246 [GRCh38]
Chr2:55277382 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.527C>A (p.Pro176His) single nucleotide variant Inborn genetic diseases [RCV003371373] Chr2:55049774 [GRCh38]
Chr2:55276910 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_020532.5(RTN4):c.1626C>T (p.Val542=) single nucleotide variant not provided [RCV003407233] Chr2:55026473 [GRCh38]
Chr2:55253609 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.228G>A (p.Ala76=) single nucleotide variant not provided [RCV003407234] Chr2:55050073 [GRCh38]
Chr2:55277209 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.381A>T (p.Ala127=) single nucleotide variant not provided [RCV003415580] Chr2:55049920 [GRCh38]
Chr2:55277056 [GRCh37]
Chr2:2p16.1
likely benign
NM_020532.5(RTN4):c.485C>G (p.Pro162Arg) single nucleotide variant Inborn genetic diseases [RCV003361131] Chr2:55049816 [GRCh38]
Chr2:55276952 [GRCh37]
Chr2:2p16.1
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR183hsa-miR-183-5pTarbaseexternal_infoSequencingPOSITIVE
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assay//Quantitative proteomic Functional MTI19253296

Predicted Target Of
Summary Value
Count of predictions:4062
Count of miRNA genes:747
Interacting mature miRNAs:867
Transcripts:ENST00000317610, ENST00000337526, ENST00000354474, ENST00000357376, ENST00000357732, ENST00000394609, ENST00000394611, ENST00000402434, ENST00000404909, ENST00000405240, ENST00000427710, ENST00000438462, ENST00000461004, ENST00000485749, ENST00000486085, ENST00000491592
Prediction methods:Microtar, 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.

Markers in Region
SHGC-5636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,199,975 - 55,200,044UniSTSGRCh37
Build 36255,053,479 - 55,053,548RGDNCBI36
Celera255,040,465 - 55,040,534RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,934,911 - 54,934,980UniSTS
GeneMap99-G3 RH Map22229.0UniSTS
D2S1848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,198,839 - 55,199,101UniSTSGRCh37
Build 36255,052,343 - 55,052,605RGDNCBI36
Celera255,039,326 - 55,039,588RGD
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2p16.3UniSTS
HuRef254,933,772 - 54,934,034UniSTS
GeneMap99-GB4 RH Map2173.92UniSTS
Whitehead-RH Map2231.4UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH80159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,235,487 - 55,235,669UniSTSGRCh37
Build 36255,088,991 - 55,089,173RGDNCBI36
Celera255,076,005 - 55,076,187RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,970,450 - 54,970,632UniSTS
GeneMap99-GB4 RH Map2173.92UniSTS
RH103665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,204,628 - 55,204,769UniSTSGRCh37
Build 36255,058,132 - 55,058,273RGDNCBI36
Celera255,045,115 - 55,045,256RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,939,560 - 54,939,701UniSTS
GeneMap99-GB4 RH Map2173.02UniSTS
D2S1521E  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera255,040,439 - 55,040,541RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,934,885 - 54,934,987UniSTS
A002P20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,199,522 - 55,199,630UniSTSGRCh37
Build 36255,053,026 - 55,053,134RGDNCBI36
Celera255,040,009 - 55,040,120RGD
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2p16.3UniSTS
HuRef254,934,455 - 54,934,566UniSTS
GeneMap99-GB4 RH Map2174.12UniSTS
A009M26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,014,973 - 97,016,156UniSTSGRCh37
GRCh37255,209,263 - 55,209,411UniSTSGRCh37
Build 36255,062,767 - 55,062,915RGDNCBI36
Celera791,709,671 - 91,710,854UniSTS
Celera255,049,776 - 55,049,924RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,944,222 - 54,944,370UniSTS
HuRef981,039,194 - 81,040,168UniSTS
CRA_TCAGchr7v2796,337,479 - 96,338,662UniSTS
GeneMap99-GB4 RH Map2171.98UniSTS
RH11556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,200,103 - 55,200,239UniSTSGRCh37
Build 36255,053,607 - 55,053,743RGDNCBI36
Celera255,040,589 - 55,040,725RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,935,035 - 54,935,171UniSTS
GeneMap99-GB4 RH Map2162.78UniSTS
RH36073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,198,866 - 55,198,999UniSTSGRCh37
Build 36255,052,370 - 55,052,503RGDNCBI36
Celera255,039,353 - 55,039,486RGD
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2p16.3UniSTS
HuRef254,933,799 - 54,933,932UniSTS
GeneMap99-GB4 RH Map2171.98UniSTS
AB049853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,199,365 - 55,199,507UniSTSGRCh37
Build 36255,052,869 - 55,053,011RGDNCBI36
Celera255,039,852 - 55,039,994RGD
HuRef254,934,298 - 54,934,440UniSTS
SGC32447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,253,755 - 55,253,904UniSTSGRCh37
Build 36255,107,259 - 55,107,408RGDNCBI36
Celera255,094,273 - 55,094,422RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,988,718 - 54,988,867UniSTS
GeneMap99-GB4 RH Map2171.98UniSTS
Whitehead-RH Map2231.4UniSTS
NCBI RH Map2329.2UniSTS
D2S1981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,199,949 - 55,200,127UniSTSGRCh37
Build 36255,053,453 - 55,053,631RGDNCBI36
Celera255,040,439 - 55,040,613RGD
Cytogenetic Map2p16.3UniSTS
HuRef254,934,885 - 54,935,059UniSTS
GeneMap99-GB4 RH Map2174.26UniSTS
Whitehead-RH Map2231.5UniSTS
Whitehead-YAC Contig Map2 UniSTS
G32670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,209,263 - 55,209,411UniSTSGRCh37
Celera255,049,776 - 55,049,924UniSTS
Cytogenetic Map2p16.3UniSTS
HuRef254,944,222 - 54,944,370UniSTS


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 1
Medium 2432 2821 1717 617 1881 459 4355 2097 3719 416 1449 1606 171 1204 2788 4
Low 7 170 9 7 70 6 2 100 15 3 10 7 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB015639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB073351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB073359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF063601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF320999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF333336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI671568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY102276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY102277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY102278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY102279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY102285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY123245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY123246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY123247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY123248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY123249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY123250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN429712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ829486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS061793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB094021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ778739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HA642584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC469555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI649219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000317610   ⟹   ENSP00000322147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,189 - 55,050,544 (-)Ensembl
RefSeq Acc Id: ENST00000337526   ⟹   ENSP00000337838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,189 - 55,050,451 (-)Ensembl
RefSeq Acc Id: ENST00000357376   ⟹   ENSP00000349944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,189 - 55,049,198 (-)Ensembl
RefSeq Acc Id: ENST00000357732   ⟹   ENSP00000350365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,189 - 55,050,544 (-)Ensembl
RefSeq Acc Id: ENST00000394609   ⟹   ENSP00000378107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,187 - 55,010,449 (-)Ensembl
RefSeq Acc Id: ENST00000394611   ⟹   ENSP00000378109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,189 - 55,050,598 (-)Ensembl
RefSeq Acc Id: ENST00000402434   ⟹   ENSP00000384825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,814 - 55,050,376 (-)Ensembl
RefSeq Acc Id: ENST00000404909   ⟹   ENSP00000385650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,189 - 55,050,828 (-)Ensembl
RefSeq Acc Id: ENST00000405240   ⟹   ENSP00000384471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,189 - 55,046,886 (-)Ensembl
RefSeq Acc Id: ENST00000427710   ⟹   ENSP00000411628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,027,207 - 55,112,621 (-)Ensembl
RefSeq Acc Id: ENST00000438462   ⟹   ENSP00000397808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,973,513 - 55,049,640 (-)Ensembl
RefSeq Acc Id: ENST00000461004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,056,483 - 55,112,567 (-)Ensembl
RefSeq Acc Id: ENST00000485749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,797 - 54,974,191 (-)Ensembl
RefSeq Acc Id: ENST00000486085   ⟹   ENSP00000489133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,585 - 54,987,633 (-)Ensembl
RefSeq Acc Id: ENST00000491592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl254,972,796 - 54,974,019 (-)Ensembl
RefSeq Acc Id: NM_001321859   ⟹   NP_001308788
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,051,272 (-)NCBI
CHM1_1255,129,380 - 55,208,012 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,048,487 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321860   ⟹   NP_001308789
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,050,598 (-)NCBI
CHM1_1255,129,380 - 55,207,793 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,047,812 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321861   ⟹   NP_001308790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,049,691 (-)NCBI
CHM1_1255,129,380 - 55,206,886 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,046,905 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321862   ⟹   NP_001308791
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,048,666 (-)NCBI
CHM1_1255,129,380 - 55,205,861 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,045,880 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321863   ⟹   NP_001308792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,047,326 (-)NCBI
CHM1_1255,129,380 - 55,204,084 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,044,541 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321904   ⟹   NP_001308833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,137,831 (-)NCBI
CHM1_1255,129,380 - 55,295,030 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,135,031 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007008   ⟹   NP_008939
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,010,272 (-)NCBI
GRCh37255,199,325 - 55,307,770 (-)NCBI
Build 36255,052,829 - 55,090,974 (-)NCBI Archive
HuRef254,934,258 - 55,012,692 (-)ENTREZGENE
CHM1_1255,129,380 - 55,167,531 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,007,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020532   ⟹   NP_065393
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,050,451 (-)NCBI
GRCh37255,199,325 - 55,307,770 (-)NCBI
Build 36255,052,829 - 55,131,238 (-)NCBI Archive
HuRef254,934,258 - 55,012,692 (-)ENTREZGENE
CHM1_1255,129,380 - 55,207,793 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,047,665 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153828   ⟹   NP_722550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,050,451 (-)NCBI
GRCh37255,199,325 - 55,307,770 (-)NCBI
Build 36255,052,829 - 55,131,238 (-)NCBI Archive
HuRef254,934,258 - 55,012,692 (-)ENTREZGENE
CHM1_1255,129,380 - 55,207,793 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,047,665 (-)NCBI
Sequence:
RefSeq Acc Id: NM_207520   ⟹   NP_997403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,050,451 (-)NCBI
GRCh37255,199,325 - 55,307,770 (-)NCBI
Build 36255,052,829 - 55,131,238 (-)NCBI Archive
HuRef254,934,258 - 55,012,692 (-)ENTREZGENE
CHM1_1255,129,380 - 55,207,793 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,047,665 (-)NCBI
Sequence:
RefSeq Acc Id: NM_207521   ⟹   NP_997404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,049,156 (-)NCBI
GRCh37255,199,325 - 55,307,770 (-)NCBI
Build 36255,052,829 - 55,129,830 (-)NCBI Archive
HuRef254,934,258 - 55,012,692 (-)ENTREZGENE
CHM1_1255,129,380 - 55,206,385 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,046,370 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135829
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,049,691 (-)NCBI
CHM1_1255,129,380 - 55,206,886 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,046,905 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135830
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38254,972,189 - 55,049,156 (-)NCBI
CHM1_1255,129,380 - 55,206,385 (-)NCBI
T2T-CHM13v2.0254,969,379 - 55,046,370 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001308788 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308789 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308790 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308791 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308792 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308833 (Get FASTA)   NCBI Sequence Viewer  
  NP_008939 (Get FASTA)   NCBI Sequence Viewer  
  NP_065393 (Get FASTA)   NCBI Sequence Viewer  
  NP_722550 (Get FASTA)   NCBI Sequence Viewer  
  NP_997403 (Get FASTA)   NCBI Sequence Viewer  
  NP_997404 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD27783 (Get FASTA)   NCBI Sequence Viewer  
  AAD31021 (Get FASTA)   NCBI Sequence Viewer  
  AAD31022 (Get FASTA)   NCBI Sequence Viewer  
  AAD39920 (Get FASTA)   NCBI Sequence Viewer  
  AAG12176 (Get FASTA)   NCBI Sequence Viewer  
  AAG12177 (Get FASTA)   NCBI Sequence Viewer  
  AAG12205 (Get FASTA)   NCBI Sequence Viewer  
  AAG17976 (Get FASTA)   NCBI Sequence Viewer  
  AAG40878 (Get FASTA)   NCBI Sequence Viewer  
  AAG43160 (Get FASTA)   NCBI Sequence Viewer  
  AAH01035 (Get FASTA)   NCBI Sequence Viewer  
  AAH07109 (Get FASTA)   NCBI Sequence Viewer  
  AAH10737 (Get FASTA)   NCBI Sequence Viewer  
  AAH12619 (Get FASTA)   NCBI Sequence Viewer  
  AAH14366 (Get FASTA)   NCBI Sequence Viewer  
  AAH16165 (Get FASTA)   NCBI Sequence Viewer  
  AAH26788 (Get FASTA)   NCBI Sequence Viewer  
  AAH68991 (Get FASTA)   NCBI Sequence Viewer  
  AAH71848 (Get FASTA)   NCBI Sequence Viewer  
  AAI50183 (Get FASTA)   NCBI Sequence Viewer  
  AAI52426 (Get FASTA)   NCBI Sequence Viewer  
  AAI52556 (Get FASTA)   NCBI Sequence Viewer  
  AAK20831 (Get FASTA)   NCBI Sequence Viewer  
  AAM64240 (Get FASTA)   NCBI Sequence Viewer  
  AAM64241 (Get FASTA)   NCBI Sequence Viewer  
  AAM64242 (Get FASTA)   NCBI Sequence Viewer  
  AAM64243 (Get FASTA)   NCBI Sequence Viewer  
  AAM64244 (Get FASTA)   NCBI Sequence Viewer  
  AAM64245 (Get FASTA)   NCBI Sequence Viewer  
  AAM64246 (Get FASTA)   NCBI Sequence Viewer  
  AAM64247 (Get FASTA)   NCBI Sequence Viewer  
  AAM64248 (Get FASTA)   NCBI Sequence Viewer  
  AAM64249 (Get FASTA)   NCBI Sequence Viewer  
  AAM64250 (Get FASTA)   NCBI Sequence Viewer  
  AAM64251 (Get FASTA)   NCBI Sequence Viewer  
  AAM64252 (Get FASTA)   NCBI Sequence Viewer  
  AAM64253 (Get FASTA)   NCBI Sequence Viewer  
  AAM64254 (Get FASTA)   NCBI Sequence Viewer  
  AAX93116 (Get FASTA)   NCBI Sequence Viewer  
  AAY24029 (Get FASTA)   NCBI Sequence Viewer  
  AAY24239 (Get FASTA)   NCBI Sequence Viewer  
  ABG76010 (Get FASTA)   NCBI Sequence Viewer  
  BAA74909 (Get FASTA)   NCBI Sequence Viewer  
  BAA83712 (Get FASTA)   NCBI Sequence Viewer  
  BAB18927 (Get FASTA)   NCBI Sequence Viewer  
  BAB18928 (Get FASTA)   NCBI Sequence Viewer  
  BAE45714 (Get FASTA)   NCBI Sequence Viewer  
  BAE45717 (Get FASTA)   NCBI Sequence Viewer  
  BAG63956 (Get FASTA)   NCBI Sequence Viewer  
  CAB99248 (Get FASTA)   NCBI Sequence Viewer  
  CAB99249 (Get FASTA)   NCBI Sequence Viewer  
  CAB99250 (Get FASTA)   NCBI Sequence Viewer  
  CAH03193 (Get FASTA)   NCBI Sequence Viewer  
  CAI79370 (Get FASTA)   NCBI Sequence Viewer  
  CAZ39560 (Get FASTA)   NCBI Sequence Viewer  
  CBL54390 (Get FASTA)   NCBI Sequence Viewer  
  CBX89232 (Get FASTA)   NCBI Sequence Viewer  
  EAX00115 (Get FASTA)   NCBI Sequence Viewer  
  EAX00116 (Get FASTA)   NCBI Sequence Viewer  
  EAX00117 (Get FASTA)   NCBI Sequence Viewer  
  EAX00118 (Get FASTA)   NCBI Sequence Viewer  
  EAX00119 (Get FASTA)   NCBI Sequence Viewer  
  EAX00120 (Get FASTA)   NCBI Sequence Viewer  
  EAX00121 (Get FASTA)   NCBI Sequence Viewer  
  EAX00122 (Get FASTA)   NCBI Sequence Viewer  
  EAX00123 (Get FASTA)   NCBI Sequence Viewer  
  EAX00124 (Get FASTA)   NCBI Sequence Viewer  
  EAX00125 (Get FASTA)   NCBI Sequence Viewer  
  EAX00126 (Get FASTA)   NCBI Sequence Viewer  
  EAX00127 (Get FASTA)   NCBI Sequence Viewer  
  EAX00128 (Get FASTA)   NCBI Sequence Viewer  
  EAX00129 (Get FASTA)   NCBI Sequence Viewer  
  EAX00130 (Get FASTA)   NCBI Sequence Viewer  
  EAX00131 (Get FASTA)   NCBI Sequence Viewer  
  EAX00132 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000322147
  ENSP00000322147.7
  ENSP00000337838
  ENSP00000337838.6
  ENSP00000349944
  ENSP00000349944.3
  ENSP00000350365
  ENSP00000350365.4
  ENSP00000378107
  ENSP00000378107.2
  ENSP00000378109
  ENSP00000378109.2
  ENSP00000384471
  ENSP00000384471.1
  ENSP00000385650
  ENSP00000385650.1
  ENSP00000397808.1
  ENSP00000411628.1
  ENSP00000489133.1
GenBank Protein Q9NQC3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_722550   ⟸   NM_153828
- Peptide Label: isoform B
- UniProtKB: Q6IPN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_997403   ⟸   NM_207520
- Peptide Label: isoform D
- UniProtKB: Q6IPN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065393   ⟸   NM_020532
- Peptide Label: isoform A
- UniProtKB: Q9Y2Y7 (UniProtKB/Swiss-Prot),   Q9Y293 (UniProtKB/Swiss-Prot),   Q9UQ42 (UniProtKB/Swiss-Prot),   Q9H3I3 (UniProtKB/Swiss-Prot),   Q9H212 (UniProtKB/Swiss-Prot),   Q9BXG5 (UniProtKB/Swiss-Prot),   Q96B16 (UniProtKB/Swiss-Prot),   Q8IUA4 (UniProtKB/Swiss-Prot),   Q7L7Q8 (UniProtKB/Swiss-Prot),   Q7L7Q6 (UniProtKB/Swiss-Prot),   Q7L7Q5 (UniProtKB/Swiss-Prot),   O94962 (UniProtKB/Swiss-Prot),   Q9Y5U6 (UniProtKB/Swiss-Prot),   Q9NQC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997404   ⟸   NM_207521
- Peptide Label: isoform E
- UniProtKB: Q53RF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_008939   ⟸   NM_007008
- Peptide Label: isoform C
- UniProtKB: A6XGP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308833   ⟸   NM_001321904
- Peptide Label: isoform E
- UniProtKB: Q53RF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308788   ⟸   NM_001321859
- Peptide Label: isoform E
- UniProtKB: Q53RF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308789   ⟸   NM_001321860
- Peptide Label: isoform E
- UniProtKB: Q53RF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308790   ⟸   NM_001321861
- Peptide Label: isoform E
- UniProtKB: Q53RF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308791   ⟸   NM_001321862
- Peptide Label: isoform E
- UniProtKB: Q53RF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308792   ⟸   NM_001321863
- Peptide Label: isoform E
- UniProtKB: Q53RF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000397808   ⟸   ENST00000438462
RefSeq Acc Id: ENSP00000411628   ⟸   ENST00000427710
RefSeq Acc Id: ENSP00000337838   ⟸   ENST00000337526
RefSeq Acc Id: ENSP00000384825   ⟸   ENST00000402434
RefSeq Acc Id: ENSP00000385650   ⟸   ENST00000404909
RefSeq Acc Id: ENSP00000384471   ⟸   ENST00000405240
RefSeq Acc Id: ENSP00000489133   ⟸   ENST00000486085
RefSeq Acc Id: ENSP00000378107   ⟸   ENST00000394609
RefSeq Acc Id: ENSP00000378109   ⟸   ENST00000394611
RefSeq Acc Id: ENSP00000322147   ⟸   ENST00000317610
RefSeq Acc Id: ENSP00000349944   ⟸   ENST00000357376
RefSeq Acc Id: ENSP00000350365   ⟸   ENST00000357732
Protein Domains
Reticulon

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQC3-F1-model_v2 AlphaFold Q9NQC3 1-1192 view protein structure

Promoters
RGD ID:6860348
Promoter ID:EPDNEW_H3339
Type:initiation region
Name:RTN4_3
Description:reticulon 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3340  EPDNEW_H3341  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,010,272 - 55,010,332EPDNEW
RGD ID:6860350
Promoter ID:EPDNEW_H3340
Type:initiation region
Name:RTN4_1
Description:reticulon 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3339  EPDNEW_H3341  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,050,451 - 55,050,511EPDNEW
RGD ID:6798116
Promoter ID:HG_KWN:32684
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000326317
Position:
Human AssemblyChrPosition (strand)Source
Build 36255,090,631 - 55,091,131 (-)MPROMDB
RGD ID:6850724
Promoter ID:EP73156
Type:initiation region
Name:HS_RTN4
Description:Reticulon 4.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36255,090,912 - 55,090,972EPD
RGD ID:6797190
Promoter ID:HG_KWN:32686
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000402434
Position:
Human AssemblyChrPosition (strand)Source
Build 36255,105,926 - 55,108,492 (-)MPROMDB
RGD ID:6797192
Promoter ID:HG_KWN:32688
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354474,   ENST00000394611,   ENST00000404909,   OTTHUMT00000251484,   OTTHUMT00000251485,   OTTHUMT00000326316,   OTTHUMT00000326453,   OTTHUMT00000326455
Position:
Human AssemblyChrPosition (strand)Source
Build 36255,129,741 - 55,132,072 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14085 AgrOrtholog
COSMIC RTN4 COSMIC
Ensembl Genes ENSG00000115310 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000317610 ENTREZGENE
  ENST00000317610.11 UniProtKB/Swiss-Prot
  ENST00000337526 ENTREZGENE
  ENST00000337526.11 UniProtKB/Swiss-Prot
  ENST00000357376 ENTREZGENE
  ENST00000357376.7 UniProtKB/Swiss-Prot
  ENST00000357732 ENTREZGENE
  ENST00000357732.8 UniProtKB/Swiss-Prot
  ENST00000394609 ENTREZGENE
  ENST00000394609.6 UniProtKB/Swiss-Prot
  ENST00000394611 ENTREZGENE
  ENST00000394611.6 UniProtKB/Swiss-Prot
  ENST00000404909 ENTREZGENE
  ENST00000404909.5 UniProtKB/Swiss-Prot
  ENST00000405240 ENTREZGENE
  ENST00000405240.5 UniProtKB/Swiss-Prot
  ENST00000427710.5 UniProtKB/TrEMBL
  ENST00000438462.1 UniProtKB/TrEMBL
  ENST00000486085.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.2480 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115310 GTEx
HGNC ID HGNC:14085 ENTREZGENE
Human Proteome Map RTN4 Human Proteome Map
InterPro Reticulon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RTN1-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57142 UniProtKB/Swiss-Prot
NCBI Gene 57142 ENTREZGENE
OMIM 604475 OMIM
PANTHER RETICULON-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETICULON-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Reticulon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34883 PharmGKB
PROSITE RETICULON UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQR6_HUMAN UniProtKB/TrEMBL
  A6XGP7 ENTREZGENE, UniProtKB/TrEMBL
  C9J685_HUMAN UniProtKB/TrEMBL
  H7C106_HUMAN UniProtKB/TrEMBL
  O94962 ENTREZGENE
  Q53R94_HUMAN UniProtKB/TrEMBL
  Q53RF4 ENTREZGENE, UniProtKB/TrEMBL
  Q53SY1_HUMAN UniProtKB/TrEMBL
  Q6IPN0 ENTREZGENE, UniProtKB/TrEMBL
  Q7L7Q5 ENTREZGENE
  Q7L7Q6 ENTREZGENE
  Q7L7Q8 ENTREZGENE
  Q8IUA4 ENTREZGENE
  Q96B16 ENTREZGENE
  Q9BXG5 ENTREZGENE
  Q9H212 ENTREZGENE
  Q9H3I3 ENTREZGENE
  Q9NQC3 ENTREZGENE
  Q9UQ42 ENTREZGENE
  Q9Y293 ENTREZGENE
  Q9Y2Y7 ENTREZGENE
  Q9Y5U6 ENTREZGENE
  RTN4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O94962 UniProtKB/Swiss-Prot
  Q7L7Q5 UniProtKB/Swiss-Prot
  Q7L7Q6 UniProtKB/Swiss-Prot
  Q7L7Q8 UniProtKB/Swiss-Prot
  Q8IUA4 UniProtKB/Swiss-Prot
  Q96B16 UniProtKB/Swiss-Prot
  Q9BXG5 UniProtKB/Swiss-Prot
  Q9H212 UniProtKB/Swiss-Prot
  Q9H3I3 UniProtKB/Swiss-Prot
  Q9UQ42 UniProtKB/Swiss-Prot
  Q9Y293 UniProtKB/Swiss-Prot
  Q9Y2Y7 UniProtKB/Swiss-Prot
  Q9Y5U6 UniProtKB/Swiss-Prot