CD40 (CD40 molecule) - Rat Genome Database

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Gene: CD40 (CD40 molecule) Homo sapiens
Analyze
Symbol: CD40
Name: CD40 molecule
RGD ID: 1604657
HGNC Page HGNC
Description: Enables ubiquitin protein ligase binding activity. Involved in several processes, including CD40 signaling pathway; positive regulation of intracellular signal transduction; and regulation of transcription, DNA-templated. Located in cell surface and extracellular exosome. Implicated in several diseases, including Kawasaki disease; autoimmune disease (multiple); end stage renal disease; hyperimmunoglobulin syndrome (multiple); and non-Hodgkin lymphoma (multiple). Biomarker of several diseases, including artery disease (multiple); autoimmune disease (multiple); bronchial disease (multiple); cardiomyopathy (multiple); and hematologic cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B cell surface antigen CD40; B cell-associated molecule; B-cell surface antigen CD40; Bp50; CD40 antigen (TNF receptor superfamily member 5); CD40 molecule TNF receptor superfamily member 5; CD40 molecule, TNF receptor superfamily member 5; CD40 type II isoform; CD40L receptor; CDW40; MGC9013; nerve growth factor receptor-related B-lymphocyte activation molecule; p50; TNFRSF5; tumor necrosis factor receptor superfamily member 5; tumor necrosis factor receptor superfamily, member 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2046,118,278 - 46,129,863 (+)EnsemblGRCh38hg38GRCh38
GRCh382046,118,242 - 46,129,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372044,746,953 - 44,758,497 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,180,313 - 44,191,791 (+)NCBINCBI36hg18NCBI36
Celera2041,458,363 - 41,469,842 (+)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2041,488,189 - 41,499,674 (+)NCBIHuRef
CHM1_12044,649,540 - 44,661,003 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Coronary Syndrome  (IAGP)
acute myocarditis  (IEP)
allergic rhinitis  (IEP)
Alzheimer's disease  (ISO)
Animal Helminthiasis  (ISO)
Animal Mammary Neoplasms  (ISO)
Animal Viral Hepatitis  (ISO)
anti-basement membrane glomerulonephritis  (ISO)
arthritis  (IAGP)
asthma  (IAGP,IEP,ISO)
atherosclerosis  (ISO)
atopic dermatitis  (IEP)
atrial fibrillation  (IEP)
autoimmune thrombocytopenic purpura  (IEP)
B-Cell Chronic Lymphocytic Leukemia  (IMP)
B-cell lymphoma  (IMP)
bacterial pneumonia  (ISO)
Brain Injuries  (ISO)
Breast Neoplasms  (EXP)
bronchiolitis  (IEP)
Burkitt lymphoma  (IMP)
chlamydia  (ISO)
Chronic Allograft Dysfunction  (ISO)
chronic myeloid leukemia  (IEP)
chronic obstructive pulmonary disease  (IEP)
colitis  (ISO)
crescentic glomerulonephritis  (ISO)
Crohn's disease  (IAGP,IEP)
cryptococcosis  (ISO)
cutaneous lupus erythematosus  (IEP)
Delayed Hypersensitivity  (ISO)
dermatomyositis  (IEP)
diffuse large B-cell lymphoma  (IAGP)
dilated cardiomyopathy  (IEP)
Discoid Lupus Erythematosus  (IEP)
Ehrlich tumor carcinoma  (ISO)
end stage renal disease  (IDA,IEP)
Endotoxemia  (ISO)
erythema multiforme  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Myocarditis  (ISO)
Experimental Autoimmune Neuritis  (ISO)
follicular lymphoma  (IAGP)
Graft vs Host Disease  (ISO)
Graves' disease  (IAGP)
Hashimoto Disease  (IEP)
high grade glioma  (ISO)
Hodgkin's lymphoma  (EXP)
human immunodeficiency virus infectious disease  (IEP)
Human Influenza  (ISO)
hyper IgM syndrome  (EXP,IAGP)
Hypercholesterolemia  (ISO)
hyperglycemia  (EXP)
hyperimmunoglobulin syndrome  (IAGP)
hyperinsulinism  (EXP)
hyperthyroidism  (ISO)
immunodeficiency with hyper IgM type 3  (IAGP)
Inflammation  (ISO)
Insulin Resistance  (EXP)
insulinoma  (ISO)
Kawasaki disease  (EXP,IAGP)
Kidney Reperfusion Injury  (ISO)
lichen planus  (IEP)
Liver Reperfusion Injury  (ISO)
lupus nephritis  (ISO)
Lyme Neuroborreliosis  (IEP)
Lymphatic Metastasis  (IAGP)
malaria  (ISO)
malignant mesothelioma  (ISO)
Mammary Neoplasms, Experimental  (ISO)
melanoma  (IMP,ISO)
membranous glomerulonephritis  (ISO)
multiple myeloma  (IMP)
multiple sclerosis  (EXP,IAGP)
Murine Acquired Immunodeficiency Syndrome  (ISO)
myelodysplastic syndrome  (IEP)
Myocardial Ischemia  (ISO)
Neisseriaceae Infections  (IEP)
non-Hodgkin lymphoma  (IMP)
obesity  (EXP,ISO)
pancreatic ductal carcinoma  (IDA,IEP,IMP)
pemphigus  (IDA)
Perennial Allergic Rhinitis  (ISO)
perinatal necrotizing enterocolitis  (ISO)
peritonitis  (ISO)
plasma cell leukemia  (IMP)
pneumocystosis  (ISO)
pre-eclampsia  (IEP)
psoriasis  (IAGP)
pulmonary hypertension  (ISO)
renal artery obstruction  (IEP)
renal cell carcinoma  (ISO)
Reperfusion Injury  (ISO)
rheumatoid arthritis  (EXP,IAGP)
Schistosomiasis Mansoni  (ISO)
Sepsis  (IDA)
skin melanoma  (IEP)
status epilepticus  (EXP)
Stroke  (IEP)
Subacute Combined Degeneration  (ISO)
systemic lupus erythematosus  (IAGP)
thrombosis  (ISO)
tick-borne encephalitis  (IEP)
transient cerebral ischemia  (ISO)
Transplant Rejection  (IEP,IMP,ISO)
type 1 diabetes mellitus  (IEP)
ulcerative colitis  (IEP)
Vascular Calcification  (IEP)
Viral Myocarditis  (ISO)
visceral leishmaniasis  (ISO)
visual epilepsy  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-demecolcine  (EXP)
(R)-mevalonic acid  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-mercaptopropanoic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-aminopyridine  (ISO)
4-DAMP(1+)  (EXP)
4-hydroxycyclophosphamide  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
afimoxifene  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aluminium hydroxide  (EXP)
ammonium chloride  (ISO)
ampicillin  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP)
arachidonic acid  (EXP)
aristolochic acid  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
asbestos  (EXP)
atorvastatin calcium  (EXP)
atropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucan  (ISO)
betamethasone valerate  (EXP)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
Calcimycin  (EXP)
calcitriol  (EXP)
carbachol  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (EXP,ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
cortisol  (ISO)
curcumin  (EXP)
cyanocob(III)alamin  (EXP)
cyclophosphamide  (ISO)
daidzein  (ISO)
delta-tocotrienol  (ISO)
deoxynivalenol  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fenofibrate  (EXP)
fisetin  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
furan  (ISO)
furosemide  (ISO)
gemcitabine  (EXP)
Genipin  (ISO)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
helenalin  (EXP)
histamine  (EXP)
hydroxysafflor yellow A  (ISO)
imiquimod  (ISO)
immunological adjuvant  (EXP)
indirubin-3'-monoxime  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
isoflurane  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (ISO)
lovastatin  (ISO)
luteolin  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
metam  (ISO)
mevastatin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
muramyl dipeptide  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
niclosamide  (ISO)
nicotinamide  (ISO)
nystatin  (ISO)
o-anisidine  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
pentanal  (EXP)
pevonedistat  (EXP)
phenethyl isothiocyanate  (EXP,ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirenzepine  (EXP)
poly(I:C)  (EXP)
pravastatin  (ISO)
propanal  (EXP)
protein kinase inhibitor  (EXP)
quercetin  (EXP,ISO)
raloxifene  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP,ISO)
sirtinol  (ISO)
sodium arsenite  (ISO)
sodium aurothiosulfate  (EXP)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
succimer  (ISO)
tetrathiomolybdate(2-)  (EXP)
thimerosal  (EXP)
toluene 2,4-diisocyanate  (ISO)
trimellitic anhydride  (ISO)
triprolidine  (EXP)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP)
U-73122  (EXP)
valproic acid  (EXP)
vemurafenib  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
zaragozic acid A  (ISO)
zinc atom  (EXP)
zinc protoporphyrin  (ISO)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell activation  (IBA,IEA,ISO)
B cell mediated immunity  (IEA)
B cell proliferation  (NAS)
CD40 signaling pathway  (IBA,IDA)
cellular calcium ion homeostasis  (IMP)
cellular response to erythropoietin  (ISO)
cellular response to interleukin-1  (IBA,ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to mechanical stimulus  (IEP)
cellular response to tumor necrosis factor  (IBA,ISO)
defense response to protozoan  (IBA,ISO)
defense response to virus  (IBA,ISO)
immune response-regulating cell surface receptor signaling pathway  (IBA,ISO)
inflammatory response  (IBA,ISO)
platelet activation  (NAS)
positive regulation of angiogenesis  (IBA,IMP)
positive regulation of B cell proliferation  (IBA,ISO)
positive regulation of blood vessel endothelial cell migration  (IBA,IMP)
positive regulation of endothelial cell apoptotic process  (IBA,IDA)
positive regulation of GTPase activity  (IMP)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (IBA,IEP)
positive regulation of interleukin-12 production  (IBA,ISO)
positive regulation of isotype switching to IgG isotypes  (IBA,ISO)
positive regulation of MAP kinase activity  (IMP)
positive regulation of NF-kappaB transcription factor activity  (IBA,IMP)
positive regulation of protein kinase C signaling  (IMP)
positive regulation of protein phosphorylation  (IMP)
positive regulation of transcription by RNA polymerase II  (IBA,IMP)
positive regulation of tyrosine phosphorylation of STAT protein  (IBA,IMP)
protein kinase B signaling  (IEA,ISO)
protein-containing complex assembly  (TAS)
regulation of immune response  (IEA,ISO)
regulation of immunoglobulin production  (ISO)
response to bacterium  (ISO)
response to cobalamin  (ISO)
response to interferon-gamma  (IBA,ISO)
response to nutrient levels  (ISO)
response to peptide  (ISO)
TRIF-dependent toll-like receptor signaling pathway  (IBA)

Cellular Component

Molecular Function

References

References - curated
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Additional References at PubMed
PMID:1701063   PMID:2475341   PMID:2998589   PMID:3487090   PMID:7516405   PMID:7516669   PMID:7518550   PMID:7522634   PMID:7527023   PMID:7530216   PMID:7533327   PMID:7538666  
PMID:7541827   PMID:7543281   PMID:7544915   PMID:7687385   PMID:7859281   PMID:8125298   PMID:8562382   PMID:8605945   PMID:8790348   PMID:9020361   PMID:9037712   PMID:9050882  
PMID:9133417   PMID:9144479   PMID:9168896   PMID:9384571   PMID:9432981   PMID:9468137   PMID:9511754   PMID:9605317   PMID:9624004   PMID:9642260   PMID:9671306   PMID:9718306  
PMID:9933087   PMID:9990007   PMID:10075662   PMID:10092834   PMID:10352240   PMID:10395671   PMID:10411888   PMID:10514012   PMID:10600748   PMID:10601289   PMID:10647992   PMID:10741409  
PMID:10748139   PMID:10764746   PMID:10847592   PMID:10984535   PMID:11042507   PMID:11087201   PMID:11129651   PMID:11160013   PMID:11172023   PMID:11268217   PMID:11279055   PMID:11562359  
PMID:11676606   PMID:11714772   PMID:11714804   PMID:11751963   PMID:11751974   PMID:11780052   PMID:11792123   PMID:11817328   PMID:11826760   PMID:11830495   PMID:11830590   PMID:11867568  
PMID:11870634   PMID:11876766   PMID:11877469   PMID:11891278   PMID:11981834   PMID:11997318   PMID:12005438   PMID:12011072   PMID:12039918   PMID:12070030   PMID:12089335   PMID:12093796  
PMID:12122011   PMID:12140561   PMID:12149421   PMID:12165546   PMID:12207328   PMID:12209089   PMID:12209092   PMID:12220533   PMID:12223522   PMID:12324477   PMID:12356871   PMID:12433678  
PMID:12437073   PMID:12460235   PMID:12477932   PMID:12488500   PMID:12507785   PMID:12510151   PMID:12576427   PMID:12576441   PMID:12584544   PMID:12604404   PMID:12624779   PMID:12626576  
PMID:12637493   PMID:12672076   PMID:12676820   PMID:12686591   PMID:12761501   PMID:12764232   PMID:12778475   PMID:12799532   PMID:12810728   PMID:12829914   PMID:12855571   PMID:12857749  
PMID:12874247   PMID:12885753   PMID:12893749   PMID:12905492   PMID:14515262   PMID:14517219   PMID:14557256   PMID:14568936   PMID:14611700   PMID:14612943   PMID:14617752   PMID:14633128  
PMID:14644094   PMID:14651941   PMID:14665433   PMID:14687897   PMID:14695541   PMID:14699489   PMID:14742996   PMID:14747545   PMID:14764664   PMID:14976003   PMID:14991615   PMID:15001471  
PMID:15069543   PMID:15078922   PMID:15102691   PMID:15113760   PMID:15153777   PMID:15187129   PMID:15272925   PMID:15290728   PMID:15291139   PMID:15301860   PMID:15331443   PMID:15339846  
PMID:15340161   PMID:15367912   PMID:15375484   PMID:15485634   PMID:15489334   PMID:15578091   PMID:15611322   PMID:15634933   PMID:15670770   PMID:15690148   PMID:15708600   PMID:15749123  
PMID:15753667   PMID:15817705   PMID:15838273   PMID:15883744   PMID:15994291   PMID:16033859   PMID:16091748   PMID:16127217   PMID:16142355   PMID:16149136   PMID:16213477   PMID:16221206  
PMID:16246299   PMID:16260598   PMID:16279844   PMID:16341674   PMID:16356505   PMID:16356539   PMID:16357329   PMID:16429118   PMID:16504636   PMID:16644731   PMID:16756465   PMID:16806233  
PMID:16864989   PMID:16893496   PMID:16901543   PMID:16936191   PMID:16964404   PMID:17012138   PMID:17026470   PMID:17043147   PMID:17077013   PMID:17154264   PMID:17199090   PMID:17202327  
PMID:17225862   PMID:17237414   PMID:17237417   PMID:17255560   PMID:17302995   PMID:17312171   PMID:17319699   PMID:17344890   PMID:17353931   PMID:17376892   PMID:17446175   PMID:17459878  
PMID:17534894   PMID:17553307   PMID:17599408   PMID:17678876   PMID:17687557   PMID:17703412   PMID:17721998   PMID:17786592   PMID:17878343   PMID:17884785   PMID:17904146   PMID:17918746  
PMID:17925605   PMID:17949264   PMID:17967972   PMID:17989345   PMID:17999420   PMID:18037736   PMID:18064390   PMID:18097708   PMID:18159101   PMID:18217399   PMID:18253927   PMID:18287517  
PMID:18289643   PMID:18437082   PMID:18445342   PMID:18446002   PMID:18487509   PMID:18495129   PMID:18548529   PMID:18552209   PMID:18591382   PMID:18593367   PMID:18603231   PMID:18606651  
PMID:18636124   PMID:18669876   PMID:18676680   PMID:18694960   PMID:18705404   PMID:18713981   PMID:18794853   PMID:18796631   PMID:18835787   PMID:18849075   PMID:18996438   PMID:19002156  
PMID:19018001   PMID:19023113   PMID:19099972   PMID:19110536   PMID:19118532   PMID:19170196   PMID:19171874   PMID:19180477   PMID:19183933   PMID:19246174   PMID:19258923   PMID:19268365  
PMID:19272596   PMID:19275586   PMID:19336218   PMID:19397878   PMID:19419774   PMID:19421221   PMID:19422822   PMID:19435719   PMID:19448410   PMID:19458171   PMID:19475450   PMID:19479954  
PMID:19494299   PMID:19525955   PMID:19573080   PMID:19592656   PMID:19593445   PMID:19622350   PMID:19625176   PMID:19644859   PMID:19667091   PMID:19674979   PMID:19692168   PMID:19735272  
PMID:19751723   PMID:19773279   PMID:19834879   PMID:19865524   PMID:19889024   PMID:19906293   PMID:19911254   PMID:19913121   PMID:19948975   PMID:20012522   PMID:20049410   PMID:20058617  
PMID:20067533   PMID:20081875   PMID:20107176   PMID:20118277   PMID:20127135   PMID:20137882   PMID:20219786   PMID:20233754   PMID:20237496   PMID:20303602   PMID:20368992   PMID:20371189  
PMID:20416077   PMID:20439292   PMID:20444755   PMID:20449947   PMID:20453842   PMID:20458337   PMID:20467921   PMID:20503287   PMID:20504251   PMID:20552594   PMID:20568250   PMID:20577873  
PMID:20593977   PMID:20614026   PMID:20628086   PMID:20634492   PMID:20650312   PMID:20676093   PMID:20682661   PMID:20702779   PMID:20716621   PMID:20726323   PMID:20797713   PMID:20842056  
PMID:21041727   PMID:21054240   PMID:21071692   PMID:21103345   PMID:21138731   PMID:21200133   PMID:21223957   PMID:21239998   PMID:21282461   PMID:21285457   PMID:21337550   PMID:21383499  
PMID:21403646   PMID:21410936   PMID:21415255   PMID:21567389   PMID:21741080   PMID:21813202   PMID:21832282   PMID:21833088   PMID:21866398   PMID:21873635   PMID:21922073   PMID:21976957  
PMID:21999662   PMID:22010829   PMID:22058328   PMID:22077624   PMID:22087016   PMID:22142817   PMID:22190364   PMID:22219050   PMID:22295117   PMID:22302395   PMID:22310643   PMID:22335531  
PMID:22406982   PMID:22429276   PMID:22445357   PMID:22446961   PMID:22446962   PMID:22461623   PMID:22505696   PMID:22532139   PMID:22547704   PMID:22552529   PMID:22558273   PMID:22564607  
PMID:22564647   PMID:22687258   PMID:22706687   PMID:22722990   PMID:22731751   PMID:22783574   PMID:22803080   PMID:22814930   PMID:22820189   PMID:22851860   PMID:22863718   PMID:22888137  
PMID:22904686   PMID:22952582   PMID:22965071   PMID:23000501   PMID:23002440   PMID:23073798   PMID:23092922   PMID:23100517   PMID:23128233   PMID:23166616   PMID:23257401   PMID:23334419  
PMID:23400328   PMID:23419881   PMID:23429328   PMID:23456134   PMID:23463508   PMID:23509150   PMID:23528588   PMID:23528589   PMID:23604864   PMID:23613777   PMID:23669336   PMID:23686494  
PMID:23751348   PMID:23824909   PMID:23858029   PMID:23918987   PMID:23924922   PMID:23954880   PMID:23981064   PMID:24107910   PMID:24120361   PMID:24122029   PMID:24189063   PMID:24202305  
PMID:24260396   PMID:24358353   PMID:24390342   PMID:24452203   PMID:24632372   PMID:24657679   PMID:24679691   PMID:24719952   PMID:24801648   PMID:24810049   PMID:24812060   PMID:24828072  
PMID:24866241   PMID:24885116   PMID:24912008   PMID:24931231   PMID:24945092   PMID:25004625   PMID:25024369   PMID:25051892   PMID:25163469   PMID:25301451   PMID:25305459   PMID:25324844  
PMID:25344184   PMID:25373542   PMID:25416956   PMID:25492061   PMID:25502805   PMID:25514317   PMID:25547203   PMID:25600834   PMID:25636783   PMID:25665853   PMID:25780036   PMID:25802187  
PMID:25908480   PMID:25910212   PMID:25936345   PMID:25977307   PMID:25992978   PMID:26054744   PMID:26068105   PMID:26210919   PMID:26268734   PMID:26289938   PMID:26305332   PMID:26462153  
PMID:26474561   PMID:26545336   PMID:26658005   PMID:26779844   PMID:26821950   PMID:26823861   PMID:26871637   PMID:26901523   PMID:27031714   PMID:27063419   PMID:27077111   PMID:27090943  
PMID:27118451   PMID:27200368   PMID:27412561   PMID:27461004   PMID:27472092   PMID:27512950   PMID:27578014   PMID:27630283   PMID:27631497   PMID:27716849   PMID:27722794   PMID:27798157  
PMID:27813548   PMID:27869172   PMID:27875792   PMID:27929668   PMID:27992360   PMID:28030642   PMID:28281187   PMID:28320398   PMID:28536305   PMID:28566713   PMID:28742400   PMID:28801306  
PMID:28904313   PMID:28963582   PMID:29146546   PMID:29180619   PMID:29361022   PMID:29371709   PMID:29549140   PMID:29780830   PMID:30089130   PMID:30223781   PMID:30305327   PMID:30374748  
PMID:30447377   PMID:30464201   PMID:30511624   PMID:30878028   PMID:30890614   PMID:30924686   PMID:31125770   PMID:31183392   PMID:31313080   PMID:31331973   PMID:31365872   PMID:31373353  
PMID:31515488   PMID:31570051   PMID:31615434   PMID:31642196   PMID:31921199   PMID:32041822   PMID:32111053   PMID:32296183   PMID:32407843   PMID:32419081   PMID:32700598   PMID:33180391  
PMID:33371207   PMID:33961781   PMID:33968033   PMID:34084166  


Genomics

Comparative Map Data
CD40
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2046,118,278 - 46,129,863 (+)EnsemblGRCh38hg38GRCh38
GRCh382046,118,242 - 46,129,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372044,746,953 - 44,758,497 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,180,313 - 44,191,791 (+)NCBINCBI36hg18NCBI36
Celera2041,458,363 - 41,469,842 (+)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2041,488,189 - 41,499,674 (+)NCBIHuRef
CHM1_12044,649,540 - 44,661,003 (+)NCBICHM1_1
Cd40
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392164,897,535 - 164,913,574 (+)NCBIGRCm39mm39
GRCm39 Ensembl2164,897,547 - 164,914,868 (+)Ensembl
GRCm382165,055,614 - 165,071,654 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2165,055,627 - 165,072,948 (+)EnsemblGRCm38mm10GRCm38
MGSCv372164,881,136 - 164,897,154 (+)NCBIGRCm37mm9NCBIm37
MGSCv362164,746,841 - 164,762,859 (+)NCBImm8
Celera2170,992,951 - 171,008,953 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.38NCBI
Cd40
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23153,790,372 - 153,805,279 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl3153,790,449 - 153,805,534 (+)Ensembl
Rnor_6.03161,519,789 - 161,534,943 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3161,519,743 - 161,534,704 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03167,704,285 - 167,719,416 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43156,092,602 - 156,107,427 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13155,998,622 - 156,006,374 (+)NCBI
Celera3152,395,702 - 152,410,527 (+)NCBICelera
Cytogenetic Map3q42NCBI
Cd40
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544511,190,603 - 11,202,093 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544511,191,817 - 11,202,156 (-)NCBIChiLan1.0ChiLan1.0
CD40
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12043,541,619 - 43,552,994 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2043,541,619 - 43,552,994 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02042,455,711 - 42,467,139 (+)NCBIMhudiblu_PPA_v0panPan3
CD40
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12433,352,992 - 33,383,488 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2433,372,930 - 33,383,301 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2432,899,232 - 32,909,488 (+)NCBI
ROS_Cfam_1.02434,062,814 - 34,092,886 (+)NCBI
UMICH_Zoey_3.12433,340,743 - 33,351,000 (+)NCBI
UNSW_CanFamBas_1.02433,456,512 - 33,466,773 (+)NCBI
UU_Cfam_GSD_1.02433,995,494 - 34,005,757 (+)NCBI
Cd40
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,483,088 - 191,493,621 (-)NCBI
SpeTri2.0NW_0049365146,936,915 - 6,947,246 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD40
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,286,029 - 48,298,528 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,286,116 - 48,298,188 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21753,932,001 - 53,943,003 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CD40
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1217,753,713 - 17,765,134 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl217,753,394 - 17,764,566 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605066,388,299 - 66,399,227 (-)NCBIVero_WHO_p1.0
Cd40
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247908,475,640 - 8,485,927 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D19S247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,139,982 - 3,140,202UniSTSGRCh37
Build 36193,090,982 - 3,091,202RGDNCBI36
Celera193,076,311 - 3,076,539RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,908,753 - 2,909,009UniSTS
Marshfield Genetic Map199.84UniSTS
Marshfield Genetic Map199.84RGD
RH93708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,755,487 - 44,755,610UniSTSGRCh37
Build 362044,188,894 - 44,189,017RGDNCBI36
Celera2041,466,945 - 41,467,068RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,496,775 - 41,496,898UniSTS
GeneMap99-GB4 RH Map20257.44UniSTS
PMC259134P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,756,977 - 44,757,654UniSTSGRCh37
Build 362044,190,384 - 44,191,061RGDNCBI36
Celera2041,468,435 - 41,469,112RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,267 - 41,498,944UniSTS
PMC60102P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,746,855 - 44,747,070UniSTSGRCh37
Build 362044,180,262 - 44,180,477RGDNCBI36
Celera2041,458,312 - 41,458,527RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,488,138 - 41,488,353UniSTS
PMC60102P10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,757,457 - 44,757,735UniSTSGRCh37
Build 362044,190,864 - 44,191,142RGDNCBI36
Celera2041,468,915 - 41,469,193RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,747 - 41,499,025UniSTS
PMC60102P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,751,436 - 44,751,998UniSTSGRCh37
Build 362044,184,843 - 44,185,405RGDNCBI36
Celera2041,462,894 - 41,463,456RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,492,721 - 41,493,283UniSTS
PMC60102P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,750,399 - 44,750,584UniSTSGRCh37
Build 362044,183,806 - 44,183,991RGDNCBI36
Celera2041,461,857 - 41,462,042RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,491,684 - 41,491,869UniSTS
PMC60102P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,750,813 - 44,751,062UniSTSGRCh37
Build 362044,184,220 - 44,184,469RGDNCBI36
Celera2041,462,271 - 41,462,520RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,492,098 - 41,492,347UniSTS
PMC60102P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,751,156 - 44,751,453UniSTSGRCh37
Build 362044,184,563 - 44,184,860RGDNCBI36
Celera2041,462,614 - 41,462,911RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,492,441 - 41,492,738UniSTS
PMC60102P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,751,719 - 44,751,998UniSTSGRCh37
Build 362044,185,126 - 44,185,405RGDNCBI36
Celera2041,463,177 - 41,463,456RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,493,004 - 41,493,283UniSTS
PMC60102P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,755,145 - 44,755,382UniSTSGRCh37
Build 362044,188,552 - 44,188,789RGDNCBI36
Celera2041,466,603 - 41,466,840RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,496,433 - 41,496,670UniSTS
PMC60102P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,756,725 - 44,756,924UniSTSGRCh37
Build 362044,190,132 - 44,190,331RGDNCBI36
Celera2041,468,183 - 41,468,382RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,013 - 41,498,212UniSTS
PMC60102P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,756,725 - 44,757,078UniSTSGRCh37
Build 362044,190,132 - 44,190,485RGDNCBI36
Celera2041,468,183 - 41,468,536RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,013 - 41,498,368UniSTS
STS-R49884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,757,778 - 44,757,927UniSTSGRCh37
Build 362044,191,185 - 44,191,334RGDNCBI36
Celera2041,469,236 - 41,469,385RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,499,068 - 41,499,217UniSTS
GeneMap99-GB4 RH Map20257.34UniSTS
NCBI RH Map20441.6UniSTS
CD40_s5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,757,537 - 44,758,218UniSTSGRCh37
Celera2041,468,995 - 41,469,676UniSTS
HuRef2041,498,827 - 41,499,508UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR224hsa-miR-224-5pMirtarbaseexternal_infoMicroarray//qRT-PCRFunctional MTI (Weak)19475450

Predicted Target Of
Summary Value
Count of predictions:1937
Count of miRNA genes:776
Interacting mature miRNAs:912
Transcripts:ENST00000372276, ENST00000372285, ENST00000461171, ENST00000466205, ENST00000477696, ENST00000489304
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.


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
Medium 1830 1624 1128 336 1145 184 3307 952 1105 288 1011 1450 158 1204 1907 1
Low 529 1361 589 283 746 275 1016 1225 2567 124 432 73 15 1 881 3 2
Below cutoff 33 6 6 2 38 3 16 15 26 5 11 56 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ300189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY225405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY504960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM761221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX364284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX364285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS095651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS095653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS103051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS103053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS362569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS362571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ871604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB293281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB293283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM980682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM980684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB386506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB386508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC324854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC324856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC728083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH930542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH930544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI651118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI651120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI921882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI921884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY063089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY088000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA086558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA086560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB368781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB368783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372276   ⟹   ENSP00000361350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,118,316 - 46,129,863 (+)Ensembl
RefSeq Acc Id: ENST00000372285   ⟹   ENSP00000361359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,118,314 - 46,129,858 (+)Ensembl
RefSeq Acc Id: ENST00000461171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,122,318 - 46,127,161 (+)Ensembl
RefSeq Acc Id: ENST00000466205   ⟹   ENSP00000434825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,118,348 - 46,129,126 (+)Ensembl
RefSeq Acc Id: ENST00000477696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,118,373 - 46,129,004 (+)Ensembl
RefSeq Acc Id: ENST00000489304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,118,351 - 46,129,863 (+)Ensembl
RefSeq Acc Id: ENST00000620709   ⟹   ENSP00000484074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2046,118,278 - 46,129,659 (+)Ensembl
RefSeq Acc Id: NM_001250   ⟹   NP_001241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
GRCh372044,746,899 - 44,758,384 (+)NCBI
Build 362044,180,313 - 44,191,791 (+)NCBI Archive
HuRef2041,488,189 - 41,499,674 (+)ENTREZGENE
CHM1_12044,649,527 - 44,661,003 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001302753   ⟹   NP_001289682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322421   ⟹   NP_001309350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322422   ⟹   NP_001309351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362758   ⟹   NP_001349687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
RefSeq Acc Id: NM_152854   ⟹   NP_690593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
GRCh372044,746,899 - 44,758,384 (+)NCBI
Build 362044,180,313 - 44,191,791 (+)NCBI Archive
HuRef2041,488,189 - 41,499,674 (+)ENTREZGENE
CHM1_12044,649,527 - 44,661,003 (+)NCBI
Sequence:
RefSeq Acc Id: NR_126502
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136327
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260619   ⟹   XP_005260676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,242 - 46,129,662 (+)NCBI
GRCh372044,746,899 - 44,758,384 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529109   ⟹   XP_011527411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,242 - 46,127,655 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028135   ⟹   XP_016883624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,242 - 46,129,662 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028136   ⟹   XP_016883625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,243 - 46,129,662 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001241 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289682 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309350 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309351 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349687 (Get FASTA)   NCBI Sequence Viewer  
  NP_690593 (Get FASTA)   NCBI Sequence Viewer  
  XP_005260676 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527411 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883624 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883625 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12419 (Get FASTA)   NCBI Sequence Viewer  
  AAH64518 (Get FASTA)   NCBI Sequence Viewer  
  AAO43990 (Get FASTA)   NCBI Sequence Viewer  
  AAR84238 (Get FASTA)   NCBI Sequence Viewer  
  AAV38704 (Get FASTA)   NCBI Sequence Viewer  
  ABI49511 (Get FASTA)   NCBI Sequence Viewer  
  ABK41937 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33424 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33425 (Get FASTA)   NCBI Sequence Viewer  
  BAD92897 (Get FASTA)   NCBI Sequence Viewer  
  BAD96616 (Get FASTA)   NCBI Sequence Viewer  
  CAC29424 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00027 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00028 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00033 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00034 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00124 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00125 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00728 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00729 (Get FASTA)   NCBI Sequence Viewer  
  CAL31951 (Get FASTA)   NCBI Sequence Viewer  
  CAL31952 (Get FASTA)   NCBI Sequence Viewer  
  CAL47757 (Get FASTA)   NCBI Sequence Viewer  
  CAL47758 (Get FASTA)   NCBI Sequence Viewer  
  CAL47760 (Get FASTA)   NCBI Sequence Viewer  
  CAL47761 (Get FASTA)   NCBI Sequence Viewer  
  CAL99221 (Get FASTA)   NCBI Sequence Viewer  
  CAL99222 (Get FASTA)   NCBI Sequence Viewer  
  CAL99226 (Get FASTA)   NCBI Sequence Viewer  
  CAL99227 (Get FASTA)   NCBI Sequence Viewer  
  CAQ64629 (Get FASTA)   NCBI Sequence Viewer  
  CAQ64630 (Get FASTA)   NCBI Sequence Viewer  
  CAX20923 (Get FASTA)   NCBI Sequence Viewer  
  CAX20924 (Get FASTA)   NCBI Sequence Viewer  
  CAZ64457 (Get FASTA)   NCBI Sequence Viewer  
  CAZ64458 (Get FASTA)   NCBI Sequence Viewer  
  CBJ55369 (Get FASTA)   NCBI Sequence Viewer  
  CBJ55370 (Get FASTA)   NCBI Sequence Viewer  
  CBL93995 (Get FASTA)   NCBI Sequence Viewer  
  CBX32768 (Get FASTA)   NCBI Sequence Viewer  
  CBX32769 (Get FASTA)   NCBI Sequence Viewer  
  CBX55113 (Get FASTA)   NCBI Sequence Viewer  
  CBX55114 (Get FASTA)   NCBI Sequence Viewer  
  CBX55116 (Get FASTA)   NCBI Sequence Viewer  
  CBX55117 (Get FASTA)   NCBI Sequence Viewer  
  CBX89251 (Get FASTA)   NCBI Sequence Viewer  
  CBX89252 (Get FASTA)   NCBI Sequence Viewer  
  CBY65289 (Get FASTA)   NCBI Sequence Viewer  
  CBY65290 (Get FASTA)   NCBI Sequence Viewer  
  CCA63957 (Get FASTA)   NCBI Sequence Viewer  
  CCA63958 (Get FASTA)   NCBI Sequence Viewer  
  CDH93531 (Get FASTA)   NCBI Sequence Viewer  
  CDH93532 (Get FASTA)   NCBI Sequence Viewer  
  EAW75757 (Get FASTA)   NCBI Sequence Viewer  
  EAW75758 (Get FASTA)   NCBI Sequence Viewer  
  EAW75759 (Get FASTA)   NCBI Sequence Viewer  
  EAW75760 (Get FASTA)   NCBI Sequence Viewer  
  EAW75761 (Get FASTA)   NCBI Sequence Viewer  
  EAW75762 (Get FASTA)   NCBI Sequence Viewer  
  EAW75763 (Get FASTA)   NCBI Sequence Viewer  
  P25942 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001241   ⟸   NM_001250
- Peptide Label: isoform 1 precursor
- UniProtKB: P25942 (UniProtKB/Swiss-Prot),   A0A0S2Z3C7 (UniProtKB/TrEMBL),   Q6P2H9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_690593   ⟸   NM_152854
- Peptide Label: isoform 2 precursor
- UniProtKB: P25942 (UniProtKB/Swiss-Prot),   Q6P2H9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260676   ⟸   XM_005260619
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001289682   ⟸   NM_001302753
- Peptide Label: isoform 3 precursor
- UniProtKB: P25942 (UniProtKB/Swiss-Prot),   Q6P2H9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527411   ⟸   XM_011529109
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001309350   ⟸   NM_001322421
- Peptide Label: isoform 4 precursor
- Sequence:
RefSeq Acc Id: NP_001309351   ⟸   NM_001322422
- Peptide Label: isoform 5 precursor
- UniProtKB: P25942 (UniProtKB/Swiss-Prot),   A0A0S2Z349 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883624   ⟸   XM_017028135
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016883625   ⟸   XM_017028136
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001349687   ⟸   NM_001362758
- Peptide Label: isoform 6 precursor
RefSeq Acc Id: ENSP00000484074   ⟸   ENST00000620709
RefSeq Acc Id: ENSP00000361350   ⟸   ENST00000372276
RefSeq Acc Id: ENSP00000361359   ⟸   ENST00000372285
RefSeq Acc Id: ENSP00000434825   ⟸   ENST00000466205
Protein Domains
TNFR-Cys

Promoters
RGD ID:6798592
Promoter ID:HG_KWN:39660
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000279061,   ENST00000372278,   OTTHUMT00000080376,   OTTHUMT00000080377,   OTTHUMT00000080378,   OTTHUMT00000080380,   UC002XRF.1,   UC002XRI.1,   UC002XRJ.1,   UC002XRK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,180,099 - 44,180,599 (+)MPROMDB
RGD ID:6798586
Promoter ID:HG_KWN:39661
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000080379
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,183,501 - 44,184,797 (+)MPROMDB
RGD ID:6812022
Promoter ID:HG_ACW:49442
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CD40.KAPR07-UNSPLICED,   CD40.MAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,187,546 - 44,188,046 (+)MPROMDB
RGD ID:6798588
Promoter ID:HG_KWN:39662
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002XRL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,189,461 - 44,190,662 (+)MPROMDB
RGD ID:13207149
Promoter ID:EPDNEW_H27155
Type:initiation region
Name:CD40_1
Description:CD40 molecule
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
GRCh382046,118,314 - 46,118,374EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001250.6(CD40):c.95TAA[1] (p.Ile33del) microsatellite Hyper-IgM syndrome type 3 [RCV000022450] Chr20:46121863..46121865 [GRCh38]
Chr20:44750502..44750504 [GRCh37]
Chr20:20q13.12
pathogenic
CD40, 455A-T, +5, EX5 single nucleotide variant Hyper-IgM syndrome type 3 [RCV000019324] Chr20:20q12-q13.2 pathogenic
NM_001250.6(CD40):c.257-2A>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000019326] Chr20:46122608 [GRCh38]
Chr20:44751247 [GRCh37]
Chr20:20q13.12
pathogenic
NM_001250.6(CD40):c.247T>C (p.Cys83Arg) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000019325] Chr20:46122349 [GRCh38]
Chr20:44750988 [GRCh37]
Chr20:20q13.12
pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_001250.5(CD40):c.336G>A (p.Thr112=) single nucleotide variant Malignant melanoma [RCV000072660] Chr20:46122689 [GRCh38]
Chr20:44751328 [GRCh37]
Chr20:44184735 [NCBI36]
Chr20:20q13.12
not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
NM_001250.6(CD40):c.750A>G (p.Pro250=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001143076]|not provided [RCV000755895] Chr20:46128956 [GRCh38]
Chr20:44757595 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001000003]|not provided [RCV001512285]|not specified [RCV000434147] Chr20:46128885 [GRCh38]
Chr20:44757524 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.*119C>T single nucleotide variant Immunodeficiency with Hyper-IgM [RCV000360389] Chr20:46129159 [GRCh38]
Chr20:44757798 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.*310C>G single nucleotide variant Hyper-IgM syndrome type 3 [RCV000281478] Chr20:46129350 [GRCh38]
Chr20:44757989 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001000340]|not provided [RCV001519404] Chr20:46122724 [GRCh38]
Chr20:44751363 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.5(CD40):c.-69del deletion Immunodeficiency with Hyper-IgM [RCV000278163]|not provided [RCV000590173] Chr20:46118275 [GRCh38]
Chr20:44746914 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.606C>T (p.Phe202=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001000341]|not provided [RCV001519405] Chr20:46128184 [GRCh38]
Chr20:44756823 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.*316G>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV000331880] Chr20:46129356 [GRCh38]
Chr20:44757995 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) duplication Immunodeficiency with Hyper-IgM [RCV000359391]|not provided [RCV001653636] Chr20:46128304..46128305 [GRCh38]
Chr20:44756943..44756944 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_001250.5(CD40):c.-41C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000312278]|not provided [RCV001541219] Chr20:46118303 [GRCh38]
Chr20:44746942 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.256+8C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000313506] Chr20:46122366 [GRCh38]
Chr20:44751005 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.5(CD40):c.-55C>G single nucleotide variant Hyper-IgM syndrome type 3 [RCV000396470] Chr20:46118289 [GRCh38]
Chr20:44746928 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000261051]|not provided [RCV001718718] Chr20:46129175 [GRCh38]
Chr20:44757814 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.*547A>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000296766] Chr20:46129587 [GRCh38]
Chr20:44758226 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.52-15C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000398260]|not provided [RCV001516524] Chr20:46121805 [GRCh38]
Chr20:44750444 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.*178G>A single nucleotide variant Hyper-IgM syndrome type 3 [RCV000316673] Chr20:46129218 [GRCh38]
Chr20:44757857 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.5(CD40):c.-61G>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000337796] Chr20:46118283 [GRCh38]
Chr20:44746922 [GRCh37]
Chr20:20q13.12
uncertain significance
null single nucleotide variant Hyper-IgM syndrome type 3 [RCV000608869]|not provided [RCV001691965]|not specified [RCV000456068] Chr20:46118343 [GRCh38]
Chr20:44746982 [GRCh37]
Chr20:20q13.12
benign
NM_001250.6(CD40):c.*677G>A single nucleotide variant Hyper-IgM syndrome type 3 [RCV000351638] Chr20:46129717 [GRCh38]
Chr20:44758356 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.339T>C (p.Ser113=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000362967] Chr20:46122692 [GRCh38]
Chr20:44751331 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.*338A>G single nucleotide variant Immunodeficiency with Hyper-IgM [RCV000386141] Chr20:46129378 [GRCh38]
Chr20:44758017 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.*85G>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000324474] Chr20:46129125 [GRCh38]
Chr20:44757764 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.*216A>C single nucleotide variant Immunodeficiency with Hyper-IgM [RCV000375885] Chr20:46129256 [GRCh38]
Chr20:44757895 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.*372A>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138333] Chr20:46129412 [GRCh38]
Chr20:44758051 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.498-4A>T single nucleotide variant not provided [RCV000587791] Chr20:46126636 [GRCh38]
Chr20:44755275 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.498-35TG[4] microsatellite not provided [RCV000586713] Chr20:46126605..46126606 [GRCh38]
Chr20:44755244..44755245 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.381C>T (p.Pro127=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000768171]|not specified [RCV000589953] Chr20:46122734 [GRCh38]
Chr20:44751373 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_001250.6(CD40):c.403+20A>G single nucleotide variant Hyper-IgM syndrome type 3 [RCV001001852]|not provided [RCV001522377]|not specified [RCV000421745] Chr20:46122776 [GRCh38]
Chr20:44751415 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.256+2T>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV001333032]|not specified [RCV000506361] Chr20:46122360 [GRCh38]
Chr20:44750999 [GRCh37]
Chr20:20q13.12
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_001250.6(CD40):c.681C>T (p.Pro227=) single nucleotide variant not provided [RCV000963530] Chr20:46128887 [GRCh38]
Chr20:44757526 [GRCh37]
Chr20:20q13.12
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679529] Chr20:46122467 [GRCh38]
Chr20:44751106 [GRCh37]
Chr20:20q13.12
benign
NM_001250.6(CD40):c.256+7G>A single nucleotide variant not provided [RCV000902653] Chr20:46122365 [GRCh38]
Chr20:44751004 [GRCh37]
Chr20:20q13.12
likely benign
NM_001250.6(CD40):c.444C>T (p.Val148=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141232]|not provided [RCV000927459] Chr20:46123166 [GRCh38]
Chr20:44751805 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_001250.6(CD40):c.57T>C (p.His19=) single nucleotide variant not provided [RCV000922402] Chr20:46121825 [GRCh38]
Chr20:44750464 [GRCh37]
Chr20:20q13.12
likely benign
NM_001250.6(CD40):c.559+36G>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV001284860] Chr20:46126737 [GRCh38]
Chr20:44755376 [GRCh37]
Chr20:20q13.12
benign
NM_001250.6(CD40):c.474C>T (p.Phe158=) single nucleotide variant not specified [RCV000780086] Chr20:46123196 [GRCh38]
Chr20:44751835 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_001250.6(CD40):c.188G>A (p.Gly63Asp) single nucleotide variant not specified [RCV000780087] Chr20:46122290 [GRCh38]
Chr20:44750929 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.397C>T (p.Gln133Ter) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000778635] Chr20:46122750 [GRCh38]
Chr20:44751389 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.717C>T (p.Pro239=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001143075]|not provided [RCV000887191] Chr20:46128923 [GRCh38]
Chr20:44757562 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.610A>G (p.Ile204Val) single nucleotide variant not provided [RCV000788210] Chr20:46128188 [GRCh38]
Chr20:44756827 [GRCh37]
Chr20:20q13.12
uncertain significance
NC_000020.11:g.46118277G>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138235] Chr20:46118277 [GRCh38]
Chr20:44746916 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.*676C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138335] Chr20:46129716 [GRCh38]
Chr20:44758355 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.*560C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138334] Chr20:46129600 [GRCh38]
Chr20:44758239 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.249C>T (p.Cys83=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138656] Chr20:46122351 [GRCh38]
Chr20:44750990 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.379C>T (p.Pro127Ser) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141231] Chr20:46122732 [GRCh38]
Chr20:44751371 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001641843] Chr20:46118447 [GRCh38]
Chr20:44747086 [GRCh37]
Chr20:20q13.12
benign
null single nucleotide variant not provided [RCV001611107] Chr20:46126472 [GRCh38]
Chr20:44755111 [GRCh37]
Chr20:20q13.12
benign
NM_001250.6(CD40):c.675+9C>A single nucleotide variant not provided [RCV000933936] Chr20:46128367 [GRCh38]
Chr20:44757006 [GRCh37]
Chr20:20q13.12
likely benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677337] Chr20:46128252 [GRCh38]
Chr20:44756891 [GRCh37]
Chr20:20q13.12
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) deletion not provided [RCV001659496] Chr20:46128305..46128306 [GRCh38]
Chr20:44756944..44756945 [GRCh37]
Chr20:20q13.12
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638207] Chr20:46128574 [GRCh38]
Chr20:44757213 [GRCh37]
Chr20:20q13.12
benign
NM_000384.3(APOB):c.3122-6G>A single nucleotide variant not provided [RCV001700681] Chr20:46121825 [GRCh38]
Chr20:44750464 [GRCh37]
Chr20:20q13.12
likely benign
null single nucleotide variant not provided [RCV001674418] Chr20:46128768 [GRCh38]
Chr20:44757407 [GRCh37]
Chr20:20q13.12
benign
NM_001250.6(CD40):c.622A>G (p.Ile208Val) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001143074] Chr20:46128200 [GRCh38]
Chr20:44756839 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.498-7T>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141233] Chr20:46126633 [GRCh38]
Chr20:44755272 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_001250.6(CD40):c.621C>T (p.Ala207=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141234]|not provided [RCV001510650] Chr20:46128199 [GRCh38]
Chr20:44756838 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001250.6(CD40):c.311C>T (p.Thr104Ile) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141230] Chr20:46122664 [GRCh38]
Chr20:44751303 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001648866] Chr20:46128269 [GRCh38]
Chr20:44756908 [GRCh37]
Chr20:20q13.12
benign
null single nucleotide variant not provided [RCV001669188] Chr20:46122211 [GRCh38]
Chr20:44750850 [GRCh37]
Chr20:20q13.12
benign
null single nucleotide variant not provided [RCV001710265] Chr20:46118099 [GRCh38]
Chr20:44746738 [GRCh37]
Chr20:20q13.12
benign
null deletion not provided [RCV001615678] Chr20:46128305 [GRCh38]
Chr20:44756944 [GRCh37]
Chr20:20q13.12
benign
Single allele deletion Focal seizures [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic
NM_001250.6(CD40):c.647-3dup duplication Hyper-IgM syndrome type 3 [RCV001420684]|not provided [RCV001655709]|not specified [RCV001264503] Chr20:46128304..46128305 [GRCh38]
Chr20:44756943..44756944 [GRCh37]
Chr20:20q13.12
benign
NM_001250.6(CD40):c.377C>T (p.Ser126Leu) single nucleotide variant not provided [RCV001309400] Chr20:46122730 [GRCh38]
Chr20:44751369 [GRCh37]
Chr20:20q13.12
uncertain significance
null single nucleotide variant not provided [RCV001710829] Chr20:46118465 [GRCh38]
Chr20:44747104 [GRCh37]
Chr20:20q13.12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11919 AgrOrtholog
COSMIC CD40 COSMIC
Ensembl Genes ENSG00000101017 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361350 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361359 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434825 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000484074 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372276 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372285 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000466205 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000620709 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000101017 GTEx
HGNC ID HGNC:11919 ENTREZGENE
Human Proteome Map CD40 Human Proteome Map
InterPro TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFRSF5_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:958 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 958 ENTREZGENE
OMIM 109535 OMIM
  606843 OMIM
Pfam TNFR_c6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36612 PharmGKB
PRINTS TNFACTORR5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNFR_NGFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_NGFR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TNFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1D0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z349 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3C7 ENTREZGENE, UniProtKB/TrEMBL
  H0YE23_HUMAN UniProtKB/TrEMBL
  P25942 ENTREZGENE
  Q6P2H9 ENTREZGENE, UniProtKB/TrEMBL
  TNR5_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E1P5S9 UniProtKB/Swiss-Prot
  Q53GN5 UniProtKB/Swiss-Prot
  Q5JY15 UniProtKB/Swiss-Prot
  Q5U007 UniProtKB/Swiss-Prot
  Q7M4Q8 UniProtKB/Swiss-Prot
  Q86YK5 UniProtKB/Swiss-Prot
  Q9BYU0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CD40  CD40 molecule    CD40 molecule, TNF receptor superfamily member 5  Symbol and/or name change 5135510 APPROVED
2011-08-16 CD40  CD40 molecule, TNF receptor superfamily member 5  CD40  CD40 molecule, TNF receptor superfamily member 5  Symbol and/or name change 5135510 APPROVED