CREB1 (cAMP responsive element binding protein 1) - Rat Genome Database

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Gene: CREB1 (cAMP responsive element binding protein 1) Homo sapiens
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Symbol: CREB1
Name: cAMP responsive element binding protein 1
RGD ID: 730886
HGNC Page HGNC:2345
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; cAMP response element binding activity; and identical protein binding activity. Involved in several processes, including cAMP/PKA signal transduction; cellular response to forskolin; and mRNA transcription by RNA polymerase II. Acts upstream of or within positive regulation of transcription by RNA polymerase II and protein phosphorylation. Located in several cellular components, including euchromatin; microtubule organizing center; and nucleoplasm. Part of ATF4-CREB1 transcription factor complex. Implicated in Parkinson's disease; alcohol dependence; and heroin dependence. Biomarker of Pick's disease; nicotine dependence; and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: active transcription factor CREB; cAMP-response element-binding protein-1; cAMP-responsive element-binding protein 1; CREB; CREB-1; cyclic adenosine 3',5'-monophosphate response element-binding protein CREB; cyclic AMP-responsive element-binding protein 1; MGC9284; transactivator protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100421287   LOC100421288   LOC100421292  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382207,529,962 - 207,605,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2207,529,737 - 207,605,988 (+)Ensemblhg38GRCh38
GRCh372208,394,686 - 208,470,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,102,931 - 208,171,818 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342208,220,191 - 208,289,074NCBI
Celera2202,156,105 - 202,231,803 (+)NCBICelera
Cytogenetic Map2q33.3NCBI
HuRef2200,237,266 - 200,313,048 (+)NCBIHuRef
CHM1_12208,400,466 - 208,476,105 (+)NCBICHM1_1
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
alcohol dependence  (IAGP,ISO)
alcohol use disorder  (ISO)
amnestic disorder  (ISO)
amphetamine abuse  (ISO)
Angiomatoid Fibrous Histiocytoma  (EXP,IAGP)
anxiety disorder  (ISO)
autism spectrum disorder  (ISO)
brain ischemia  (ISO)
cocaine abuse  (ISO)
cocaine dependence  (IAGP,ISO)
Cocaine-Related Disorders  (EXP)
congestive heart failure  (ISO)
depressive disorder  (ISO)
Diabetic Nephropathies  (ISO)
dilated cardiomyopathy  (ISO)
drug dependence  (ISO)
Experimental Liver Cirrhosis  (ISO)
heroin dependence  (IAGP,ISO)
holoprosencephaly  (ISO)
Huntington's disease  (ISO)
hypertension  (ISO)
hypoglycemia  (ISO)
Memory Disorders  (ISO)
metabolic dysfunction-associated steatotic liver disease  (ISO)
middle cerebral artery infarction  (ISO)
morphine dependence  (EXP,ISO)
morphine withdrawal syndrome  (ISO)
myocardial infarction  (EXP)
Neoplasm Metastasis  (EXP)
Neurodevelopmental Disorders  (IAGP)
nicotine dependence  (IEP,ISO)
obsessive-compulsive disorder  (ISO)
opioid abuse  (ISO)
Parkinson's disease  (IDA)
Pick's disease  (IEP)
Postoperative Cognitive Dysfunction  (ISO)
Prenatal Exposure Delayed Effects  (ISO)
primary pulmonary hypertension  (IAGP)
Pulmonary Arterial Hypertension  (ISO)
schizophrenia  (IEP)
sciatic neuropathy  (ISO)
skin melanoma  (EXP)
Spinal Cord Reperfusion Injury  (ISO)
steatotic liver disease  (ISO)
substance dependence  (ISO)
transient cerebral ischemia  (ISO)
vascular dementia  (ISO)
Ventricular Dysfunction, Right  (ISO)
withdrawal disorder  (EXP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(+)-epicatechin-3-O-gallate  (EXP)
(+)-syringaresinol beta-D-glucoside  (ISO)
(-)-anisomycin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(1->4)-beta-D-glucan  (ISO)
(R)-adrenaline  (EXP,ISO)
(R)-lipoic acid  (ISO)
(R)-salsolinol  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-3,5-dihydroxyphenylglycine  (ISO)
(S)-AMPA  (ISO)
(S)-amphetamine  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane  (EXP)
1,2-dichloroethane  (ISO)
1,2-naphthoquinone  (EXP)
1,3-benzothiazole-2-thiol  (EXP)
1,3-dichloropropan-2-ol  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
1-bromopropane  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-fluoro-2,4-dinitrobenzene  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (EXP)
2,4-dinitrobenzenesulfonic acid  (EXP)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methyl-6-(phenylethynyl)pyridine  (EXP,ISO)
2-naphthylamine  (EXP)
23-epi-26-deoxyactein  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5,6-trichloro-2-pyridinol  (ISO)
3,5,6-trichloropyridine-2-one  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-Methoxynobiletin  (ISO)
3-methylcholanthrene  (ISO)
3-nitropropanoic acid  (ISO)
3-phenylprop-2-enal  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-[1-hydroxy-2-[4-(phenylmethyl)-1-piperidinyl]propyl]phenol  (ISO)
4-aminobenzoic acid  (EXP)
4-hydroxynon-2-enal  (EXP)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
8-Br-cAMP  (ISO)
9-cis-retinoic acid  (EXP)
acrolein  (EXP,ISO)
acrylamide  (ISO)
adenosine  (EXP)
Adenosine, cyclic 3',5'-[hydrogen [p(s)]-phosphorothioate]  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
Alisol B  (ISO)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (EXP,ISO)
allethrin  (ISO)
alpha-pinene  (EXP)
alpha-Solamarine  (ISO)
alternariol  (ISO)
AM-251  (ISO)
amino acid  (ISO)
aminoguanidine  (ISO)
ammonium hexachloroplatinate  (EXP)
amphetamine  (ISO)
anandamide  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
antimony(0)  (ISO)
antimycin A  (ISO)
apocynin  (ISO)
arachidonic acid  (ISO)
aripiprazole  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (ISO)
asoxime chloride  (ISO)
aspartame  (ISO)
atenolol  (EXP)
atosiban  (ISO)
Atractylone  (EXP)
atrazine  (ISO)
atropine  (ISO)
baclofen  (ISO)
BAPTA  (EXP)
bathocuproine disulfonic acid  (EXP)
Bay-K-8644  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
berberine  (ISO)
beryllium difluoride  (ISO)
beryllium sulfate  (ISO)
beta-naphthoflavone  (EXP)
betaxolol  (ISO)
bicuculline  (ISO)
bilobalide  (EXP)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
bortezomib  (ISO)
brimonidine tartrate  (ISO)
bucladesine  (EXP,ISO)
buprenorphine  (ISO)
busulfan  (ISO)
butan-1-ol  (ISO)
cabergoline  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP,ISO)
caffeine  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
Calphostin C  (ISO)
cannabidiol  (EXP,ISO)
cannabigerol  (ISO)
capsaicin  (ISO)
carbachol  (ISO)
carbon dioxide  (ISO)
carbon nanotube  (ISO)
casticin  (EXP)
celecoxib  (ISO)
CGS-21680  (ISO)
chaetocin  (ISO)
chlormequat chloride  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
cilostazol  (EXP,ISO)
cisplatin  (EXP,ISO)
citalopram  (ISO)
clozapine  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP,ISO)
cordycepin  (EXP,ISO)
corticosterone  (ISO)
coumarin  (EXP)
crocidolite asbestos  (ISO)
crocin-1  (ISO)
curcumin  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
daidzein  (ISO)
daunorubicin  (EXP)
DDE  (EXP)
DDT  (EXP)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (ISO)
deoxynivalenol  (ISO)
desferrioxamine B  (ISO)
desipramine  (ISO)
dexamethasone  (EXP,ISO)
diallyl disulfide  (ISO)
diarsenic trioxide  (ISO)
diazepam  (ISO)
diazinon  (ISO)
dibenziodolium  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dieldrin  (EXP)
diethylstilbestrol  (ISO)
dimethylarsinous acid  (EXP)
diosmin  (ISO)
dioxygen  (EXP,ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (ISO)
disulfiram  (EXP)
dizocilpine maleate  (EXP,ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
doxycycline  (EXP)
elemental selenium  (EXP,ISO)
emetine  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
Erythropoietin  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
eticlopride(1+)  (ISO)
etoposide  (EXP,ISO)
eugenol  (EXP)
fenvalerate  (ISO)
fisetin  (ISO)
fluoxetine  (ISO)
folic acid  (EXP,ISO)
folpet  (ISO)
formaldehyde  (EXP,ISO)
FR900359  (EXP)
fructose  (ISO)
furan  (ISO)
gallic acid  (EXP)
gallocatechin  (EXP)
Gastrodin  (ISO)
Geniposide  (ISO)
genistein  (ISO)
Ginkgolide C  (EXP)
ginsenoside Rg1  (ISO)
glucagon  (ISO)
glucose  (ISO)
glycidol  (ISO)
glycyrrhizinic acid  (EXP)
glyphosate  (EXP)
GW 1929  (EXP)
GYKI 52466  (ISO)
haloperidol  (ISO)
heroin  (ISO)
hexadecanoic acid  (EXP,ISO)
histamine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
iberiotoxin  (EXP)
icariin  (ISO)
imipramine  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
JTE-013  (EXP)
ketamine  (ISO)
ketoconazole  (EXP,ISO)
KN-93  (ISO)
kojic acid  (ISO)
KT 5823  (EXP)
Kukoamine B  (EXP)
L-methionine  (ISO)
L-mimosine  (ISO)
lanthanum atom  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
lead(II) chloride  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lipoteichoic acid  (ISO)
liraglutide  (ISO)
lithium atom  (ISO)
lithium chloride  (EXP,ISO)
lithium hydride  (ISO)
lithocholic acid  (EXP)
loliolide  (ISO)
losartan  (ISO)
lovastatin  (ISO)
LY294002  (EXP,ISO)
lycopene  (ISO)
maneb  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
Mecamylamine  (ISO)
melatonin  (ISO)
melittin  (ISO)
memantine  (ISO)
menadione  (EXP)
metformin  (ISO)
methamphetamine  (EXP,ISO)
methimazole  (ISO)
methotrexate  (EXP,ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methyl salicylate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
methylphenidate  (ISO)
methylseleninic acid  (EXP)
Mitotane  (EXP)
MK-2206  (ISO)
monosodium L-glutamate  (EXP,ISO)
morphine  (ISO)
mycophenolic acid  (EXP)
N(6)-butyryl-cAMP  (ISO)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP,ISO)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-D-aspartic acid  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
neomycin  (ISO)
nickel sulfate  (EXP,ISO)
nicotine  (EXP,ISO)
nifedipine  (EXP,ISO)
nimodipine  (ISO)
nitroprusside  (ISO)
Nonylphenol  (ISO)
o-anisidine  (EXP)
okadaic acid  (EXP,ISO)
olanzapine  (ISO)
oleuropein  (ISO)
oxaliplatin  (ISO)
oxybenzone  (EXP)
oxycodone  (EXP)
ozone  (EXP)
p-tert-Amylphenol  (EXP)
paclitaxel  (ISO)
Panaxynol  (ISO)
papaverine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
paxilline  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
peroxynitrous acid  (EXP,ISO)
phenobarbital  (ISO)
phenol  (EXP)
phenylarsine oxide  (ISO)
phenylephrine  (ISO)
phenylpropanolamine  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pioglitazone  (ISO)
piperine  (EXP)
pirinixic acid  (ISO)
platycodin D  (EXP)
potassium atom  (ISO)
potassium chloride  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
prasugrel hydrochloride  (ISO)
prazosin  (ISO)
proanthocyanidin  (EXP)
progesterone  (ISO)
propofol  (ISO)
propranolol  (ISO)
prostaglandin E2  (EXP)
puerarin  (ISO)
pyrethrins  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (ISO)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
Ro 31-8220  (EXP,ISO)
roflumilast  (ISO)
rolipram  (ISO)
rotenone  (EXP,ISO)
rubimaillin  (EXP)
ryanodine  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
saroglitazar  (ISO)
SB 203580  (EXP,ISO)
SB 415286  (EXP,ISO)
SCH 23390  (ISO)
SCH772984  (ISO)
scopolamine  (ISO)
selenium atom  (EXP,ISO)
selumetinib  (EXP)
serotonin  (ISO)
sertraline  (ISO)
sevoflurane  (ISO)
sildenafil citrate  (ISO)
simvastatin  (EXP)
sirolimus  (ISO)
SKF 38393  (ISO)
SL-327  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium benzoate  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sphingosine 1-phosphate  (EXP)
staurosporine  (EXP)
streptozocin  (ISO)
sucrose  (ISO)
suramin  (EXP)
suvorexant  (ISO)
T-2 toxin  (ISO)
tacrine  (ISO)
tadalafil  (ISO)
tamibarotene  (EXP)
taurine  (ISO)
tauroursodeoxycholic acid  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
testosterone enanthate  (ISO)
Tetrachlorobisphenol A  (ISO)
tetrachloromethane  (ISO)
tetrodotoxin  (ISO)
thapsigargin  (ISO)
thimerosal  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topiramate  (ISO)
tramadol  (ISO)
tranylcypromine  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
tyrphostin AG 1478  (EXP,ISO)
U-73122  (EXP,ISO)
umbelliferone  (ISO)
urethane  (ISO)
Ursonic acid  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (ISO)
WIN 55212-2  (ISO)
wortmannin  (EXP,ISO)
Xamoterol  (EXP)
xanthohumol  (EXP)
xenon atom  (ISO)
xenon(0)  (ISO)
XL147  (ISO)
Yessotoxin  (EXP)
zebularine  (EXP)
zinc atom  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)
zolpidem  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
axonogenesis  (IEA)
cAMP/PKA signal transduction  (IBA,IDA)
cell differentiation  (IEA,ISO)
cellular response to fatty acid  (IEA,ISO)
cellular response to forskolin  (IDA)
cellular response to growth factor stimulus  (IEA)
cellular response to hepatocyte growth factor stimulus  (IEA)
cellular response to insulin-like growth factor stimulus  (IEA,ISO)
cellular response to leukemia inhibitory factor  (IEA)
cellular response to nerve growth factor stimulus  (IEA,ISO)
cellular response to platelet-derived growth factor stimulus  (IEA,ISO)
cellular response to retinoic acid  (IEA,ISS)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
cellular response to zinc ion  (IEA)
chemotaxis to arachidonate  (IEA,ISO)
circadian rhythm  (IEA,ISO,ISS)
hormone secretion  (IEA)
lactation  (IEA)
lung epithelium development  (IEA)
lung saccule development  (IEA)
mammary gland development  (IEA)
memory  (IEA,ISO)
mRNA transcription by RNA polymerase II  (IDA)
negative regulation of apoptotic process  (IEA,ISS)
negative regulation of gene expression  (IEA,ISO)
negative regulation of transcription by competitive promoter binding  (IDA)
osteoclast differentiation  (IEA)
pituitary gland development  (IEA)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of cardiac muscle tissue development  (IEA)
positive regulation of DNA-templated transcription  (IEA,ISS)
positive regulation of fat cell differentiation  (IEA,ISS)
positive regulation of hormone secretion  (IEA)
positive regulation of lipid biosynthetic process  (IEA,ISS)
positive regulation of long-term synaptic potentiation  (IEA,ISO)
positive regulation of membrane depolarization  (IEA,ISO)
positive regulation of multicellular organism growth  (IEA)
positive regulation of osteoclast differentiation  (IEA)
positive regulation of RNA polymerase II transcription preinitiation complex assembly  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO,ISS)
positive regulation of transforming growth factor beta3 production  (IEA,ISO)
protein phosphorylation  (IDA)
protein stabilization  (IEA,ISS)
regulation of apoptotic process  (IEA,ISO)
regulation of cell size  (IEA)
regulation of DNA-templated transcription  (IEA)
regulation of fibroblast proliferation  (IEA,ISO)
regulation of glial cell proliferation  (IEA,ISO)
regulation of testosterone biosynthetic process  (IEA)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO,NAS)
response to activity  (IEA,ISO)
response to cocaine  (IEA,ISO)
response to dehydroepiandrosterone  (IEA,ISO)
response to erythropoietin  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to glucagon  (IEA,ISS)
response to hypobaric hypoxia  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to L-glutamate  (IEA,ISO)
response to morphine  (IEA,ISO)
response to nicotine  (IEA,ISO)
response to purine-containing compound  (IDA)
response to xenobiotic stimulus  (IEA,ISO)
rhythmic process  (IEA)
secretory granule organization  (IEA)
signal transduction  (TAS)
transcription by RNA polymerase II  (IEA,ISO)
transforming growth factor beta receptor signaling pathway  (IEA,ISO)
type I pneumocyte differentiation  (IEA)
visual learning  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
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60. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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69. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
70. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
71. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
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73. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
74. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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87. [Protective effects of Lovastatin on early diabetic renal tissue and the possible mechanism]. Wang LH, etal., Wei Sheng Yan Jiu. 2005 Jan;34(1):70-3.
88. p-CREB-1 promotes hepatic fibrosis through the transactivation of transforming growth factor-β1 expression in rats. Wang P, etal., Int J Mol Med. 2016 Aug;38(2):521-8. doi: 10.3892/ijmm.2016.2630. Epub 2016 Jun 8.
89. Extinction of aversive memories associated with morphine withdrawal requires ERK-mediated epigenetic regulation of brain-derived neurotrophic factor transcription in the rat ventromedial prefrontal cortex. Wang WS, etal., J Neurosci. 2012 Oct 3;32(40):13763-75. doi: 10.1523/JNEUROSCI.1991-12.2012.
90. Dexmedetomidine promotes the recovery of neurogenesis in aged mouse with postoperative cognitive dysfunction. Wang WX, etal., Neurosci Lett. 2018 Jun 11;677:110-116. doi: 10.1016/j.neulet.2018.03.043. Epub 2018 Mar 20.
91. Sinomenine alleviates dorsal root ganglia inflammation to inhibit neuropathic pain via the p38 MAPK/CREB signalling pathway. Wang X, etal., Eur J Pharmacol. 2021 Apr 15;897:173945. doi: 10.1016/j.ejphar.2021.173945. Epub 2021 Feb 14.
92. Modulation of sphingosine 1-phosphate (S1P) attenuates spatial learning and memory impairments in the valproic acid rat model of autism. Wu H, etal., Psychopharmacology (Berl). 2018 Mar;235(3):873-886. doi: 10.1007/s00213-017-4805-4. Epub 2017 Dec 7.
93. κ Opioid Receptor Agonist Inhibits Myocardial Injury in Heart Failure Rats through Activating Nrf2/HO-1 Pathway and Regulating Ca2+-SERCA2a. Wu T, etal., Oxid Med Cell Longev. 2021 Jul 30;2021:7328437. doi: 10.1155/2021/7328437. eCollection 2021.
94. Tau hyperphosphorylation and P-CREB reduction are involved in acrylamide-induced spatial memory impairment: Suppression by curcumin. Yan D, etal., Brain Behav Immun. 2018 Jul;71:66-80. doi: 10.1016/j.bbi.2018.04.014. Epub 2018 Apr 26.
95. The Potential Role of PKA/CREB Signaling Pathway Concerned with Gastrodin Administration on Methamphetamine-Induced Conditioned Place Preference Rats and SH-SY5Y Cell Line. Yang GM, etal., Neurotox Res. 2020 Apr;37(4):926-935. doi: 10.1007/s12640-019-00150-7. Epub 2020 Jan 4.
96. Alterations of postsynaptic density proteins in the hippocampus of rat offspring from the morphine-addicted mother: Beneficial effect of dextromethorphan. Yang SN, etal., Hippocampus. 2006;16(6):521-30. doi: 10.1002/hipo.20179.
97. Adolescent alcohol exposure epigenetically regulates CREB signaling in the adult amygdala. Zhang H, etal., Sci Rep. 2018 Jul 10;8(1):10376. doi: 10.1038/s41598-018-28415-9.
98. Blockade of Cannabinoid CB1 receptor attenuates the acquisition of morphine-induced conditioned place preference along with a downregulation of ERK, CREB phosphorylation, and BDNF expression in the nucleus accumbens and hippocampus. Zhang J, etal., Neurosci Lett. 2016 Sep 6;630:70-76. doi: 10.1016/j.neulet.2016.07.047. Epub 2016 Jul 25.
99. Nobiletin protects against cerebral ischemia via activating the p-Akt, p-CREB, BDNF and Bcl-2 pathway and ameliorating BBB permeability in rat. Zhang L, etal., Brain Res Bull. 2013 Jul;96:45-53. doi: 10.1016/j.brainresbull.2013.04.009. Epub 2013 May 2.
100. Effects of morphine-dependent and withdrawal on activation of the distal cerebrospinal fluid contacting neurons' phosphorylation CREB in rat brain. Zhang L, etal., Neurol Res. 2009 Sep;31(7):738-42. doi: 10.1179/174313209X382386. Epub 2008 Dec 23.
101. [Effect of manual acupuncture on expression of BDNF/TrkB/ERK/CREB signaling in infarcted tissue of cerebral ischemia rats]. Zhong LY, etal., Zhen Ci Yan Jiu. 2022 Feb 25;47(2):135-40. doi: 10.13702/j.1000-0607.20210048.
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PMID:16799563   PMID:16820098   PMID:16822311   PMID:16896160   PMID:16920714   PMID:16963449   PMID:16978443   PMID:16980615   PMID:17082618   PMID:17169345   PMID:17202341   PMID:17209043  
PMID:17276404   PMID:17289023   PMID:17300755   PMID:17310988   PMID:17389598   PMID:17426037   PMID:17449469   PMID:17455223   PMID:17460549   PMID:17476304   PMID:17507637   PMID:17548750  
PMID:17565597   PMID:17565598   PMID:17565599   PMID:17565603   PMID:17573727   PMID:17592483   PMID:17646388   PMID:17661722   PMID:17707401   PMID:17712720   PMID:17724745   PMID:17727817  
PMID:17786359   PMID:17805329   PMID:17822787   PMID:17827388   PMID:17889508   PMID:17909078   PMID:17962194   PMID:17975014   PMID:18022816   PMID:18024382   PMID:18029348   PMID:18034423  
PMID:18070920   PMID:18160048   PMID:18189280   PMID:18191017   PMID:18287226   PMID:18316612   PMID:18375384   PMID:18396147   PMID:18457359   PMID:18483184   PMID:18485898   PMID:18511806  
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PMID:32694731   PMID:32710193   PMID:32712449   PMID:32729158   PMID:32809092   PMID:32812343   PMID:32814053   PMID:32873793   PMID:33000695   PMID:33040080   PMID:33111431   PMID:33125147  
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PMID:35140242   PMID:35199941   PMID:35256949   PMID:35696016   PMID:35708784   PMID:35831314   PMID:35944360   PMID:35987950   PMID:36066360   PMID:36305789   PMID:36373674   PMID:36380368  
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PMID:38580884   PMID:38597450   PMID:38599542   PMID:38824257   PMID:38902472   PMID:39007896   PMID:39189982   PMID:39617063  


Genomics

Comparative Map Data
CREB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382207,529,962 - 207,605,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2207,529,737 - 207,605,988 (+)Ensemblhg38GRCh38
GRCh372208,394,686 - 208,470,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,102,931 - 208,171,818 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342208,220,191 - 208,289,074NCBI
Celera2202,156,105 - 202,231,803 (+)NCBICelera
Cytogenetic Map2q33.3NCBI
HuRef2200,237,266 - 200,313,048 (+)NCBIHuRef
CHM1_12208,400,466 - 208,476,105 (+)NCBICHM1_1
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBIT2T-CHM13v2.0
Creb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,571,963 - 64,643,707 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,571,804 - 64,643,707 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38164,532,794 - 64,604,548 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,532,645 - 64,604,548 (+)Ensemblmm10GRCm38
MGSCv37164,579,378 - 64,651,122 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36164,467,080 - 64,538,824 (+)NCBIMGSCv36mm8
Celera165,034,311 - 65,105,954 (+)NCBICelera
Cytogenetic Map1C2NCBI
cM Map132.74NCBI
Creb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8973,397,333 - 73,466,339 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl973,397,306 - 73,466,339 (+)EnsemblGRCr8
mRatBN7.2965,903,511 - 65,972,562 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl965,903,547 - 65,970,816 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx974,423,783 - 74,487,123 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0979,554,383 - 79,617,717 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0977,958,854 - 78,022,149 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0971,229,753 - 71,298,994 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl971,230,108 - 71,293,435 (+)Ensemblrn6Rnor6.0
Rnor_5.0971,277,171 - 71,346,198 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4963,170,785 - 63,234,727 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera963,310,784 - 63,374,139 (+)NCBICelera
RGSC_v3.1963,317,766 - 63,381,709 (+)NCBI
Cytogenetic Map9q32NCBI
Creb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554577,431,736 - 7,491,149 (-)Ensembl
ChiLan1.0NW_0049554577,424,403 - 7,490,630 (-)NCBIChiLan1.0ChiLan1.0
CREB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213110,136,747 - 110,210,159 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B110,151,726 - 110,225,138 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B94,762,796 - 94,836,304 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B212,891,261 - 212,963,584 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B212,891,261 - 212,958,130 (+)EnsemblpanPan2panpan1.1
CREB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13715,921,214 - 15,978,492 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3715,939,138 - 15,977,556 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3716,804,994 - 16,867,966 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03715,856,953 - 15,919,649 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3715,856,946 - 15,919,150 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13715,802,749 - 15,865,587 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03715,775,840 - 15,838,520 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03715,785,052 - 15,847,761 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Creb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303164,086,248 - 164,150,269 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366313,721,313 - 3,780,892 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366313,721,307 - 3,785,346 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CREB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15110,705,496 - 110,771,728 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.115110,705,548 - 110,773,037 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215122,245,218 - 122,278,060 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CREB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11093,316,774 - 93,395,187 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1093,316,840 - 93,388,832 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666040105,980,378 - 106,058,783 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Creb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247658,374,160 - 8,436,969 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in CREB1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004379.5(CREB1):c.305A>G (p.Asp102Gly) single nucleotide variant Variant of unknown significance [RCV000022519] Chr2:207567506 [GRCh38]
Chr2:208432230 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 copy number loss See cases [RCV000139629] Chr2:204906843..210031449 [GRCh38]
Chr2:205771566..210896173 [GRCh37]
Chr2:205479811..210604418 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 copy number loss See cases [RCV000139325] Chr2:207058886..211245603 [GRCh38]
Chr2:207923610..212110328 [GRCh37]
Chr2:207631855..211818573 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
NM_004379.5(CREB1):c.137C>G (p.Ala46Gly) single nucleotide variant not specified [RCV004317892] Chr2:207560248 [GRCh38]
Chr2:208424972 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_004379.5(CREB1):c.582C>G (p.Thr194=) single nucleotide variant not provided [RCV000948616] Chr2:207575348 [GRCh38]
Chr2:208440072 [GRCh37]
Chr2:2q33.3		 benign
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_004379.5(CREB1):c.216G>A (p.Ala72=) single nucleotide variant not provided [RCV000892536] Chr2:207560327 [GRCh38]
Chr2:208425051 [GRCh37]
Chr2:2q33.3		 benign
NM_004379.5(CREB1):c.573A>G (p.Gln191=) single nucleotide variant not provided [RCV000903719] Chr2:207575339 [GRCh38]
Chr2:208440063 [GRCh37]
Chr2:2q33.3		 benign
NM_004379.5(CREB1):c.943C>T (p.Leu315=) single nucleotide variant not provided [RCV000903720] Chr2:207597017 [GRCh38]
Chr2:208461741 [GRCh37]
Chr2:2q33.3		 benign
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004379.5(CREB1):c.243A>G (p.Pro81=) single nucleotide variant not provided [RCV000890959] Chr2:207560354 [GRCh38]
Chr2:208425078 [GRCh37]
Chr2:2q33.3		 likely benign
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
NM_004379.5(CREB1):c.442G>A (p.Ala148Thr) single nucleotide variant not specified [RCV004219312] Chr2:207570258 [GRCh38]
Chr2:208434982 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.781C>A (p.Pro261Thr) single nucleotide variant not specified [RCV004127851] Chr2:207577597 [GRCh38]
Chr2:208442321 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.448G>T (p.Ala150Ser) single nucleotide variant not specified [RCV004109095] Chr2:207570264 [GRCh38]
Chr2:208434988 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.527C>A (p.Ala176Glu) single nucleotide variant not specified [RCV004161495] Chr2:207575293 [GRCh38]
Chr2:208440017 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.67C>G (p.Gln23Glu) single nucleotide variant not specified [RCV004208712] Chr2:207555702 [GRCh38]
Chr2:208420426 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 copy number loss not specified [RCV003986210] Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_004379.5(CREB1):c.137C>T (p.Ala46Val) single nucleotide variant not specified [RCV004367181] Chr2:207560248 [GRCh38]
Chr2:208424972 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.775G>A (p.Ala259Thr) single nucleotide variant not specified [RCV004367182] Chr2:207577591 [GRCh38]
Chr2:208442315 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.853G>A (p.Glu285Lys) single nucleotide variant Angiomatoid fibrous histiocytoma [RCV005030853] Chr2:207596927 [GRCh38]
Chr2:208461651 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.478A>G (p.Ile160Val) single nucleotide variant not specified [RCV004913009] Chr2:207570294 [GRCh38]
Chr2:208435018 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
NM_004379.5(CREB1):c.89A>G (p.Gln30Arg) single nucleotide variant not specified [RCV004314864] Chr2:207555724 [GRCh38]
Chr2:208420448 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_004379.5(CREB1):c.22G>A (p.Glu8Lys) single nucleotide variant not specified [RCV004260413] Chr2:207555657 [GRCh38]
Chr2:208420381 [GRCh37]
Chr2:2q33.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Bhsa-miR-200b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23543137
MIR200Bhsa-miR-200b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23546867
MIR203Ahsa-miR-203aMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI21707582
MIR182hsa-miR-182-5pMirtarbaseexternal_infoGFP reporter assayFunctional MTI22325466
MIR181B2hsa-miR-181b-5pOncomiRDBexternal_infoNANA22539488
MIR203Ahsa-miR-203aOncomiRDBexternal_infoNANA21707582
MIR181B1hsa-miR-181b-5pOncomiRDBexternal_infoNANA22539488
MIR34Bhsa-miR-34b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19258499
MIR34Bhsa-miR-34b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19461653
MIR34Bhsa-miR-34b-5pOncomiRDBexternal_infoNANA19258499
MIR182hsa-miR-182-5pOncomiRDBexternal_infoNANA22325466

Predicted Target Of
Summary Value
Count of predictions:6911
Count of miRNA genes:1281
Interacting mature miRNAs:1669
Transcripts:ENST00000353267, ENST00000374397, ENST00000414681, ENST00000418081, ENST00000421139, ENST00000430624, ENST00000432329, ENST00000445803, ENST00000448277, ENST00000452474, ENST00000455757, ENST00000457101, ENST00000464407, ENST00000480189, ENST00000494094, ENST00000494983, ENST00000536726, ENST00000539789
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597198297GWAS1294371_Hsystolic blood pressure QTL GWAS1294371 (human)8e-23arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2207564627207564628Human
407000737GWAS649713_Hdiastolic blood pressure QTL GWAS649713 (human)0.0000001arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)2207544615207544616Human
597273744GWAS1369818_Hsystolic blood pressure QTL GWAS1369818 (human)1e-14arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2207538026207538027Human
407002636GWAS651612_Hsystolic blood pressure QTL GWAS651612 (human)2e-08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2207544615207544616Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human
597052409GWAS1148483_Hsystolic blood pressure QTL GWAS1148483 (human)1e-12arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2207564627207564628Human
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
597255817GWAS1351891_Htotal cholesterol measurement QTL GWAS1351891 (human)2e-12blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)2207564627207564628Human
597097383GWAS1193457_Htestosterone measurement QTL GWAS1193457 (human)7e-09blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)2207545543207545544Human
597097636GWAS1193710_Hsex hormone-binding globulin measurement QTL GWAS1193710 (human)9e-16sex hormone-binding globulin measurement2207538026207538027Human
406992465GWAS641441_Hmean corpuscular hemoglobin concentration QTL GWAS641441 (human)8e-12erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)2207541168207541169Human
597098373GWAS1194447_Hsex hormone-binding globulin measurement QTL GWAS1194447 (human)3e-15sex hormone-binding globulin measurement2207538026207538027Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
597272301GWAS1368375_Htotal cholesterol measurement QTL GWAS1368375 (human)1e-08blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)2207561533207561534Human
597460587GWAS1556661_Hdiastolic blood pressure QTL GWAS1556661 (human)2e-15arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)2207538026207538027Human
597307939GWAS1404013_Hplatelet count QTL GWAS1404013 (human)7e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)2207544024207544025Human
597201186GWAS1297260_Hdiastolic blood pressure QTL GWAS1297260 (human)1e-16arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)2207564627207564628Human
597449958GWAS1546032_Hsystolic blood pressure QTL GWAS1546032 (human)1e-19arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2207538026207538027Human
597141420GWAS1237494_Hneuroimaging measurement QTL GWAS1237494 (human)0.000008nervous system morphology trait (VT:0003632)2207561533207561534Human
407009342GWAS658318_Hmean corpuscular hemoglobin QTL GWAS658318 (human)9e-10erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)2207541168207541169Human
597134729GWAS1230803_Hpulse pressure measurement QTL GWAS1230803 (human)1e-13arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)2207564627207564628Human

Markers in Region
D2S2634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,461,869 - 208,461,970UniSTSGRCh37
Build 362208,170,114 - 208,170,215RGDNCBI36
Celera2202,223,392 - 202,223,493RGD
Cytogenetic Map2q34UniSTS
HuRef2200,304,633 - 200,304,734UniSTS
Whitehead-YAC Contig Map2 UniSTS
CREB1_1411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,462,063 - 208,462,937UniSTSGRCh37
Build 362208,170,308 - 208,171,182RGDNCBI36
Celera2202,223,586 - 202,224,460RGD
HuRef2200,304,827 - 200,305,701UniSTS
RH67919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,462,432 - 208,462,528UniSTSGRCh37
Build 362208,170,677 - 208,170,773RGDNCBI36
Celera2202,223,955 - 202,224,051RGD
Cytogenetic Map2q34UniSTS
HuRef2200,305,196 - 200,305,292UniSTS
GeneMap99-GB4 RH Map2641.85UniSTS
SGC35219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,469,162 - 208,469,292UniSTSGRCh37
Build 362208,177,407 - 208,177,537RGDNCBI36
Celera2202,230,685 - 202,230,811RGD
Cytogenetic Map2q34UniSTS
HuRef2200,311,930 - 200,312,056UniSTS
GeneMap99-GB4 RH Map2643.47UniSTS
Whitehead-RH Map2970.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2246 4945 1724 2347 5 622 1949 464 2268 7286 6458 52 3710 849 1736 1614 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_134442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW205606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY347527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU154326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS542417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC366797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY204508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X60003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000353267   ⟹   ENSP00000236995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,529,962 - 207,605,988 (+)Ensembl
Ensembl Acc Id: ENST00000414681   ⟹   ENSP00000404890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,550,261 - 207,560,348 (+)Ensembl
Ensembl Acc Id: ENST00000418081   ⟹   ENSP00000412016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,560,314 - 207,596,949 (+)Ensembl
Ensembl Acc Id: ENST00000421139   ⟹   ENSP00000403678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,529,940 - 207,577,631 (+)Ensembl
Ensembl Acc Id: ENST00000430624   ⟹   ENSP00000405539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,529,737 - 207,597,789 (+)Ensembl
Ensembl Acc Id: ENST00000432329   ⟹   ENSP00000387699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,529,892 - 207,603,431 (+)Ensembl
Ensembl Acc Id: ENST00000445803   ⟹   ENSP00000407227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,529,923 - 207,570,321 (+)Ensembl
Ensembl Acc Id: ENST00000446449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,597,165 - 207,599,182 (+)Ensembl
Ensembl Acc Id: ENST00000448277   ⟹   ENSP00000405711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,559,188 - 207,596,949 (+)Ensembl
Ensembl Acc Id: ENST00000451164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,597,348 - 207,599,756 (+)Ensembl
Ensembl Acc Id: ENST00000452474   ⟹   ENSP00000392428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,530,104 - 207,567,556 (+)Ensembl
Ensembl Acc Id: ENST00000455757   ⟹   ENSP00000401803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,575,286 - 207,578,065 (+)Ensembl
Ensembl Acc Id: ENST00000457101   ⟹   ENSP00000391125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,559,226 - 207,570,288 (+)Ensembl
Ensembl Acc Id: ENST00000464407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,559,171 - 207,568,150 (+)Ensembl
Ensembl Acc Id: ENST00000480189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,559,122 - 207,571,777 (+)Ensembl
Ensembl Acc Id: ENST00000494094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,530,072 - 207,567,710 (+)Ensembl
Ensembl Acc Id: ENST00000494983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,576,636 - 207,597,458 (+)Ensembl
RefSeq Acc Id: NM_001320793   ⟹   NP_001307722
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,576,925 (+)NCBI
CHM1_12208,400,466 - 208,447,482 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,050,940 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371426   ⟹   NP_001358355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371427   ⟹   NP_001358356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371428   ⟹   NP_001358357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,559,122 - 207,605,988 (+)NCBI
T2T-CHM13v2.02208,033,121 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004379   ⟹   NP_004370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
GRCh372208,394,616 - 208,470,284 (+)ENTREZGENE
Build 362208,102,931 - 208,171,818 (+)NCBI Archive
HuRef2200,237,266 - 200,313,048 (+)ENTREZGENE
CHM1_12208,400,466 - 208,476,534 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: NM_134442   ⟹   NP_604391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
GRCh372208,394,616 - 208,470,284 (+)ENTREZGENE
Build 362208,102,931 - 208,171,818 (+)NCBI Archive
HuRef2200,237,266 - 200,313,048 (+)ENTREZGENE
CHM1_12208,400,466 - 208,476,534 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135473
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
CHM1_12208,400,466 - 208,476,534 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: NR_163946
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: NR_163947
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510646   ⟹   XP_011508948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510648   ⟹   XP_011508950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,584,247 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510650   ⟹   XP_011508952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,559,122 - 207,605,988 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003399   ⟹   XP_016858888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,584,247 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003401   ⟹   XP_016858890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,576,631 - 207,605,988 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443435   ⟹   XP_047299391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,550,354 - 207,605,988 (+)NCBI
RefSeq Acc Id: XM_047443436   ⟹   XP_047299392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
RefSeq Acc Id: XM_047443437   ⟹   XP_047299393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,605,988 (+)NCBI
RefSeq Acc Id: XM_047443438   ⟹   XP_047299394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,584,247 (+)NCBI
RefSeq Acc Id: XM_047443439   ⟹   XP_047299395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,577,224 (+)NCBI
RefSeq Acc Id: XM_047443440   ⟹   XP_047299396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,577,585 (+)NCBI
RefSeq Acc Id: XM_047443441   ⟹   XP_047299397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,577,221 (+)NCBI
RefSeq Acc Id: XM_047443442   ⟹   XP_047299398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,573,293 (+)NCBI
RefSeq Acc Id: XM_047443443   ⟹   XP_047299399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,573,293 (+)NCBI
RefSeq Acc Id: XM_047443444   ⟹   XP_047299400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,560,269 - 207,605,988 (+)NCBI
RefSeq Acc Id: XM_054340613   ⟹   XP_054196588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,018,214 - 208,080,006 (+)NCBI
RefSeq Acc Id: XM_054340614   ⟹   XP_054196589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
RefSeq Acc Id: XM_054340615   ⟹   XP_054196590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
RefSeq Acc Id: XM_054340616   ⟹   XP_054196591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,080,006 (+)NCBI
RefSeq Acc Id: XM_054340617   ⟹   XP_054196592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,061,111 (+)NCBI
RefSeq Acc Id: XM_054340618   ⟹   XP_054196593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,061,111 (+)NCBI
RefSeq Acc Id: XM_054340619   ⟹   XP_054196594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,033,121 - 208,080,006 (+)NCBI
RefSeq Acc Id: XM_054340620   ⟹   XP_054196595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,061,111 (+)NCBI
RefSeq Acc Id: XM_054340621   ⟹   XP_054196596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,051,239 (+)NCBI
RefSeq Acc Id: XM_054340622   ⟹   XP_054196597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,051,600 (+)NCBI
RefSeq Acc Id: XM_054340623   ⟹   XP_054196598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,051,236 (+)NCBI
RefSeq Acc Id: XM_054340624   ⟹   XP_054196599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,049,280 (+)NCBI
RefSeq Acc Id: XM_054340625   ⟹   XP_054196600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,003,958 - 208,049,280 (+)NCBI
RefSeq Acc Id: XM_054340626   ⟹   XP_054196601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,034,268 - 208,080,006 (+)NCBI
RefSeq Acc Id: XM_054340627   ⟹   XP_054196602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,050,646 - 208,080,006 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001307722 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358355 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358356 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358357 (Get FASTA)   NCBI Sequence Viewer  
  NP_004370 (Get FASTA)   NCBI Sequence Viewer  
  NP_604391 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508948 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508950 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508952 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858888 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858890 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299391 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299392 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299393 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299394 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299395 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299396 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299397 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299398 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299399 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299400 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196588 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196589 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196590 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196591 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196592 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196593 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196594 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196595 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196596 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196597 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196598 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196599 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196600 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196601 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196602 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35715 (Get FASTA)   NCBI Sequence Viewer  
  AAA35716 (Get FASTA)   NCBI Sequence Viewer  
  AAA35717 (Get FASTA)   NCBI Sequence Viewer  
  AAB20597 (Get FASTA)   NCBI Sequence Viewer  
  AAB21254 (Get FASTA)   NCBI Sequence Viewer  
  AAB29985 (Get FASTA)   NCBI Sequence Viewer  
  AAB34949 (Get FASTA)   NCBI Sequence Viewer  
  AAB34950 (Get FASTA)   NCBI Sequence Viewer  
  AAD13869 (Get FASTA)   NCBI Sequence Viewer  
  AAH10636 (Get FASTA)   NCBI Sequence Viewer  
  AAH95407 (Get FASTA)   NCBI Sequence Viewer  
  AAQ24858 (Get FASTA)   NCBI Sequence Viewer  
  AAV38316 (Get FASTA)   NCBI Sequence Viewer  
  AAX88961 (Get FASTA)   NCBI Sequence Viewer  
  AAX93174 (Get FASTA)   NCBI Sequence Viewer  
  BAG35615 (Get FASTA)   NCBI Sequence Viewer  
  BAG37655 (Get FASTA)   NCBI Sequence Viewer  
  BAH12862 (Get FASTA)   NCBI Sequence Viewer  
  BAH13677 (Get FASTA)   NCBI Sequence Viewer  
  CAA39151 (Get FASTA)   NCBI Sequence Viewer  
  CAA42620 (Get FASTA)   NCBI Sequence Viewer  
  CAG28545 (Get FASTA)   NCBI Sequence Viewer  
  CAM91158 (Get FASTA)   NCBI Sequence Viewer  
  EAW70405 (Get FASTA)   NCBI Sequence Viewer  
  EAW70406 (Get FASTA)   NCBI Sequence Viewer  
  EAW70407 (Get FASTA)   NCBI Sequence Viewer  
  EAW70408 (Get FASTA)   NCBI Sequence Viewer  
  EAW70409 (Get FASTA)   NCBI Sequence Viewer  
  EAW70410 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000236995
  ENSP00000236995.3
  ENSP00000387699
  ENSP00000387699.2
  ENSP00000405539
  ENSP00000405539.1
  ENSP00000405711
  ENSP00000407227
GenBank Protein P16220 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_604391   ⟸   NM_134442
- Peptide Label: isoform B
- UniProtKB: Q5U0J5 (UniProtKB/TrEMBL),   A0A024R401 (UniProtKB/TrEMBL),   Q4ZG78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004370   ⟸   NM_004379
- Peptide Label: isoform A
- UniProtKB: Q6V963 (UniProtKB/Swiss-Prot),   P21934 (UniProtKB/Swiss-Prot),   Q9UMA7 (UniProtKB/Swiss-Prot),   P16220 (UniProtKB/Swiss-Prot),   Q53X93 (UniProtKB/TrEMBL),   A0A024R437 (UniProtKB/TrEMBL),   Q4ZG78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508948   ⟸   XM_011510646
- Peptide Label: isoform X2
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508950   ⟸   XM_011510648
- Peptide Label: isoform X4
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508952   ⟸   XM_011510650
- Peptide Label: isoform X5
- UniProtKB: C9J896 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307722   ⟸   NM_001320793
- Peptide Label: isoform C
- UniProtKB: B7Z5C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858888   ⟸   XM_017003399
- Peptide Label: isoform X6
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858890   ⟸   XM_017003401
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: NP_001358355   ⟸   NM_001371426
- Peptide Label: isoform B
- UniProtKB: A0A024R401 (UniProtKB/TrEMBL),   Q5U0J5 (UniProtKB/TrEMBL),   Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358356   ⟸   NM_001371427
- Peptide Label: isoform A
- UniProtKB: Q6V963 (UniProtKB/Swiss-Prot),   P21934 (UniProtKB/Swiss-Prot),   P16220 (UniProtKB/Swiss-Prot),   Q9UMA7 (UniProtKB/Swiss-Prot),   A0A024R437 (UniProtKB/TrEMBL),   Q53X93 (UniProtKB/TrEMBL),   Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358357   ⟸   NM_001371428
- Peptide Label: isoform D
- UniProtKB: C9J896 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000392428   ⟸   ENST00000452474
Ensembl Acc Id: ENSP00000404890   ⟸   ENST00000414681
Ensembl Acc Id: ENSP00000401803   ⟸   ENST00000455757
Ensembl Acc Id: ENSP00000412016   ⟸   ENST00000418081
Ensembl Acc Id: ENSP00000391125   ⟸   ENST00000457101
Ensembl Acc Id: ENSP00000405539   ⟸   ENST00000430624
Ensembl Acc Id: ENSP00000407227   ⟸   ENST00000445803
Ensembl Acc Id: ENSP00000236995   ⟸   ENST00000353267
Ensembl Acc Id: ENSP00000387699   ⟸   ENST00000432329
Ensembl Acc Id: ENSP00000405711   ⟸   ENST00000448277
Ensembl Acc Id: ENSP00000403678   ⟸   ENST00000421139
RefSeq Acc Id: XP_047299393   ⟸   XM_047443437
- Peptide Label: isoform X3
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299392   ⟸   XM_047443436
- Peptide Label: isoform X3
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299394   ⟸   XM_047443438
- Peptide Label: isoform X4
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299396   ⟸   XM_047443440
- Peptide Label: isoform X7
- UniProtKB: B7Z5C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299395   ⟸   XM_047443439
- Peptide Label: isoform X7
- UniProtKB: B7Z5C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299397   ⟸   XM_047443441
- Peptide Label: isoform X8
- UniProtKB: B7Z5C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299398   ⟸   XM_047443442
- Peptide Label: isoform X9
- UniProtKB: E7EWP8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299399   ⟸   XM_047443443
- Peptide Label: isoform X10
- UniProtKB: E7EWP8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299391   ⟸   XM_047443435
- Peptide Label: isoform X1
- UniProtKB: A0A024R401 (UniProtKB/TrEMBL),   Q5U0J5 (UniProtKB/TrEMBL),   Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299400   ⟸   XM_047443444
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054196589   ⟸   XM_054340614
- Peptide Label: isoform X2
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196591   ⟸   XM_054340616
- Peptide Label: isoform X3
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196590   ⟸   XM_054340615
- Peptide Label: isoform X3
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196592   ⟸   XM_054340617
- Peptide Label: isoform X4
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196595   ⟸   XM_054340620
- Peptide Label: isoform X6
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196593   ⟸   XM_054340618
- Peptide Label: isoform X4
- UniProtKB: Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196597   ⟸   XM_054340622
- Peptide Label: isoform X7
- UniProtKB: B7Z5C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196596   ⟸   XM_054340621
- Peptide Label: isoform X7
- UniProtKB: B7Z5C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196598   ⟸   XM_054340623
- Peptide Label: isoform X8
- UniProtKB: B7Z5C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196599   ⟸   XM_054340624
- Peptide Label: isoform X9
- UniProtKB: E7EWP8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196600   ⟸   XM_054340625
- Peptide Label: isoform X10
- UniProtKB: E7EWP8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196588   ⟸   XM_054340613
- Peptide Label: isoform X1
- UniProtKB: A0A024R401 (UniProtKB/TrEMBL),   Q5U0J5 (UniProtKB/TrEMBL),   Q4ZG78 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196594   ⟸   XM_054340619
- Peptide Label: isoform X5
- UniProtKB: C9J896 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196601   ⟸   XM_054340626
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054196602   ⟸   XM_054340627
- Peptide Label: isoform X12
Protein Domains
bZIP   KID

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16220-F1-model_v2 AlphaFold P16220 1-327 view protein structure

Promoters
RGD ID:6862646
Promoter ID:EPDNEW_H4488
Type:initiation region
Name:CREB1_3
Description:cAMP responsive element binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4489  EPDNEW_H4490  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,126 - 207,529,186EPDNEW
RGD ID:6862648
Promoter ID:EPDNEW_H4489
Type:initiation region
Name:CREB1_1
Description:cAMP responsive element binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4488  EPDNEW_H4490  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,529,962 - 207,530,022EPDNEW
RGD ID:6862650
Promoter ID:EPDNEW_H4490
Type:initiation region
Name:CREB1_2
Description:cAMP responsive element binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4488  EPDNEW_H4489  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,530,101 - 207,530,161EPDNEW
RGD ID:6797020
Promoter ID:HG_KWN:36914
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:ENST00000374397,   NM_004379,   NM_134442,   OTTHUMT00000337070,   OTTHUMT00000337071,   OTTHUMT00000337072,   OTTHUMT00000337073,   OTTHUMT00000337074,   OTTHUMT00000337075
Position:
Human AssemblyChrPosition (strand)Source
Build 362208,102,501 - 208,103,092 (+)MPROMDB
RGD ID:6797022
Promoter ID:HG_KWN:36916
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000337077,   OTTHUMT00000337078,   OTTHUMT00000337079,   OTTHUMT00000337080
Position:
Human AssemblyChrPosition (strand)Source
Build 362208,131,891 - 208,132,391 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2345 AgrOrtholog
COSMIC CREB1 COSMIC
Ensembl Genes ENSG00000118260 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000353267 ENTREZGENE
  ENST00000353267.8 UniProtKB/Swiss-Prot
  ENST00000430624 ENTREZGENE
  ENST00000430624.5 UniProtKB/Swiss-Prot
  ENST00000432329 ENTREZGENE
  ENST00000432329.6 UniProtKB/Swiss-Prot
  ENST00000445803 ENTREZGENE
  ENST00000448277 ENTREZGENE
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
GTEx ENSG00000118260 GTEx
HGNC ID HGNC:2345 ENTREZGENE
Human Proteome Map CREB1 Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot
  bZIP_sf UniProtKB/Swiss-Prot
  Coactivator_CBP_pKID UniProtKB/Swiss-Prot
  Leuzip_CREB UniProtKB/Swiss-Prot
KEGG Report hsa:1385 UniProtKB/Swiss-Prot
NCBI Gene 1385 ENTREZGENE
OMIM 123810 OMIM
PANTHER PTHR45879 UniProtKB/Swiss-Prot
  PTHR45879:SF1 UniProtKB/Swiss-Prot
Pfam bZIP_1 UniProtKB/Swiss-Prot
  pKID UniProtKB/Swiss-Prot
PharmGKB CREB1 RGD, PharmGKB
PRINTS LEUZIPPRCREB UniProtKB/Swiss-Prot
PROSITE BZIP UniProtKB/Swiss-Prot
  BZIP_BASIC UniProtKB/Swiss-Prot
  KID UniProtKB/Swiss-Prot
SMART BRLZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57959 UniProtKB/Swiss-Prot
UniProt A0A024R401 ENTREZGENE
  A0A024R437 ENTREZGENE
  B7Z5C6 ENTREZGENE, UniProtKB/TrEMBL
  C9J276_HUMAN UniProtKB/TrEMBL
  C9J4L5_HUMAN UniProtKB/TrEMBL
  C9J896 ENTREZGENE, UniProtKB/TrEMBL
  C9JBT4_HUMAN UniProtKB/TrEMBL
  C9JCI4_HUMAN UniProtKB/TrEMBL
  CREB1_HUMAN UniProtKB/Swiss-Prot
  E7EWP8 ENTREZGENE, UniProtKB/TrEMBL
  H7C1R5_HUMAN UniProtKB/TrEMBL
  H7C3I0_HUMAN UniProtKB/TrEMBL
  P16220 ENTREZGENE
  P21934 ENTREZGENE
  Q4ZG78 ENTREZGENE, UniProtKB/TrEMBL
  Q53RU9_HUMAN UniProtKB/TrEMBL
  Q53X93 ENTREZGENE, UniProtKB/TrEMBL
  Q5U0J5 ENTREZGENE, UniProtKB/TrEMBL
  Q6V963 ENTREZGENE
  Q9UMA7 ENTREZGENE
UniProt Secondary P21934 UniProtKB/Swiss-Prot
  Q6V963 UniProtKB/Swiss-Prot
  Q9UMA7 UniProtKB/Swiss-Prot