NGF (nerve growth factor) - Rat Genome Database

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Gene: NGF (nerve growth factor) Homo sapiens
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Symbol: NGF
Name: nerve growth factor
RGD ID: 1352304
HGNC Page HGNC:7808
Description: Enables peptidase regulator activity and signaling receptor binding activity. Involved in extrinsic apoptotic signaling pathway via death domain receptors; neuron apoptotic process; and positive regulation of gene expression. Acts upstream of or within neuron projection morphogenesis. Predicted to be located in Golgi lumen; cytosol; and extracellular region. Predicted to be active in several cellular components, including axon; dendrite; and synaptic vesicle. Implicated in several diseases, including IgA glomerulonephritis; end stage renal disease; hereditary sensory and autonomic neuropathy type 5; interstitial cystitis; and opiate dependence (multiple). Biomarker of several diseases, including alcohol dependence; alcohol use disorder; artery disease (multiple); drug dependence (multiple); and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-nerve growth factor; Beta-NGF; HSAN5; MGC161426; MGC161428; nerve growth factor (beta polypeptide); nerve growth factor, beta polypeptide; nerve growth factor, beta subunit; NGFB; pro-nerve growth factor long
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381115,285,917 - 115,338,249 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1115,285,904 - 115,338,770 (-)Ensemblhg38GRCh38
GRCh371115,828,538 - 115,880,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,630,060 - 115,682,380 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341115,540,580 - 115,592,899NCBI
Celera1114,057,456 - 114,109,776 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1113,686,915 - 113,739,240 (-)NCBIHuRef
CHM1_11115,943,440 - 115,995,752 (-)NCBICHM1_1
T2T-CHM13v2.01115,297,082 - 115,349,408 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
alcohol dependence  (IEP,ISO)
alcohol use disorder  (IEP,ISO)
Alcohol Withdrawal Delirium  (IEP)
alcohol withdrawal syndrome  (IEP)
Alcohol-Related Disorders  (ISO)
Alcoholic Intoxication  (IEP,ISO)
Alzheimer's disease  (ISO)
amnestic disorder  (EXP)
asthma  (IDA,IEP,ISO)
atherosclerosis  (IEP)
atopic dermatitis  (IEP)
bacterial meningitis  (ISO)
bipolar disorder  (IAGP)
bladder disease  (ISO)
bladder neck obstruction  (ISO)
borna disease  (ISO)
Bronchial Hyperreactivity  (EXP)
Burns  (ISO)
cannabis abuse  (IEP)
Charcot-Marie-Tooth disease  (IAGP)
chronic asthma  (ISO)
chronic kidney disease  (EXP)
Chronic Pancreatitis  (ISO)
chronic ulcer of skin  (EXP)
cocaine dependence  (IEP)
Cocaine-Related Disorders  (EXP)
Congenital Pain Insensitivity  (IAGP)
corneal ulcer  (EXP)
coronary artery disease  (IEP)
cryptorchidism  (ISO)
cystitis  (EXP,ISO)
degenerative disc disease  (ISO)
depressive disorder  (ISO)
diabetic encephalopathy  (ISO)
diabetic neuropathy  (ISO)
diabetic retinopathy  (IEP,ISO)
end stage renal disease  (EXP,IDA)
epilepsy with generalized tonic-clonic seizures  (EXP)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
genetic disease  (IAGP)
glaucoma  (ISO)
glomerulonephritis  (EXP,IEP)
hereditary sensory and autonomic neuropathy type 5  (IAGP)
hereditary sensory neuropathy  (EXP)
heroin dependence  (EXP,IAGP,IEP)
Hyperalgesia  (EXP,ISO)
hyperhomocysteinemia  (ISO)
Hyperkinesis  (EXP)
hypertension  (ISO)
hypothyroidism  (ISO)
IgA glomerulonephritis  (IAGP)
Inflammation  (EXP,ISO)
interstitial cystitis  (IDA,IEP,ISO)
interstitial lung disease  (IEP)
interstitial nephritis  (EXP)
Lewy body dementia  (EXP)
Lung Injury  (EXP,ISO)
malignant mesothelioma  (EXP)
metabolic dysfunction-associated steatotic liver disease  (IEP)
Metabolic Syndrome  (IEP)
middle cerebral artery infarction  (EXP,ISO)
morphine dependence  (ISO)
myocardial infarction  (IEP,IMP)
myofascial pain syndrome  (ISO)
Nerve Degeneration  (EXP)
nervous system disease  (EXP)
Neurobehavioral Manifestations  (EXP)
neurodegenerative disease  (EXP)
neurogenic bladder  (IEP,ISO)
Neurogenic Inflammation  (EXP)
nicotine dependence  (ISO)
obstructive sleep apnea  (IEP)
opiate dependence  (IDA,ISO)
opiate withdrawal syndrome  (IEP)
Optic Nerve Injuries  (ISO)
osteoarthritis  (ISO)
overactive bladder syndrome  (EXP,IDA,IEP,ISO)
Pain  (IDA,ISO)
Parkinson's disease  (EXP)
Parkinsonism  (EXP,ISO)
Peripheral Nerve Injuries  (IMP,ISO)
peripheral nervous system disease  (EXP)
Postoperative Cognitive Dysfunction  (IDA,IEP,ISO)
Prenatal Exposure Delayed Effects  (ISO)
pulmonary fibrosis  (IEP)
pulmonary sarcoidosis  (IEP)
RASopathy  (IAGP)
respiratory syncytial virus infectious disease  (ISO)
retinal vascular disease  (ISO)
retinitis pigmentosa  (ISO)
Retrograde Degeneration  (ISO)
rhinitis  (IEP)
Rib Fractures  (ISO)
Rotator Cuff Injuries  (ISO)
schizophrenia  (IEP)
sciatic neuropathy  (ISO)
sensorineural hearing loss  (IEP)
separation anxiety disorder  (ISO)
Skeletal Muscle Injuries  (ISO)
Spinal Cord Injuries  (ISO)
status epilepticus  (EXP)
stress-related disorder  (ISO)
Stroke  (ISO)
systemic scleroderma  (IEP)
traumatic brain injury  (ISO)
withdrawal disorder  (IDA,IEP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-taxifolin  (ISO)
(R)-noradrenaline  (ISO)
(S)-amphetamine  (ISO)
(S)-nicotine  (EXP,ISO)
1-chloro-2,4,6-trinitrobenzene  (ISO)
13,14-dihydro-Delta(12)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
3',5'-cyclic AMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4-methylcatechol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP)
5-Isoxazoleacetic acid, 4,5-dihydro-3-(4-hydroxyphenyl)-, methyl ester  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
agathisflavone  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
arachidonic acid  (ISO)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
asiaticoside  (ISO)
ATP  (ISO)
atrazine  (ISO)
azamethiphos  (ISO)
Bay-K-8644  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
berberine  (EXP)
beta-D-glucosamine  (ISO)
bicuculline  (ISO)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bromocriptine  (ISO)
bucladesine  (EXP)
C60 fullerene  (ISO)
cabergoline  (ISO)
cadmium acetate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
Calcimycin  (EXP)
calcitriol  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
calmidazolium  (ISO)
cannabidiol  (EXP)
capsaicin  (EXP,ISO)
carbon monoxide  (ISO)
carmustine  (ISO)
carrageenan  (ISO)
celecoxib  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chrysin  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (ISO)
cocaine  (EXP)
colforsin daropate hydrochloride  (ISO)
colistin  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
corticosterone  (ISO)
Cuprizon  (ISO)
cyanocob(III)alamin  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
D-glucose  (EXP,ISO)
dapagliflozin  (ISO)
dexamethasone  (EXP,ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
dihydrolipoic acid  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
dopaminechrome (enol form)  (ISO)
doxorubicin  (EXP)
ebselen  (ISO)
echinacoside  (ISO)
edaravone  (EXP)
endosulfan  (ISO)
epalrestat  (ISO)
epinastine  (ISO)
epothilone B  (ISO)
etacrynic acid  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
everolimus  (ISO)
Evodiamine  (ISO)
excitatory amino acid agonist  (ISO)
fenthion  (ISO)
ferrostatin-1  (ISO)
fluphenazine  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
formononetin  (ISO)
fructose  (ISO)
Fusarenone X  (ISO)
galanthamine  (ISO)
galanthamine Trifluoroacetic acid  (ISO)
Geniposide pentaacetate  (ISO)
genistein  (ISO)
gentamycin  (ISO)
ginsenoside Rd  (ISO)
ginsenoside Re  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
glutathione disulfide  (ISO)
glycidol  (ISO)
Goe 6976  (ISO)
heptachlor  (ISO)
heroin  (EXP)
histamine  (ISO)
hydrogen peroxide  (ISO)
imiquimod  (ISO)
indometacin  (EXP)
inulin  (ISO)
isoprenaline  (ISO)
ketamine  (ISO)
ketotifen  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lidocaine  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP,ISO)
malathion  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (EXP)
mangiferin  (EXP)
masoprocol  (ISO)
mepyramine  (ISO)
mercury atom  (EXP,ISO)
mercury(0)  (EXP,ISO)
methamphetamine  (ISO)
Methanandamide  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
microcystin-LR  (ISO)
mithramycin  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-acetylsphingosine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
naphthalene  (ISO)
naproxen  (ISO)
nickel atom  (ISO)
nicotine  (EXP,ISO)
nifedipine  (ISO)
nimesulide  (ISO)
nitrates  (ISO)
nitric oxide  (ISO)
nocodazole  (ISO)
Nonylphenol  (ISO)
O-acetyl-L-carnitine  (ISO)
okadaic acid  (EXP,ISO)
oxidopamine  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
panaxydol  (ISO)
paracetamol  (EXP,ISO)
parathion-methyl  (ISO)
PD-166866  (ISO)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pergolide  (ISO)
permethrin  (ISO)
peroxynitrous acid  (ISO)
phenethyl caffeate  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (ISO)
PNU-282987  (ISO)
potassium atom  (ISO)
procymidone  (ISO)
progesterone  (ISO)
promethazine  (ISO)
propofol  (ISO)
propranolol  (ISO)
prostaglandin E2  (ISO)
Ptaquiloside  (ISO)
Pyridostigmine bromide  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
ranitidine  (ISO)
reactive oxygen species  (ISO)
reserpine  (ISO)
resveratrol  (ISO)
rofecoxib  (ISO)
roflumilast  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
Salidroside  (ISO)
salubrinal  (ISO)
SB 203580  (ISO)
scopolamine  (ISO)
SKF 38393  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sorbinil  (ISO)
staurosporine  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sumatriptan  (ISO)
tacrolimus hydrate  (ISO)
taurine  (ISO)
temozolomide  (EXP)
terbutaline  (ISO)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thiopental  (ISO)
thymoquinone  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triprolidine  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
udenafil  (ISO)
valproic acid  (ISO)
vincaleukoblastine  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vindesine  (ISO)
wortmannin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult locomotory behavior  (ISO)
axon extension  (IEA)
cell population proliferation  (ISO)
cell proliferation in forebrain  (ISO)
cell surface receptor protein tyrosine kinase signaling pathway  (IBA)
circadian rhythm  (IEA)
extrinsic apoptotic signaling pathway in absence of ligand  (IEA)
extrinsic apoptotic signaling pathway via death domain receptors  (IDA)
memory  (ISO)
modulation of chemical synaptic transmission  (IBA)
negative regulation of cell population proliferation  (TAS)
negative regulation of neuron apoptotic process  (IBA,IEA,ISO)
negative regulation of type B pancreatic cell apoptotic process  (ISO)
nerve development  (IBA)
nerve growth factor signaling pathway  (IBA,IEA)
neuron apoptotic process  (IEA,IGI,ISO)
neuron differentiation  (ISO)
neuron projection development  (IEA,ISO)
neuron projection morphogenesis  (IBA,IDA)
neurotrophin TRK receptor signaling pathway  (IEA)
peripheral nervous system development  (IEA)
positive regulation of axon extension  (IEA)
positive regulation of cell growth  (ISO)
positive regulation of cell population proliferation  (ISO)
positive regulation of collateral sprouting  (IEA)
positive regulation of DNA-binding transcription factor activity  (ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of gene expression  (IEA,IMP,ISS)
positive regulation of neuron differentiation  (ISO,TAS)
positive regulation of neuron maturation  (IEA)
positive regulation of neuron projection development  (IEA,ISO)
positive regulation of neurotrophin TRK receptor signaling pathway  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA)
positive regulation of protein autophosphorylation  (ISO)
positive regulation of protein phosphorylation  (ISO)
positive regulation of protein ubiquitination  (IEA)
positive regulation of Ras protein signal transduction  (IEA,ISS)
positive regulation of stem cell proliferation  (ISO)
protein phosphorylation  (ISO)
regulation of neuron differentiation  (IEA)
regulation of neurotransmitter secretion  (IEA)
regulation of release of sequestered calcium ion into cytosol  (IEA)
response to electrical stimulus  (ISO)
response to glucocorticoid  (ISO)
response to lipopolysaccharide  (ISO)
response to mechanical stimulus  (ISO)
response to nicotine  (ISO)
response to ozone  (ISO)
response to peptide hormone  (ISO)
response to xenobiotic stimulus  (ISO)
sensory perception of hot stimulus  (ISO)
sensory perception of pain  (IEA)
signal transduction  (IEA)
spermatogenesis  (ISO)

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. Epicatechin blocks pro-nerve growth factor (proNGF)-mediated retinal neurodegeneration via inhibition of p75 neurotrophin receptor expression in a rat model of diabetes . Al-Gayyar MM, etal., Diabetologia. 2011 Mar;54(3):669-80. Epub 2010 Dec 7.
2. Compromise of cortical proNGF maturation causes selective retrograde atrophy in cholinergic nucleus basalis neurons. Allard S, etal., Neurobiol Aging. 2018 Jul;67:10-20. doi: 10.1016/j.neurobiolaging.2018.03.002. Epub 2018 Mar 9.
3. Changes in human plasma nerve growth factor level after chronic alcohol consumption and withdrawal. Aloe L, etal., Alcohol Clin Exp Res. 1996 May;20(3):462-5. doi: 10.1111/j.1530-0277.1996.tb01076.x.
4. Reduced serum concentrations of nerve growth factor, but not brain-derived neurotrophic factor, in chronic cannabis abusers. Angelucci F, etal., Eur Neuropsychopharmacol. 2008 Dec;18(12):882-7. doi: 10.1016/j.euroneuro.2008.07.008. Epub 2008 Sep 6.
5. Chronic heroin and cocaine abuse is associated with decreased serum concentrations of the nerve growth factor and brain-derived neurotrophic factor. Angelucci F, etal., J Psychopharmacol. 2007 Nov;21(8):820-5. doi: 10.1177/0269881107078491. Epub 2007 Aug 22.
6. Prenatal ethanol effects on NGF level, NPY and ChAT immunoreactivity in mouse entorhinal cortex: a preliminary study. Angelucci F, etal., Neurotoxicol Teratol. 1999 Jul-Aug;21(4):415-25. doi: 10.1016/s0892-0362(99)00005-7.
7. Nerve growth factor and its monocyte receptors are affected in kidney disease. Antonucci MT, etal., Nephron Clin Pract. 2009;111(1):c21-8. doi: 10.1159/000178819. Epub 2008 Dec 9.
8. Limonene, a food additive, and its active metabolite perillyl alcohol improve regeneration and attenuate neuropathic pain after peripheral nerve injury: Evidence for IL-1β, TNF-α, GAP, NGF and ERK involvement. Araújo-Filho HG, etal., Int Immunopharmacol. 2020 Sep;86:106766. doi: 10.1016/j.intimp.2020.106766. Epub 2020 Jul 8.
9. Evaluation of the brain-derived neurotrophic factor, nerve growth factor and memory in adult rats survivors of the neonatal meningitis by Streptococcus agalactiae. Barichello T, etal., Brain Res Bull. 2013 Mar;92:56-9. doi: 10.1016/j.brainresbull.2012.05.014. Epub 2012 Jun 7.
10. Endothelin ETA receptor antagonist reverses naloxone-precipitated opioid withdrawal in mice. Bhalla S, etal., Can J Physiol Pharmacol. 2015 Nov;93(11):935-44. doi: 10.1139/cjpp-2015-0022. Epub 2015 Apr 28.
11. Upregulation of nerve growth factor in central amygdala increases sensitivity to opioid reward. Bie B, etal., Neuropsychopharmacology. 2012 Dec;37(13):2780-8. doi: 10.1038/npp.2012.144. Epub 2012 Aug 8.
12. Intravesical Escherichia coli lipopolysaccharide stimulates an increase in bladder nerve growth factor. Bjorling DE, etal., BJU Int. 2001 May;87(7):697-702.
13. Functional characterization of a chronic cyclophosphamide-induced overactive bladder model in mice. Boudes M, etal., Neurourol Urodyn. 2011 Nov;30(8):1659-65. doi: 10.1002/nau.21180. Epub 2011 Jun 29.
14. Expression of nerve growth factor carried by pseudotyped lentivirus improves neuron survival and cognitive functional recovery of post-ischemia in rats. Cao JY, etal., CNS Neurosci Ther. 2018 Jun;24(6):508-518. doi: 10.1111/cns.12818. Epub 2018 Feb 6.
15. NGF and BDNF long-term variations in the thyroid, testis and adrenal glands of a mouse model of fetal alcohol spectrum disorders. Ceccanti M, etal., Ann Ist Super Sanita. 2013;49(4):383-90. doi: 10.4415/ANN_13_04_11.
16. NGF, BDNF, leptin, and mast cells in human coronary atherosclerosis and metabolic syndrome. Chaldakov GN, etal., Arch Physiol Biochem. 2001 Oct;109(4):357-60.
17. Nerve growth factor levels and mast cell distribution in human coronary atherosclerosis. Chaldakov GN, etal., Atherosclerosis. 2001 Nov;159(1):57-66.
18. Combination therapy with intranasal NGF and electroacupuncture enhanced cell proliferation and survival in rats after stroke. Cheng S, etal., Neurol Res. 2008 Dec 5.
19. Effect of angiotensin II receptor antagonist telmisartan on detrusor overactivity in rats with bladder outlet obstruction. Cho ST, etal., Urology. 2012 Nov;80(5):1163.e1-7. doi: 10.1016/j.urology.2012.05.002. Epub 2012 Jul 13.
20. Endogenous nerve growth factor regulates collagen expression and bladder hypertrophy through Akt and MAPK pathways during cystitis. Chung CW, etal., J Biol Chem. 2010 Feb 5;285(6):4206-12. doi: 10.1074/jbc.M109.040444. Epub 2009 Dec 7.
21. Increased neurotrophin production in a Penicillium chrysogenum-induced allergic asthma model in mice. Chung YJ, etal., J Toxicol Environ Health A. 2007 Jun;70(12):1020-6.
22. Stretch-activated signaling of nerve growth factor secretion in bladder and vascular smooth muscle cells from hypertensive and hyperactive rats. Clemow DB, etal., J Cell Physiol. 2000 Jun;183(3):289-300.
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PMID:21397006   PMID:21429417   PMID:21596795   PMID:21621608   PMID:21673280   PMID:21693611   PMID:21768088   PMID:21873635   PMID:21893340   PMID:22036954   PMID:22040304   PMID:22105621  
PMID:22192858   PMID:22251933   PMID:22272270   PMID:22301435   PMID:22330829   PMID:22411587   PMID:22454143   PMID:22517242   PMID:22537619   PMID:22625872   PMID:22703891   PMID:22731611  
PMID:22789557   PMID:22804708   PMID:22932111   PMID:22948388   PMID:22948508   PMID:22954667   PMID:23034254   PMID:23086522   PMID:23091165   PMID:23095849   PMID:23128606   PMID:23234779  
PMID:23398122   PMID:23535911   PMID:23542336   PMID:23561736   PMID:23570892   PMID:23574818   PMID:23608378   PMID:23637956   PMID:23769609   PMID:23771673   PMID:23778138   PMID:23869086  
PMID:23883529   PMID:23885099   PMID:23912036   PMID:23959444   PMID:23973519   PMID:23989259   PMID:24112788   PMID:24180625   PMID:24212932   PMID:24458144   PMID:24557415   PMID:24585880  
PMID:24614892   PMID:24706316   PMID:24733087   PMID:24793757   PMID:24794250   PMID:24825909   PMID:24899094   PMID:24939299   PMID:25001650   PMID:25019486   PMID:25033919   PMID:25064020  
PMID:25069717   PMID:25162994   PMID:25181532   PMID:25275256   PMID:25285721   PMID:25286822   PMID:25383879   PMID:25491371   PMID:25496838   PMID:25510766   PMID:25519715   PMID:25595986  
PMID:25611484   PMID:25613138   PMID:25619719   PMID:25650935   PMID:25816145   PMID:25840418   PMID:25853140   PMID:25854576   PMID:25876154   PMID:25916157   PMID:26021968   PMID:26066770  
PMID:26118751   PMID:26337663   PMID:26408608   PMID:26457789   PMID:26547754   PMID:26569118   PMID:26572749   PMID:26616164   PMID:26825093   PMID:26962689   PMID:26966186   PMID:27008247  
PMID:27020638   PMID:27146986   PMID:27264679   PMID:27367919   PMID:27424144   PMID:27439311   PMID:27454463   PMID:27513943   PMID:27561780   PMID:27577679   PMID:27654574   PMID:27683235  
PMID:27792755   PMID:27802234   PMID:27835587   PMID:27862119   PMID:27908212   PMID:27936243   PMID:27978558   PMID:28068360   PMID:28237042   PMID:28249734   PMID:28253191   PMID:28260038  
PMID:28364186   PMID:28465581   PMID:28494216   PMID:28677145   PMID:28679437   PMID:28798232   PMID:29174194   PMID:29328070   PMID:29419974   PMID:29476769   PMID:29499660   PMID:29527653  
PMID:29539621   PMID:29584618   PMID:29799860   PMID:29802376   PMID:30039889   PMID:30070410   PMID:30092220   PMID:30296891   PMID:30393197   PMID:30418350   PMID:30575339   PMID:30663865  
PMID:30680928   PMID:30771434   PMID:30981636   PMID:31002151   PMID:31077183   PMID:31301255   PMID:31541132   PMID:31685654   PMID:31732726   PMID:31775361   PMID:31775768   PMID:31838083  
PMID:31901598   PMID:31925656   PMID:31996124   PMID:32001246   PMID:32151405   PMID:32240297   PMID:32294802   PMID:32440884   PMID:32488129   PMID:32569620   PMID:32693191   PMID:32767928  
PMID:32813897   PMID:32814053   PMID:32827836   PMID:32892409   PMID:33026185   PMID:33398073   PMID:33649819   PMID:34000361   PMID:34074169   PMID:34214954   PMID:34556815   PMID:34589551  
PMID:34639085   PMID:34763683   PMID:34991456   PMID:35008797   PMID:35095908   PMID:35216240   PMID:35219096   PMID:35309353   PMID:35351958   PMID:35579787   PMID:36305765   PMID:36354700  
PMID:36361912   PMID:36563920   PMID:36675126   PMID:36768281   PMID:37004343   PMID:37175781   PMID:37587642   PMID:37699453   PMID:38003427   PMID:38063117   PMID:38112032   PMID:38203537  
PMID:38387191   PMID:38441774   PMID:38646645   PMID:38785989  


Genomics

Comparative Map Data
NGF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381115,285,917 - 115,338,249 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1115,285,904 - 115,338,770 (-)Ensemblhg38GRCh38
GRCh371115,828,538 - 115,880,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,630,060 - 115,682,380 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341115,540,580 - 115,592,899NCBI
Celera1114,057,456 - 114,109,776 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1113,686,915 - 113,739,240 (-)NCBIHuRef
CHM1_11115,943,440 - 115,995,752 (-)NCBICHM1_1
T2T-CHM13v2.01115,297,082 - 115,349,408 (-)NCBIT2T-CHM13v2.0
Ngf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393102,377,235 - 102,428,329 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3102,377,235 - 102,428,329 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm383102,469,919 - 102,521,013 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3102,469,919 - 102,521,013 (+)Ensemblmm10GRCm38
MGSCv373102,273,851 - 102,324,936 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv363102,598,989 - 102,650,066 (+)NCBIMGSCv36mm8
Celera3104,674,123 - 104,724,621 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map345.25NCBI
Ngf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82192,589,580 - 192,642,971 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2192,589,582 - 192,643,834 (+)EnsemblGRCr8
mRatBN7.22189,901,058 - 189,954,452 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2189,901,058 - 189,954,452 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2197,519,156 - 197,572,237 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02195,377,191 - 195,431,562 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02190,206,371 - 190,261,316 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02204,886,158 - 204,939,523 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2204,886,202 - 204,940,453 (+)Ensemblrn6Rnor6.0
Rnor_5.02224,316,210 - 224,369,663 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42197,621,726 - 197,632,960 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2182,322,945 - 182,375,918 (+)NCBICelera
RH 3.4 Map21294.4RGD
Cytogenetic Map2q34NCBI
Ngf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543518,581,808 - 18,601,059 (-)Ensembl
ChiLan1.0NW_00495543518,581,889 - 18,633,330 (-)NCBIChiLan1.0ChiLan1.0
NGF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21107,940,198 - 107,992,897 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11107,539,320 - 107,592,441 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0187,223,597 - 87,276,759 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11122,272,750 - 122,325,909 (+)NCBIPanPan1.1PanPan1.1panPan2
NGF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11752,900,647 - 52,901,607 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1752,900,647 - 52,901,607 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1752,550,068 - 52,550,845 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01753,781,750 - 53,834,593 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1753,781,750 - 53,782,527 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11752,820,833 - 52,821,610 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01752,855,816 - 52,856,593 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01753,428,944 - 53,429,721 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Ngf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505813,803,009 - 13,853,189 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936627635,788 - 645,364 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936627635,784 - 641,290 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NGF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4105,256,749 - 105,307,837 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.14105,256,691 - 105,307,843 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24115,436,784 - 115,446,393 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NGF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12018,361,795 - 18,413,987 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2018,413,108 - 18,413,833 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603821,083,578 - 21,157,325 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ngf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477211,010,845 - 11,070,017 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462477211,009,765 - 11,070,050 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in NGF
180 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002506.3(NGF):c.170C>T (p.Ala57Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000547214]|Inborn genetic diseases [RCV002404377] Chr1:115286626 [GRCh38]
Chr1:115829247 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.680_682delinsA (p.Thr227fs) indel Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000022672]|Peripheral neuropathy [RCV004798744] Chr1:115286114..115286116 [GRCh38]
Chr1:115828735..115828737 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_002506.3(NGF):c.661C>T (p.Arg221Trp) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000015089]|not specified [RCV003989104] Chr1:115286135 [GRCh38]
Chr1:115828756 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic
NM_002506.3(NGF):c.687T>C (p.Cys229=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000399968] Chr1:115286109 [GRCh38]
Chr1:115828730 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.335C>G (p.Pro112Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000265567]|Inborn genetic diseases [RCV003278746]|not provided [RCV000494698] Chr1:115286461 [GRCh38]
Chr1:115829082 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_002506.3(NGF):c.561C>T (p.Ser187=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000526575] Chr1:115286235 [GRCh38]
Chr1:115828856 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12		 pathogenic
NM_002506.2(NGF):c.251C>T (p.Ser84Leu) single nucleotide variant Malignant melanoma [RCV000064037] Chr1:115286545 [GRCh38]
Chr1:115829166 [GRCh37]
Chr1:115630689 [NCBI36]
Chr1:1p13.2		 not provided
NM_002506.2(NGF):c.106C>T (p.His36Tyr) single nucleotide variant Malignant melanoma [RCV000064038] Chr1:115286690 [GRCh38]
Chr1:115829311 [GRCh37]
Chr1:115630834 [NCBI36]
Chr1:1p13.2		 not provided
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
NM_002506.3(NGF):c.214G>A (p.Val72Met) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000546440]|NGF-related disorder [RCV004737608]|not provided [RCV004715254]|not specified [RCV000603122] Chr1:115286582 [GRCh38]
Chr1:115829203 [GRCh37]
Chr1:1p13.2		 benign|likely benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_002506.3(NGF):c.421G>C (p.Val141Leu) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000357900] Chr1:115286375 [GRCh38]
Chr1:115828996 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.196C>A (p.Gln66Lys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000361135]|Inborn genetic diseases [RCV003165781] Chr1:115286600 [GRCh38]
Chr1:115829221 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.284G>A (p.Arg95His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000545363]|Inborn genetic diseases [RCV002436056]|not provided [RCV001722274] Chr1:115286512 [GRCh38]
Chr1:115829133 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.104C>T (p.Ala35Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000268865]|not provided [RCV001618498]|not specified [RCV001699424] Chr1:115286692 [GRCh38]
Chr1:115829313 [GRCh37]
Chr1:1p13.2		 benign
NM_002506.3(NGF):c.-13+14G>A single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000383246]|not specified [RCV000430743] Chr1:115293613 [GRCh38]
Chr1:115836234 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.54G>A (p.Ala18=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000326286]|NGF-related disorder [RCV004549635]|not provided [RCV001618499] Chr1:115286742 [GRCh38]
Chr1:115829363 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002506.3(NGF):c.247C>T (p.Arg83Cys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631359]|Inborn genetic diseases [RCV002450719]|not provided [RCV000235572] Chr1:115286549 [GRCh38]
Chr1:115829170 [GRCh37]
Chr1:1p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002506.3(NGF):c.562G>A (p.Gly188Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000700443]|Inborn genetic diseases [RCV002347930]|not provided [RCV000236895] Chr1:115286234 [GRCh38]
Chr1:115828855 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.173C>T (p.Ala58Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000553133]|Inborn genetic diseases [RCV002413446]|NGF-related disorder [RCV004553172]|not provided [RCV005243268] Chr1:115286623 [GRCh38]
Chr1:115829244 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_002506.3(NGF):c.106C>A (p.His36Asn) single nucleotide variant not provided [RCV000262770] Chr1:115286690 [GRCh38]
Chr1:115829311 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.477G>A (p.Val159=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000300728] Chr1:115286319 [GRCh38]
Chr1:115828940 [GRCh37]
Chr1:1p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002506.3(NGF):c.372C>G (p.Ser124=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000549147] Chr1:115286424 [GRCh38]
Chr1:115829045 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.706A>C (p.Lys236Gln) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000541314] Chr1:115286090 [GRCh38]
Chr1:115828711 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000322937]|NGF-related disorder [RCV004549634]|not provided [RCV001706427]|not specified [RCV001699337] Chr1:115286557 [GRCh38]
Chr1:115829178 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002506.3(NGF):c.133G>A (p.Asp45Asn) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000532480]|Inborn genetic diseases [RCV002384048] Chr1:115286663 [GRCh38]
Chr1:115829284 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.*120T>G single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000354557] Chr1:115285950 [GRCh38]
Chr1:115828571 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.191C>T (p.Ala64Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000531393]|Inborn genetic diseases [RCV002413447]|not provided [RCV000597730] Chr1:115286605 [GRCh38]
Chr1:115829226 [GRCh37]
Chr1:1p13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002506.3(NGF):c.483A>G (p.Gly161=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000537837] Chr1:115286313 [GRCh38]
Chr1:115828934 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.257G>A (p.Arg86His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000535152]|Inborn genetic diseases [RCV002456052]|not provided [RCV004787843] Chr1:115286539 [GRCh38]
Chr1:115829160 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.393C>T (p.Gly131=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000527399]|not specified [RCV000434201] Chr1:115286403 [GRCh38]
Chr1:115829024 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.665T>G (p.Phe222Cys) single nucleotide variant not provided [RCV000427457] Chr1:115286131 [GRCh38]
Chr1:115828752 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.-120C>T single nucleotide variant not specified [RCV000442787] Chr1:115293734 [GRCh38]
Chr1:115836355 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.78C>T (p.Val26=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000871232]|NGF-related disorder [RCV004551457]|not specified [RCV000429051] Chr1:115286718 [GRCh38]
Chr1:115829339 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_002506.3(NGF):c.4T>C (p.Ser2Pro) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631357] Chr1:115286792 [GRCh38]
Chr1:115829413 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.670C>T (p.Arg224Trp) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631362] Chr1:115286126 [GRCh38]
Chr1:115828747 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.174G>A (p.Ala58=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631364]|NGF-related disorder [RCV004547776] Chr1:115286622 [GRCh38]
Chr1:115829243 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_002506.3(NGF):c.-137+13G>T single nucleotide variant not specified [RCV000601755] Chr1:115338191 [GRCh38]
Chr1:115880812 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.35T>G (p.Phe12Cys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000560325]|not provided [RCV003226938] Chr1:115286761 [GRCh38]
Chr1:115829382 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.83C>A (p.Ala28Glu) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631360] Chr1:115286713 [GRCh38]
Chr1:115829334 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.202C>T (p.Arg68Cys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631363]|Inborn genetic diseases [RCV002420680] Chr1:115286594 [GRCh38]
Chr1:115829215 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.93C>G (p.Thr31=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631365] Chr1:115286703 [GRCh38]
Chr1:115829324 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_002506.3(NGF):c.165G>A (p.Pro55=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631366] Chr1:115286631 [GRCh38]
Chr1:115829252 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_002506.3(NGF):c.399C>A (p.Phe133Leu) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000687757] Chr1:115286397 [GRCh38]
Chr1:115829018 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.315C>T (p.Phe105=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000977465] Chr1:115286481 [GRCh38]
Chr1:115829102 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.600T>C (p.Tyr200=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001459957]|not provided [RCV000756441] Chr1:115286196 [GRCh38]
Chr1:115828817 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.335C>A (p.Pro112His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001052306] Chr1:115286461 [GRCh38]
Chr1:115829082 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.318G>C (p.Glu106Asp) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001036400] Chr1:115286478 [GRCh38]
Chr1:115829099 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.186C>T (p.Arg62=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000797235] Chr1:115286610 [GRCh38]
Chr1:115829231 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.-12-118G>C single nucleotide variant not provided [RCV000835099] Chr1:115286925 [GRCh38]
Chr1:115829546 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.560G>A (p.Ser187Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789501] Chr1:115286236 [GRCh38]
Chr1:115828857 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.680C>A (p.Thr227Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789667]|Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001055668] Chr1:115286116 [GRCh38]
Chr1:115828737 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.31G>A (p.Ala11Thr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000804429]|Inborn genetic diseases [RCV002442685] Chr1:115286765 [GRCh38]
Chr1:115829386 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.146G>A (p.Arg49His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000798441]|Inborn genetic diseases [RCV002388460]|NGF-related disorder [RCV001824886]|not provided [RCV003884731] Chr1:115286650 [GRCh38]
Chr1:115829271 [GRCh37]
Chr1:1p13.2		 uncertain significance|not provided
NM_002506.3(NGF):c.372C>T (p.Ser124=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000928444] Chr1:115286424 [GRCh38]
Chr1:115829045 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.486G>A (p.Glu162=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000934825] Chr1:115286310 [GRCh38]
Chr1:115828931 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.562G>C (p.Gly188Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001034965] Chr1:115286234 [GRCh38]
Chr1:115828855 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.-13+228G>A single nucleotide variant not provided [RCV001616784] Chr1:115293399 [GRCh38]
Chr1:115836020 [GRCh37]
Chr1:1p13.2		 benign
NM_002506.3(NGF):c.632T>C (p.Leu211Pro) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001038641] Chr1:115286164 [GRCh38]
Chr1:115828785 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.52G>T (p.Ala18Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001205524] Chr1:115286744 [GRCh38]
Chr1:115829365 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.187G>A (p.Val63Met) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001324816] Chr1:115286609 [GRCh38]
Chr1:115829230 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.381C>T (p.Ile127=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001505348] Chr1:115286415 [GRCh38]
Chr1:115829036 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.205A>C (p.Asn69His) single nucleotide variant not provided [RCV001507971] Chr1:115286591 [GRCh38]
Chr1:115829212 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.480G>A (p.Leu160=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001482933] Chr1:115286316 [GRCh38]
Chr1:115828937 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.246C>T (p.Leu82=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001424346] Chr1:115286550 [GRCh38]
Chr1:115829171 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.-136-167C>T single nucleotide variant not provided [RCV001762798] Chr1:115293917 [GRCh38]
Chr1:115836538 [GRCh37]
Chr1:1p13.2		 benign
NM_002506.3(NGF):c.504T>A (p.Ser168Arg) single nucleotide variant not provided [RCV001754119] Chr1:115286292 [GRCh38]
Chr1:115828913 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.389G>A (p.Arg130Lys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002001930] Chr1:115286407 [GRCh38]
Chr1:115829028 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.412A>G (p.Ser138Gly) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002006037]|not provided [RCV003312033] Chr1:115286384 [GRCh38]
Chr1:115829005 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.136A>G (p.Thr46Ala) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001969057] Chr1:115286660 [GRCh38]
Chr1:115829281 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.487G>A (p.Val163Met) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001908367] Chr1:115286309 [GRCh38]
Chr1:115828930 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.253C>T (p.Pro85Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002008038] Chr1:115286543 [GRCh38]
Chr1:115829164 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2		 pathogenic
NM_002506.3(NGF):c.394G>A (p.Glu132Lys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001963739] Chr1:115286402 [GRCh38]
Chr1:115829023 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.573C>T (p.Gly191=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001943655] Chr1:115286223 [GRCh38]
Chr1:115828844 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.420C>T (p.Ser140=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001989599] Chr1:115286376 [GRCh38]
Chr1:115828997 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.188T>C (p.Val63Ala) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001936844] Chr1:115286608 [GRCh38]
Chr1:115829229 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.343A>G (p.Arg115Gly) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002018311] Chr1:115286453 [GRCh38]
Chr1:115829074 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.340A>C (p.Asn114His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001998854] Chr1:115286456 [GRCh38]
Chr1:115829077 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.275A>G (p.Gln92Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001878308] Chr1:115286521 [GRCh38]
Chr1:115829142 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.283C>T (p.Arg95Cys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001993690]|Inborn genetic diseases [RCV002441124] Chr1:115286513 [GRCh38]
Chr1:115829134 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.657C>T (p.Ala219=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002186396] Chr1:115286139 [GRCh38]
Chr1:115828760 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.219C>T (p.Asp73=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002196652]|NGF-related disorder [RCV004738557] Chr1:115286577 [GRCh38]
Chr1:115829198 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.276G>A (p.Gln92=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002189038] Chr1:115286520 [GRCh38]
Chr1:115829141 [GRCh37]
Chr1:1p13.2		 benign
NM_002506.3(NGF):c.553G>A (p.Val185Ile) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002193518]|Inborn genetic diseases [RCV002346538] Chr1:115286243 [GRCh38]
Chr1:115828864 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.609G>A (p.Thr203=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002084497] Chr1:115286187 [GRCh38]
Chr1:115828808 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.441C>T (p.Thr147=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002164261]|not provided [RCV004711885] Chr1:115286355 [GRCh38]
Chr1:115828976 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.165G>C (p.Pro55=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002201367] Chr1:115286631 [GRCh38]
Chr1:115829252 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.203G>A (p.Arg68His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003098577]|Inborn genetic diseases [RCV002419909] Chr1:115286593 [GRCh38]
Chr1:115829214 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.257G>C (p.Arg86Pro) single nucleotide variant Inborn genetic diseases [RCV002452832] Chr1:115286539 [GRCh38]
Chr1:115829160 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.12G>C (p.Leu4Phe) single nucleotide variant Inborn genetic diseases [RCV002380811] Chr1:115286784 [GRCh38]
Chr1:115829405 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.59C>T (p.Pro20Leu) single nucleotide variant Inborn genetic diseases [RCV002357951] Chr1:115286737 [GRCh38]
Chr1:115829358 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.482G>C (p.Gly161Ala) single nucleotide variant Inborn genetic diseases [RCV002338069] Chr1:115286314 [GRCh38]
Chr1:115828935 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.242G>A (p.Arg81Gln) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003101807]|Inborn genetic diseases [RCV002459873] Chr1:115286554 [GRCh38]
Chr1:115829175 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.338T>C (p.Phe113Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003054394] Chr1:115286458 [GRCh38]
Chr1:115829079 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.544C>T (p.Pro182Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002766493] Chr1:115286252 [GRCh38]
Chr1:115828873 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.240G>C (p.Arg80=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002852006] Chr1:115286556 [GRCh38]
Chr1:115829177 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.456C>T (p.Ile152=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002746400] Chr1:115286340 [GRCh38]
Chr1:115828961 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.241C>T (p.Arg81Ter) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002606031] Chr1:115286555 [GRCh38]
Chr1:115829176 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_002506.3(NGF):c.6C>T (p.Ser2=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003630651] Chr1:115286790 [GRCh38]
Chr1:115829411 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.681G>C (p.Thr227=) single nucleotide variant NGF-related disorder [RCV004550991] Chr1:115286115 [GRCh38]
Chr1:115828736 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.677A>G (p.Asp226Gly) single nucleotide variant not provided [RCV004590676] Chr1:115286119 [GRCh38]
Chr1:115828740 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.714G>A (p.Val238=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005105893] Chr1:115286082 [GRCh38]
Chr1:115828703 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.63C>T (p.His21=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005084757] Chr1:115286733 [GRCh38]
Chr1:115829354 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.279T>C (p.Pro93=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005111179] Chr1:115286517 [GRCh38]
Chr1:115829138 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.253C>G (p.Pro85Ala) single nucleotide variant not provided [RCV005241754] Chr1:115286543 [GRCh38]
Chr1:115829164 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.265T>C (p.Phe89Leu) single nucleotide variant Inborn genetic diseases [RCV005382745] Chr1:115286531 [GRCh38]
Chr1:115829152 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.684C>T (p.Ala228=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005202502] Chr1:115286112 [GRCh38]
Chr1:115828733 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002506.3(NGF):c.371C>T (p.Ser124Phe) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000534061] Chr1:115286425 [GRCh38]
Chr1:115829046 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.53C>T (p.Ala18Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631358]|Inborn genetic diseases [RCV002343203]|not provided [RCV004568373] Chr1:115286743 [GRCh38]
Chr1:115829364 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.645C>T (p.Gly215=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000631361] Chr1:115286151 [GRCh38]
Chr1:115828772 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.672G>A (p.Arg224=) single nucleotide variant not specified [RCV000615854] Chr1:115286124 [GRCh38]
Chr1:115828745 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
NM_002506.3(NGF):c.515A>G (p.Gln172Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000700395] Chr1:115286281 [GRCh38]
Chr1:115828902 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.638T>C (p.Met213Thr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000690491] Chr1:115286158 [GRCh38]
Chr1:115828779 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.539G>A (p.Arg180Gln) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000699487]|Inborn genetic diseases [RCV002343513] Chr1:115286257 [GRCh38]
Chr1:115828878 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002506.3(NGF):c.537C>T (p.Cys179=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001455180] Chr1:115286259 [GRCh38]
Chr1:115828880 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.184C>T (p.Arg62Cys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001052027]|Inborn genetic diseases [RCV002409434] Chr1:115286612 [GRCh38]
Chr1:115829233 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 copy number loss not provided [RCV001005130] Chr1:114024461..116189135 [GRCh37]
Chr1:1p13.2-13.1		 likely pathogenic
NM_002506.3(NGF):c.160G>A (p.Ala54Thr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000793092] Chr1:115286636 [GRCh38]
Chr1:115829257 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.417C>T (p.Val139=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001462283] Chr1:115286379 [GRCh38]
Chr1:115829000 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.23T>C (p.Leu8Pro) single nucleotide variant Inborn genetic diseases [RCV003272022] Chr1:115286773 [GRCh38]
Chr1:115829394 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.185G>A (p.Arg62His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000820016]|Inborn genetic diseases [RCV002408972]|not provided [RCV002067402] Chr1:115286611 [GRCh38]
Chr1:115829232 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.508T>C (p.Phe170Leu) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000795207] Chr1:115286288 [GRCh38]
Chr1:115828909 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.2(NGF):c.-367C>T single nucleotide variant not provided [RCV000826444] Chr1:115338434 [GRCh38]
Chr1:115881055 [GRCh37]
Chr1:1p13.2		 benign
NM_002506.3(NGF):c.145C>T (p.Arg49Cys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000819975] Chr1:115286651 [GRCh38]
Chr1:115829272 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.184C>A (p.Arg62Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000794538] Chr1:115286612 [GRCh38]
Chr1:115829233 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.38T>G (p.Leu13Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000802705] Chr1:115286758 [GRCh38]
Chr1:115829379 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.238C>T (p.Arg80Trp) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001043510] Chr1:115286558 [GRCh38]
Chr1:115829179 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.439A>T (p.Thr147Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000794521] Chr1:115286357 [GRCh38]
Chr1:115828978 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.681_682del (p.Ala228fs) deletion Charcot-Marie-Tooth disease [RCV000789668] Chr1:115286114..115286115 [GRCh38]
Chr1:115828735..115828736 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.154C>T (p.Arg52Cys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000799142]|Inborn genetic diseases [RCV004027984] Chr1:115286642 [GRCh38]
Chr1:115829263 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.109T>C (p.Trp37Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000811327] Chr1:115286687 [GRCh38]
Chr1:115829308 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.318G>A (p.Glu106=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000941485] Chr1:115286478 [GRCh38]
Chr1:115829099 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.491A>T (p.Asn164Ile) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001067793] Chr1:115286305 [GRCh38]
Chr1:115828926 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.208A>G (p.Ile70Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001238906] Chr1:115286588 [GRCh38]
Chr1:115829209 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.216G>A (p.Val72=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001209786] Chr1:115286580 [GRCh38]
Chr1:115829201 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_002506.3(NGF):c.163C>G (p.Pro55Ala) single nucleotide variant not provided [RCV003239235] Chr1:115286633 [GRCh38]
Chr1:115829254 [GRCh37]
Chr1:1p13.2		 uncertain significance
NC_000001.10:g.(?_115828691)_(115829416_?)dup duplication Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003107707] Chr1:115828691..115829416 [GRCh37]
Chr1:1p13.2		 uncertain significance
NC_000001.10:g.(?_113456513)_(116311162_?)dup duplication RASopathy [RCV003107709] Chr1:113456513..116311162 [GRCh37]
Chr1:1p13.2-13.1		 uncertain significance
NM_002506.3(NGF):c.402G>A (p.Ser134=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV000876379] Chr1:115286394 [GRCh38]
Chr1:115829015 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.468G>A (p.Glu156=) single nucleotide variant not provided [RCV000910930] Chr1:115286328 [GRCh38]
Chr1:115828949 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.193G>A (p.Gly65Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001244650] Chr1:115286603 [GRCh38]
Chr1:115829224 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.283C>A (p.Arg95Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001099158] Chr1:115286513 [GRCh38]
Chr1:115829134 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.145C>A (p.Arg49Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001236878] Chr1:115286651 [GRCh38]
Chr1:115829272 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.159C>T (p.Ser53=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001468856] Chr1:115286637 [GRCh38]
Chr1:115829258 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.-13+145C>A single nucleotide variant not provided [RCV001719268] Chr1:115293482 [GRCh38]
Chr1:115836103 [GRCh37]
Chr1:1p13.2		 benign
NM_002506.3(NGF):c.-137+150T>G single nucleotide variant not provided [RCV001641433] Chr1:115338054 [GRCh38]
Chr1:115880675 [GRCh37]
Chr1:1p13.2		 benign
NM_002506.3(NGF):c.552C>T (p.Pro184=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001099075] Chr1:115286244 [GRCh38]
Chr1:115828865 [GRCh37]
Chr1:1p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002506.3(NGF):c.466G>A (p.Glu156Lys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001220422] Chr1:115286330 [GRCh38]
Chr1:115828951 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.662G>T (p.Arg221Leu) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001202277] Chr1:115286134 [GRCh38]
Chr1:115828755 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.316G>A (p.Glu106Lys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001054534] Chr1:115286480 [GRCh38]
Chr1:115829101 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.43G>A (p.Gly15Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001101152]|Inborn genetic diseases [RCV002327385] Chr1:115286753 [GRCh38]
Chr1:115829374 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002506.3(NGF):c.224G>A (p.Arg75Lys) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001328962] Chr1:115286572 [GRCh38]
Chr1:115829193 [GRCh37]
Chr1:1p13.2		 uncertain significance
NC_000001.10:g.(?_115828681)_(115829426_?)dup duplication Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001319453] Chr1:115828681..115829426 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.572G>T (p.Gly191Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001373059] Chr1:115286224 [GRCh38]
Chr1:115828845 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
NM_002506.3(NGF):c.388A>G (p.Arg130Gly) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001296799] Chr1:115286408 [GRCh38]
Chr1:115829029 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.69G>A (p.Glu23=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001442191] Chr1:115286727 [GRCh38]
Chr1:115829348 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.18C>T (p.Tyr6=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001402000] Chr1:115286778 [GRCh38]
Chr1:115829399 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.201C>A (p.Thr67=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001473956] Chr1:115286595 [GRCh38]
Chr1:115829216 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.-13+185T>C single nucleotide variant not provided [RCV001779840] Chr1:115293442 [GRCh38]
Chr1:115836063 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.613C>G (p.His205Asp) single nucleotide variant not provided [RCV001816059] Chr1:115286183 [GRCh38]
Chr1:115828804 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.321C>T (p.Val107=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001802624] Chr1:115286475 [GRCh38]
Chr1:115829096 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.124C>G (p.His42Asp) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001971455] Chr1:115286672 [GRCh38]
Chr1:115829293 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.445G>T (p.Ala149Ser) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001908435] Chr1:115286351 [GRCh38]
Chr1:115828972 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.575T>C (p.Ile192Thr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001947636] Chr1:115286221 [GRCh38]
Chr1:115828842 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.280C>A (p.Pro94Thr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001945918] Chr1:115286516 [GRCh38]
Chr1:115829137 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.512A>G (p.Lys171Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001942353]|Inborn genetic diseases [RCV002334761] Chr1:115286284 [GRCh38]
Chr1:115828905 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.43G>C (p.Gly15Arg) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001977277] Chr1:115286753 [GRCh38]
Chr1:115829374 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.222_223delinsAG (p.Arg75Gly) indel Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001977319] Chr1:115286573..115286574 [GRCh38]
Chr1:115829194..115829195 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.530C>T (p.Thr177Ile) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002027365] Chr1:115286266 [GRCh38]
Chr1:115828887 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.445G>A (p.Ala149Thr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001971952] Chr1:115286351 [GRCh38]
Chr1:115828972 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.124C>T (p.His42Tyr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002051260] Chr1:115286672 [GRCh38]
Chr1:115829293 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.361C>T (p.Arg121Trp) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV001925260]|not specified [RCV003989134] Chr1:115286435 [GRCh38]
Chr1:115829056 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.354G>A (p.Arg118=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002220456] Chr1:115286442 [GRCh38]
Chr1:115829063 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.428T>C (p.Val143Ala) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003118753] Chr1:115286368 [GRCh38]
Chr1:115828989 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.32C>T (p.Ala11Val) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002730936] Chr1:115286764 [GRCh38]
Chr1:115829385 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.262C>T (p.Leu88=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003075387] Chr1:115286534 [GRCh38]
Chr1:115829155 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.264G>A (p.Leu88=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002994662] Chr1:115286532 [GRCh38]
Chr1:115829153 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.248G>A (p.Arg83His) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002590584]|Inborn genetic diseases [RCV003382902] Chr1:115286548 [GRCh38]
Chr1:115829169 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.95T>C (p.Ile32Thr) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002711068] Chr1:115286701 [GRCh38]
Chr1:115829322 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.630G>A (p.Ala210=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002653087] Chr1:115286166 [GRCh38]
Chr1:115828787 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.681G>A (p.Thr227=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV002603664] Chr1:115286115 [GRCh38]
Chr1:115828736 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.421G>A (p.Val141Met) single nucleotide variant Inborn genetic diseases [RCV003193655] Chr1:115286375 [GRCh38]
Chr1:115828996 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.150A>G (p.Arg50=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003874432] Chr1:115286646 [GRCh38]
Chr1:115829267 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1		 pathogenic
NM_002506.3(NGF):c.351C>T (p.His117=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV003630749] Chr1:115286445 [GRCh38]
Chr1:115829066 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.322G>A (p.Gly108Ser) single nucleotide variant Inborn genetic diseases [RCV004487503] Chr1:115286474 [GRCh38]
Chr1:115829095 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.689T>C (p.Val230Ala) single nucleotide variant Inborn genetic diseases [RCV004961731] Chr1:115286107 [GRCh38]
Chr1:115828728 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_002506.3(NGF):c.90C>T (p.His30=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005178854] Chr1:115286706 [GRCh38]
Chr1:115829327 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.195G>A (p.Gly65=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005118733] Chr1:115286601 [GRCh38]
Chr1:115829222 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.661C>A (p.Arg221=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005143635] Chr1:115286135 [GRCh38]
Chr1:115828756 [GRCh37]
Chr1:1p13.2		 likely benign
NM_002506.3(NGF):c.270C>T (p.Ser90=) single nucleotide variant Congenital sensory neuropathy with selective loss of small myelinated fibers [RCV005155371] Chr1:115286526 [GRCh38]
Chr1:115829147 [GRCh37]
Chr1:1p13.2		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:284
Count of miRNA genes:265
Interacting mature miRNAs:268
Transcripts:ENST00000369512
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407171649GWAS820625_Hsystolic blood pressure QTL GWAS820625 (human)0.0000001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1115294125115294126Human
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
407071144GWAS720120_Haspartate aminotransferase measurement QTL GWAS720120 (human)0.000003blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1115289162115289163Human
596966424GWAS1085943_Hdiastolic blood pressure QTL GWAS1085943 (human)3e-23diastolic blood pressure1115288581115288582Human
597110361GWAS1206435_Herythrocyte count QTL GWAS1206435 (human)2e-10erythrocyte countred blood cell count (CMO:0000025)1115305767115305768Human
407166964GWAS815940_Hdiastolic blood pressure QTL GWAS815940 (human)1e-11arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1115294125115294126Human
406984688GWAS633664_Hsystolic blood pressure QTL GWAS633664 (human)3e-21systolic blood pressure1115288581115288582Human
407395504GWAS1044480_Hsystolic blood pressure QTL GWAS1044480 (human)2e-16systolic blood pressure1115288581115288582Human
596968429GWAS1087948_Hsystolic blood pressure QTL GWAS1087948 (human)2e-16systolic blood pressure1115288581115288582Human
596968493GWAS1088012_Hsystolic blood pressure QTL GWAS1088012 (human)4e-19systolic blood pressure1115288581115288582Human
596954126GWAS1073645_Hsystolic blood pressure QTL GWAS1073645 (human)3e-21diastolic blood pressure1115288581115288582Human
407167199GWAS816175_Hdiastolic blood pressure QTL GWAS816175 (human)5e-10arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1115286557115286558Human
407416531GWAS1065507_Hdiastolic blood pressure QTL GWAS1065507 (human)3e-23diastolic blood pressure1115288581115288582Human
597397760GWAS1493834_Hschizophrenia QTL GWAS1493834 (human)0.000001schizophrenia1115314630115314631Human
597462561GWAS1558635_Hdiastolic blood pressure QTL GWAS1558635 (human)5e-22arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1115286557115286558Human

Markers in Region
D1S3540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,828,728 - 115,828,821UniSTSGRCh37
Build 361115,630,251 - 115,630,344RGDNCBI36
Celera1114,057,647 - 114,057,740RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,687,106 - 113,687,199UniSTS
TNG Radiation Hybrid Map163038.0UniSTS
Stanford-G3 RH Map15429.0UniSTS
GeneMap99-GB4 RH Map1386.97UniSTS
NCBI RH Map1843.9UniSTS
GeneMap99-G3 RH Map15385.0UniSTS
D1S2148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,874,897 - 115,875,382UniSTSGRCh37
Build 361115,676,420 - 115,676,905RGDNCBI36
Celera1114,103,825 - 114,104,310RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,733,282 - 113,733,767UniSTS
D1S2206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,854,221 - 115,854,356UniSTSGRCh37
Build 361115,655,744 - 115,655,879RGDNCBI36
Celera1114,083,154 - 114,083,289RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,712,613 - 113,712,748UniSTS
D1S2209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,829,837 - 115,829,984UniSTSGRCh37
Build 361115,631,360 - 115,631,507RGDNCBI36
Celera1114,058,756 - 114,058,903RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,688,215 - 113,688,362UniSTS
D1S2220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,874,408 - 115,874,669UniSTSGRCh37
Build 361115,675,931 - 115,676,192RGDNCBI36
Celera1114,103,336 - 114,103,597RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,732,793 - 113,733,054UniSTS
GDB:181532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,836,184 - 115,836,700UniSTSGRCh37
Build 361115,637,707 - 115,638,223RGDNCBI36
Celera1114,065,101 - 114,065,617RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,694,561 - 113,695,077UniSTS
SHGC-75366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,828,593 - 115,828,670UniSTSGRCh37
Build 361115,630,116 - 115,630,193RGDNCBI36
Celera1114,057,512 - 114,057,589RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,686,971 - 113,687,048UniSTS
TNG Radiation Hybrid Map163046.0UniSTS
GeneMap99-GB4 RH Map1374.01UniSTS
GeneMap99-GB4 RH Map1387.02UniSTS
Whitehead-RH Map1440.7UniSTS
hsbngfac  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,828,825 - 115,829,053UniSTSGRCh37
Build 361115,630,348 - 115,630,576RGDNCBI36
Celera1114,057,744 - 114,057,972RGD
Cytogenetic Map1p13.1UniSTS
HuRef1113,687,203 - 113,687,431UniSTS
GeneMap99-GB4 RH Map1387.02UniSTS
NGFB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,828,625 - 115,829,386UniSTSGRCh37
Celera1114,057,544 - 114,058,305UniSTS
HuRef1113,687,003 - 113,687,764UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2334 2779 2231 4873 1716 2302 5 617 899 457 2228 6166 5432 38 3667 1 836 1709 1576 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001437545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF150960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF411526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE045524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH358394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V01511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000369512   ⟹   ENSP00000358525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,285,917 - 115,338,249 (-)Ensembl
Ensembl Acc Id: ENST00000675637   ⟹   ENSP00000502831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,285,917 - 115,338,253 (-)Ensembl
Ensembl Acc Id: ENST00000676038   ⟹   ENSP00000502380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,285,904 - 115,338,256 (-)Ensembl
Ensembl Acc Id: ENST00000679806   ⟹   ENSP00000506492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,285,917 - 115,338,770 (-)Ensembl
Ensembl Acc Id: ENST00000680116   ⟹   ENSP00000505694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,285,917 - 115,338,249 (-)Ensembl
Ensembl Acc Id: ENST00000680540   ⟹   ENSP00000506569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,286,025 - 115,289,021 (-)Ensembl
Ensembl Acc Id: ENST00000680752   ⟹   ENSP00000505558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,286,025 - 115,338,459 (-)Ensembl
Ensembl Acc Id: ENST00000681124   ⟹   ENSP00000506364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,285,917 - 115,338,249 (-)Ensembl
RefSeq Acc Id: NM_002506   ⟹   NP_002497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,285,917 - 115,338,249 (-)NCBI
GRCh371115,828,537 - 115,880,857 (-)ENTREZGENE
Build 361115,630,060 - 115,682,380 (-)NCBI Archive
HuRef1113,686,915 - 113,739,240 (-)ENTREZGENE
CHM1_11115,943,440 - 115,995,752 (-)NCBI
T2T-CHM13v2.01115,297,082 - 115,349,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710663   ⟹   XP_006710726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,285,917 - 115,338,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541518   ⟹   XP_011539820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,285,917 - 115,303,458 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336789   ⟹   XP_054192764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01115,297,082 - 115,314,622 (-)NCBI
RefSeq Acc Id: XM_054336790   ⟹   XP_054192765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01115,297,082 - 115,349,408 (-)NCBI
RefSeq Acc Id: NP_002497   ⟸   NM_002506
- Peptide Label: precursor
- UniProtKB: Q9P2Q8 (UniProtKB/Swiss-Prot),   Q96P60 (UniProtKB/Swiss-Prot),   Q6FHA0 (UniProtKB/Swiss-Prot),   A1A4E5 (UniProtKB/Swiss-Prot),   Q9UKL8 (UniProtKB/Swiss-Prot),   P01138 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006710726   ⟸   XM_006710663
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011539820   ⟸   XM_011541518
- Peptide Label: isoform X1
- UniProtKB: A0A346FYQ1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000358525   ⟸   ENST00000369512
Ensembl Acc Id: ENSP00000502831   ⟸   ENST00000675637
Ensembl Acc Id: ENSP00000502380   ⟸   ENST00000676038
Ensembl Acc Id: ENSP00000505558   ⟸   ENST00000680752
Ensembl Acc Id: ENSP00000506364   ⟸   ENST00000681124
Ensembl Acc Id: ENSP00000505694   ⟸   ENST00000680116
Ensembl Acc Id: ENSP00000506492   ⟸   ENST00000679806
Ensembl Acc Id: ENSP00000506569   ⟸   ENST00000680540
RefSeq Acc Id: XP_054192765   ⟸   XM_054336790
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054192764   ⟸   XM_054336789
- Peptide Label: isoform X1
- UniProtKB: A0A346FYQ1 (UniProtKB/TrEMBL)
Protein Domains
Nerve growth factor-related

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01138-F1-model_v2 AlphaFold P01138 1-241 view protein structure

Promoters
RGD ID:6856726
Promoter ID:EPDNEW_H1528
Type:initiation region
Name:NGF_1
Description:nerve growth factor
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
GRCh381115,338,236 - 115,338,296EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7808 AgrOrtholog
COSMIC NGF COSMIC
Ensembl Genes ENSG00000134259 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369512 ENTREZGENE
  ENST00000369512.3 UniProtKB/Swiss-Prot
  ENST00000675637 ENTREZGENE
  ENST00000675637.2 UniProtKB/Swiss-Prot
  ENST00000676038.2 UniProtKB/Swiss-Prot
  ENST00000679806.1 UniProtKB/Swiss-Prot
  ENST00000680116.1 UniProtKB/Swiss-Prot
  ENST00000680540.1 UniProtKB/Swiss-Prot
  ENST00000680752.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
GTEx ENSG00000134259 GTEx
HGNC ID HGNC:7808 ENTREZGENE
Human Proteome Map NGF Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot
  Nerve_growth_factor-like UniProtKB/Swiss-Prot
  Nerve_growth_factor-rel UniProtKB/Swiss-Prot
  Nerve_growth_factor_bsu UniProtKB/Swiss-Prot
  Nerve_growth_factor_bsu_mml UniProtKB/Swiss-Prot
  Nerve_growth_factor_CS UniProtKB/Swiss-Prot
KEGG Report hsa:4803 UniProtKB/Swiss-Prot
NCBI Gene 4803 ENTREZGENE
OMIM 162030 OMIM
PANTHER BETA-NERVE GROWTH FACTOR UniProtKB/Swiss-Prot
  PTHR11589 UniProtKB/Swiss-Prot
Pfam NGF UniProtKB/Swiss-Prot
PharmGKB NGF RGD, PharmGKB
PIRSF NGF UniProtKB/Swiss-Prot
PRINTS MAMLNGFBETA UniProtKB/Swiss-Prot
  NGF UniProtKB/Swiss-Prot
  NGFBETA UniProtKB/Swiss-Prot
PROSITE NGF_1 UniProtKB/Swiss-Prot
  NGF_2 UniProtKB/Swiss-Prot
SMART NGF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot
UniProt A0A346FYQ1 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TAZ6_HUMAN UniProtKB/TrEMBL
  A1A4E5 ENTREZGENE
  NGF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6FHA0 ENTREZGENE
  Q96P60 ENTREZGENE
  Q9P2Q8 ENTREZGENE
  Q9UKL8 ENTREZGENE
UniProt Secondary A1A4E5 UniProtKB/Swiss-Prot
  Q6FHA0 UniProtKB/Swiss-Prot
  Q96P60 UniProtKB/Swiss-Prot
  Q9P2Q8 UniProtKB/Swiss-Prot
  Q9UKL8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 NGF  nerve growth factor  NGF  nerve growth factor (beta polypeptide)  Symbol and/or name change 5135510 APPROVED