GDNF (glial cell derived neurotrophic factor) - Rat Genome Database

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Gene: GDNF (glial cell derived neurotrophic factor) Homo sapiens
Analyze
Symbol: GDNF
Name: glial cell derived neurotrophic factor
RGD ID: 735823
HGNC Page HGNC
Description: Exhibits protein homodimerization activity. Involved in several processes, including negative regulation of apoptotic process; positive regulation of morphogenesis of an epithelium; and regulation of RNA metabolic process. Localizes to Golgi apparatus and extracellular region. Implicated in Hirschsprung's disease; congenital central hypoventilation syndrome; epilepsy; and pheochromocytoma. Biomarker of acoustic neuroma; autoimmune disease (multiple); neurodegenerative disease (multiple); pancreatic cancer; and vasculitis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: astrocyte-derived trophic factor; ATF; ATF1; ATF2; glial cell line derived neurotrophic factor; glial cell line-derived neurotrophic factor; HFB1-GDNF; hGDNF; HSCR3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl537,812,677 - 37,840,041 (-)EnsemblGRCh38hg38GRCh38
GRCh38537,812,677 - 37,840,044 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37537,812,779 - 37,840,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36537,851,510 - 37,875,539 (-)NCBINCBI36hg18NCBI36
Build 34537,851,509 - 37,870,655NCBI
Celera537,699,155 - 37,726,173 (-)NCBI
Cytogenetic Map5p13.2NCBI
HuRef537,765,313 - 37,792,316 (-)NCBIHuRef
CHM1_1537,814,804 - 37,841,806 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(R)-Salsolinol  (ISO)
(S)-AMPA  (ISO)
(S)-amphetamine  (EXP,ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (EXP,ISO)
13,14-dihydro-Delta(12)-prostaglandin J2  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3',5'-cyclic AMP  (EXP)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP,ISO)
agathisflavone  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
apigenin  (ISO)
apomorphine  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromocriptine  (ISO)
busulfan  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cabergoline  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chondroitin sulfate  (EXP)
chrysin  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
cyclophosphamide  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dabigatran  (ISO)
DDE  (ISO)
dermatan sulfate  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
dopamine  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
echinacoside  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
excitatory amino acid agonist  (ISO)
fenvalerate  (ISO)
fisetin  (ISO)
fluoranthene  (ISO)
fluoxetine  (ISO)
folpet  (ISO)
furan  (ISO)
genistein  (ISO)
geraniol  (ISO)
hydrogen peroxide  (ISO)
indole-3-methanol  (ISO)
iron(2+) sulfate (anhydrous)  (ISO)
L-ascorbic acid  (EXP)
linuron  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
manganese(II) chloride  (EXP)
Mazindol  (EXP)
methamphetamine  (ISO)
methylmercury chloride  (ISO)
methylphenidate  (ISO)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
oxidopamine  (EXP,ISO)
paraquat  (EXP,ISO)
pergolide  (ISO)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (ISO)
puerarin  (EXP)
rasagiline  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
rutin  (ISO)
salvianolic acid B  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
SKF 38393  (ISO)
sodium arsenite  (EXP,ISO)
sulfasalazine  (EXP)
telmisartan  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
vanoxerine dihydrochloride  (EXP)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult locomotory behavior  (TAS)
axon guidance  (TAS)
branching involved in ureteric bud morphogenesis  (ISO,ISS)
cell population proliferation  (ISO)
cellular response to dexamethasone stimulus  (ISO)
chemoattraction of axon  (IEA)
commissural neuron axon guidance  (ISS)
dorsal spinal cord development  (ISS)
embryonic organ development  (ISS)
enteric nervous system development  (ISS)
male gonad development  (ISO)
MAPK cascade  (TAS)
mesenchymal to epithelial transition involved in metanephros morphogenesis  (IEA,ISO)
metanephros development  (ISO,ISS)
midbrain development  (ISO)
mRNA stabilization  (IDA)
negative regulation of apoptotic process  (TAS)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IDA)
negative regulation of neuron apoptotic process  (IBA,IDA,ISO)
nervous system development  (ISO,TAS)
neural crest cell migration  (IDA)
neuron differentiation  (ISO)
neuron projection development  (IDA,TAS)
organ induction  (IEA,ISO)
peripheral nervous system development  (IBA,ISO)
peristalsis  (ISO,ISS)
positive regulation of branching involved in ureteric bud morphogenesis  (IBA,IDA)
positive regulation of cell differentiation  (IGI)
positive regulation of cell population proliferation  (IDA)
positive regulation of dopamine secretion  (TAS)
positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis  (IEA)
positive regulation of monooxygenase activity  (IDA)
positive regulation of peptidyl-tyrosine phosphorylation  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA)
positive regulation of ureteric bud formation  (IDA)
postganglionic parasympathetic fiber development  (ISS)
postsynaptic membrane organization  (IEA,ISO)
regulation of dopamine uptake involved in synaptic transmission  (IDA)
regulation of gene expression  (IGI)
regulation of morphogenesis of a branching structure  (ISO,ISS)
regulation of semaphorin-plexin signaling pathway  (ISS)
regulation of stem cell differentiation  (TAS)
regulation of ureteric bud formation  (ISO)
response to wounding  (ISO)
retina development in camera-type eye  (ISO)
signal transduction  (TAS)
sympathetic nervous system development  (ISS)
ureteric bud development  (ISO)
ureteric bud formation  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
1. Airavaara M, etal., J Biol Chem. 2011 Dec 30;286(52):45093-102. Epub 2011 Nov 11.
2. Backman CM, etal., Mol Cell Endocrinol. 2006 Jun 27;252(1-2):160-6. Epub 2006 Apr 27.
3. Cheng Q, etal., Neurosci Lett. 2008 Jul 4;439(1):24-9. Epub 2008 May 1.
4. GOA_HUMAN data from the GO Consortium
5. Hoke A, etal., Neuroreport. 2000 Jun 5;11(8):1651-4.
6. Impellizzeri D, etal., Biochem Pharmacol. 2012 Feb 8.
7. Isajevs S, etal., Medicina (Kaunas). 2011;47(10):552-9.
8. Kanter-Schlifke I, etal., Exp Neurol. 2009 Apr;216(2):413-9. Epub 2009 Jan 7.
9. Kramer F, etal., J Neurooncol. 2010 May;98(1):31-9. doi: 10.1007/s11060-009-0063-6. Epub 2009 Nov 25.
10. Lei Z, etal., J Neuropathol Exp Neurol. 2011 Sep;70(9):736-47.
11. Lindqvist N, etal., Exp Neurol. 2004 Jun;187(2):487-99.
12. OMIM Disease Annotation Pipeline
13. Online Mendelian Inheritance in Man, OMIM (TM).
14. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. RGD automated import pipeline for gene-chemical interactions
16. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Sellner J, etal., Brain Res Mol Brain Res. 2005 Jun 13;137(1-2):267-71. Epub 2005 Apr 22.
18. Sokolov ME, etal., Front Pharmacol. 2018 Feb 15;9:111. doi: 10.3389/fphar.2018.00111. eCollection 2018.
19. Sun M, etal., Brain Res. 2005 Aug 9;1052(2):119-29.
20. Ubhi K, etal., Exp Neurol. 2012 Jan 16.
21. Yamamoto M, etal., Brain Res. 1998 Nov 2;809(2):175-81.
22. Yamamoto M, etal., Neurochem Res. 1999 Jun;24(6):785-90.
23. Zeng Q, etal., J Int Med Res. 2008 Jul-Aug;36(4):656-64.
Additional References at PubMed
PMID:7490108   PMID:7830766   PMID:7830769   PMID:7867768   PMID:8493557   PMID:8522325   PMID:8637574   PMID:8657307   PMID:8674117   PMID:8896568   PMID:8896569   PMID:8968758  
PMID:8988018   PMID:9098026   PMID:9359036   PMID:9407096   PMID:9482105   PMID:9497256   PMID:9808338   PMID:9811930   PMID:9853901   PMID:10366742   PMID:10809797   PMID:10829012  
PMID:10917288   PMID:10921886   PMID:11181995   PMID:11565554   PMID:11588183   PMID:11600185   PMID:11732574   PMID:11756008   PMID:11790765   PMID:11823451   PMID:11842239   PMID:11844480  
PMID:11844483   PMID:11900567   PMID:11932334   PMID:11973622   PMID:12358785   PMID:12397373   PMID:12414995   PMID:12477932   PMID:12837245   PMID:12947332   PMID:15003293   PMID:15106825  
PMID:15207271   PMID:15211107   PMID:15242795   PMID:15489334   PMID:15708562   PMID:15817265   PMID:15870700   PMID:16081799   PMID:16125842   PMID:16497298   PMID:16569669   PMID:16820412  
PMID:16895582   PMID:17009072   PMID:17023388   PMID:17192954   PMID:17229286   PMID:17298301   PMID:17470563   PMID:17490619   PMID:17522305   PMID:17897812   PMID:17935603   PMID:18060868  
PMID:18081024   PMID:18222320   PMID:18313696   PMID:18343820   PMID:18353777   PMID:18454440   PMID:18845535   PMID:18970938   PMID:19086053   PMID:19183406   PMID:19184120   PMID:19188437  
PMID:19240061   PMID:19282698   PMID:19561646   PMID:19562947   PMID:19584438   PMID:19664536   PMID:19741036   PMID:19825405   PMID:19896648   PMID:20125088   PMID:20237496   PMID:20301600  
PMID:20301612   PMID:20301715   PMID:20422010   PMID:20426902   PMID:20448065   PMID:20479525   PMID:20518854   PMID:20538960   PMID:20544825   PMID:20601681   PMID:20677014   PMID:20700745  
PMID:20739562   PMID:20936708   PMID:20960036   PMID:21145461   PMID:21200028   PMID:21227937   PMID:21490379   PMID:21514351   PMID:21515689   PMID:21524799   PMID:21621608   PMID:21726557  
PMID:21738758   PMID:21769916   PMID:21820487   PMID:21839809   PMID:21858136   PMID:21873635   PMID:21994944   PMID:22002662   PMID:22019719   PMID:22142702   PMID:22251670   PMID:22326552  
PMID:22670840   PMID:22847529   PMID:22897442   PMID:22971345   PMID:22998873   PMID:23022671   PMID:23269553   PMID:23333276   PMID:23373701   PMID:23606280   PMID:23626767   PMID:23650283  
PMID:23717608   PMID:23769609   PMID:24022000   PMID:24070603   PMID:24165321   PMID:24247178   PMID:24324616   PMID:24619502   PMID:24635742   PMID:24778213   PMID:24861509   PMID:24899094  
PMID:24997227   PMID:25036711   PMID:25275256   PMID:25354171   PMID:25416956   PMID:25448159   PMID:25543333   PMID:25575823   PMID:25619885   PMID:25655772   PMID:25692823   PMID:25753832  
PMID:25869129   PMID:25910212   PMID:25913759   PMID:26096985   PMID:26186194   PMID:26215053   PMID:26232065   PMID:26337382   PMID:26549420   PMID:26871637   PMID:27180191   PMID:27288458  
PMID:27346872   PMID:27561780   PMID:27718082   PMID:27994179   PMID:28212546   PMID:28237042   PMID:28320272   PMID:28330616   PMID:28365701   PMID:28514442   PMID:28553016   PMID:28581212  
PMID:28689143   PMID:28819313   PMID:28891527   PMID:28918204   PMID:29018141   PMID:29031644   PMID:29114949   PMID:29208768   PMID:29750313   PMID:29955039   PMID:30059726   PMID:30176167  
PMID:30383193   PMID:30406716   PMID:30845150   PMID:31041673   PMID:31119595   PMID:31171625   PMID:31205031   PMID:31310388   PMID:31420036   PMID:31446765   PMID:31586073   PMID:31615875  
PMID:31762231   PMID:31820346   PMID:31936902   PMID:32062451   PMID:32084217   PMID:32183903   PMID:32296183   PMID:32438692   PMID:32802201   PMID:32803668   PMID:32808420   PMID:33688499  


Genomics

Comparative Map Data
GDNF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl537,812,677 - 37,840,041 (-)EnsemblGRCh38hg38GRCh38
GRCh38537,812,677 - 37,840,044 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37537,812,779 - 37,840,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36537,851,510 - 37,875,539 (-)NCBINCBI36hg18NCBI36
Build 34537,851,509 - 37,870,655NCBI
Celera537,699,155 - 37,726,173 (-)NCBI
Cytogenetic Map5p13.2NCBI
HuRef537,765,313 - 37,792,316 (-)NCBIHuRef
CHM1_1537,814,804 - 37,841,806 (-)NCBICHM1_1
Gdnf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39157,839,529 - 7,867,061 (+)NCBIGRCm39mm39
GRCm39 Ensembl157,840,327 - 7,867,056 (+)Ensembl
GRCm38157,810,048 - 7,837,580 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl157,810,846 - 7,837,575 (+)EnsemblGRCm38mm10GRCm38
MGSCv37157,761,011 - 7,787,575 (+)NCBIGRCm37mm9NCBIm37
MGSCv36157,758,226 - 7,784,790 (+)NCBImm8
Celera157,656,819 - 7,683,345 (+)NCBICelera
Cytogenetic Map15A1NCBI
Gdnf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2256,893,992 - 56,919,935 (+)NCBI
Rnor_6.0 Ensembl256,887,987 - 56,910,238 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0256,884,181 - 56,912,964 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0276,896,991 - 76,922,471 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4257,399,312 - 57,424,030 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1257,327,544 - 57,352,263 (+)NCBI
Celera252,510,468 - 52,532,694 (+)NCBICelera
Cytogenetic Map2q16NCBI
Gdnf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542622,386,450 - 22,412,324 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542622,386,613 - 22,412,324 (-)NCBIChiLan1.0ChiLan1.0
GDNF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1577,573,466 - 77,600,478 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl577,577,313 - 77,601,362 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0572,539,374 - 72,566,918 (+)NCBIMhudiblu_PPA_v0panPan3
GDNF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1470,966,694 - 70,991,860 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl470,971,432 - 70,989,714 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0471,483,108 - 71,516,105 (+)NCBI
UMICH_Zoey_3.1471,230,252 - 71,263,217 (+)NCBI
UNSW_CanFamBas_1.0471,343,690 - 71,376,610 (+)NCBI
UU_Cfam_GSD_1.0471,882,215 - 71,915,204 (+)NCBI
Gdnf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213227,058,585 - 227,083,871 (-)NCBI
SpeTri2.0NW_0049365184,291,391 - 4,310,752 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDNF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1622,936,601 - 22,965,886 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11622,936,602 - 22,965,929 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21624,176,604 - 24,179,641 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GDNF
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1436,662,033 - 36,691,761 (-)NCBI
ChlSab1.1 Ensembl436,665,009 - 36,684,257 (-)Ensembl
Vero_WHO_p1.0NW_02366607127,015,956 - 27,043,442 (-)NCBI
Gdnf
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475917,263,570 - 17,290,046 (+)NCBI

Position Markers
D5S2021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,817,678 - 37,817,790UniSTSGRCh37
Build 36537,853,435 - 37,853,547RGDNCBI36
Celera537,704,069 - 37,704,181RGD
Cytogenetic Map5p13.1-p12UniSTS
HuRef537,770,212 - 37,770,324UniSTS
Marshfield Genetic Map554.79RGD
Marshfield Genetic Map554.79UniSTS
Genethon Genetic Map554.4UniSTS
GeneMap99-GB4 RH Map5129.35UniSTS
Whitehead-YAC Contig Map5 UniSTS
Gdnf  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,815,757 - 37,815,994UniSTSGRCh37
GRCh37537,815,754 - 37,816,091UniSTSGRCh37
GRCh37537,815,827 - 37,815,967UniSTSGRCh37
Build 36537,851,514 - 37,851,751RGDNCBI36
Celera537,702,218 - 37,702,358UniSTS
Celera537,702,148 - 37,702,385RGD
Celera537,702,145 - 37,702,482UniSTS
HuRef537,768,361 - 37,768,501UniSTS
HuRef537,768,288 - 37,768,625UniSTS
HuRef537,768,291 - 37,768,528UniSTS
SHGC-148195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,824,120 - 37,824,451UniSTSGRCh37
Build 36537,859,877 - 37,860,208RGDNCBI36
Celera537,710,511 - 37,710,842RGD
Cytogenetic Map5p13.1-p12UniSTS
HuRef537,776,654 - 37,776,985UniSTS
TNG Radiation Hybrid Map518326.0UniSTS
RH70036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,812,891 - 37,813,062UniSTSGRCh37
Build 36537,848,648 - 37,848,819RGDNCBI36
Celera537,699,267 - 37,699,438RGD
Cytogenetic Map5p13.1-p12UniSTS
HuRef537,765,425 - 37,765,594UniSTS
GeneMap99-GB4 RH Map5127.65UniSTS
GDNF_3150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,815,726 - 37,816,201UniSTSGRCh37
Build 36537,851,483 - 37,851,958RGDNCBI36
Celera537,702,117 - 37,702,592RGD
HuRef537,768,260 - 37,768,735UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
Gdnf  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,815,757 - 37,815,994UniSTSGRCh37
GRCh37537,815,754 - 37,816,091UniSTSGRCh37
GRCh37537,815,827 - 37,815,967UniSTSGRCh37
Build 36537,851,514 - 37,851,751RGDNCBI36
Celera537,702,218 - 37,702,358UniSTS
Celera537,702,148 - 37,702,385RGD
Celera537,702,145 - 37,702,482UniSTS
HuRef537,768,361 - 37,768,501UniSTS
HuRef537,768,288 - 37,768,625UniSTS
HuRef537,768,291 - 37,768,528UniSTS
Gdnf  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37537,815,757 - 37,815,994UniSTSGRCh37
GRCh37537,815,754 - 37,816,091UniSTSGRCh37
GRCh37537,815,827 - 37,815,967UniSTSGRCh37
Build 36537,851,514 - 37,851,751RGDNCBI36
Celera537,702,218 - 37,702,358UniSTS
Celera537,702,148 - 37,702,385RGD
Celera537,702,145 - 37,702,482UniSTS
HuRef537,768,361 - 37,768,501UniSTS
HuRef537,768,288 - 37,768,625UniSTS
HuRef537,768,291 - 37,768,528UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3847
Count of miRNA genes:1017
Interacting mature miRNAs:1223
Transcripts:ENST00000326524, ENST00000344622, ENST00000381826, ENST00000427982, ENST00000502572, ENST00000510177, ENST00000515058
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 341 1 12 7 14 7 185 207 40 19 26 22 1 132
Low 1920 362 170 117 233 101 1638 1476 1369 131 1055 103 21 146 1206 2
Below cutoff 75 2008 1305 446 713 304 2460 476 2267 159 288 1169 145 1002 1422

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF053748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF053749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF063586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX014681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX014683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX014685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY052832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ235474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI949612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000326524   ⟹   ENSP00000317145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,812,677 - 37,840,041 (-)Ensembl
RefSeq Acc Id: ENST00000344622   ⟹   ENSP00000339703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,812,677 - 37,835,491 (-)Ensembl
RefSeq Acc Id: ENST00000381826   ⟹   ENSP00000371248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,815,651 - 37,835,827 (-)Ensembl
RefSeq Acc Id: ENST00000427982   ⟹   ENSP00000409007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,815,651 - 37,835,827 (-)Ensembl
RefSeq Acc Id: ENST00000502572   ⟹   ENSP00000423557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,816,026 - 37,835,491 (-)Ensembl
RefSeq Acc Id: ENST00000510177   ⟹   ENSP00000424592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,816,026 - 37,834,908 (-)Ensembl
RefSeq Acc Id: ENST00000515058   ⟹   ENSP00000425928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,815,651 - 37,839,686 (-)Ensembl
RefSeq Acc Id: ENST00000620847   ⟹   ENSP00000478722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl537,812,677 - 37,834,822 (-)Ensembl
RefSeq Acc Id: NM_000514   ⟹   NP_000505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38537,812,677 - 37,840,041 (-)NCBI
GRCh37537,812,779 - 37,839,782 (-)ENTREZGENE
Build 36537,851,510 - 37,875,539 (-)NCBI Archive
HuRef537,765,313 - 37,792,316 (-)ENTREZGENE
CHM1_1537,814,804 - 37,841,806 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190468   ⟹   NP_001177397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38537,812,677 - 37,835,827 (-)NCBI
GRCh37537,812,779 - 37,839,782 (-)ENTREZGENE
HuRef537,765,313 - 37,792,316 (-)ENTREZGENE
CHM1_1537,814,804 - 37,837,955 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190469   ⟹   NP_001177398
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38537,812,677 - 37,835,827 (-)NCBI
GRCh37537,812,779 - 37,839,782 (-)ENTREZGENE
HuRef537,765,313 - 37,792,316 (-)ENTREZGENE
CHM1_1537,814,804 - 37,837,955 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278098   ⟹   NP_001265027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38537,812,677 - 37,834,822 (-)NCBI
GRCh37537,812,779 - 37,839,782 (-)NCBI
HuRef537,765,313 - 37,792,316 (-)NCBI
CHM1_1537,814,804 - 37,836,950 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199231   ⟹   NP_954701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38537,812,677 - 37,835,491 (-)NCBI
GRCh37537,812,779 - 37,839,782 (-)ENTREZGENE
Build 36537,851,510 - 37,871,350 (-)NCBI Archive
HuRef537,765,313 - 37,792,316 (-)ENTREZGENE
CHM1_1537,814,804 - 37,837,619 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514030   ⟹   XP_011512332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38537,815,521 - 37,839,570 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009337   ⟹   XP_016864826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38537,815,521 - 37,840,044 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000505 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265027 (Get FASTA)   NCBI Sequence Viewer  
  NP_954701 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512332 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864826 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA67910 (Get FASTA)   NCBI Sequence Viewer  
  AAC98782 (Get FASTA)   NCBI Sequence Viewer  
  AAD43139 (Get FASTA)   NCBI Sequence Viewer  
  AAH08580 (Get FASTA)   NCBI Sequence Viewer  
  AAH69119 (Get FASTA)   NCBI Sequence Viewer  
  AAH69369 (Get FASTA)   NCBI Sequence Viewer  
  AAI28109 (Get FASTA)   NCBI Sequence Viewer  
  AAI28110 (Get FASTA)   NCBI Sequence Viewer  
  AAL11017 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33551 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33552 (Get FASTA)   NCBI Sequence Viewer  
  CAA05074 (Get FASTA)   NCBI Sequence Viewer  
  CAA05075 (Get FASTA)   NCBI Sequence Viewer  
  CAA05076 (Get FASTA)   NCBI Sequence Viewer  
  CAA05077 (Get FASTA)   NCBI Sequence Viewer  
  CAA05078 (Get FASTA)   NCBI Sequence Viewer  
  CAC07571 (Get FASTA)   NCBI Sequence Viewer  
  CAC07572 (Get FASTA)   NCBI Sequence Viewer  
  CAC07573 (Get FASTA)   NCBI Sequence Viewer  
  CAG46721 (Get FASTA)   NCBI Sequence Viewer  
  CBY79817 (Get FASTA)   NCBI Sequence Viewer  
  EAW55963 (Get FASTA)   NCBI Sequence Viewer  
  EAW55964 (Get FASTA)   NCBI Sequence Viewer  
  P39905 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000505   ⟸   NM_000514
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P39905 (UniProtKB/Swiss-Prot),   A0A0S2Z3V2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177398   ⟸   NM_001190469
- Peptide Label: isoform 4 precursor
- UniProtKB: P39905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177397   ⟸   NM_001190468
- Peptide Label: isoform 3
- UniProtKB: P39905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_954701   ⟸   NM_199231
- Peptide Label: isoform 2 precursor
- UniProtKB: P39905 (UniProtKB/Swiss-Prot),   A0A0S2Z3T2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265027   ⟸   NM_001278098
- Peptide Label: isoform 5
- UniProtKB: P39905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512332   ⟸   XM_011514030
- Peptide Label: isoform X2
- UniProtKB: P39905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864826   ⟸   XM_017009337
- Peptide Label: isoform X1
- UniProtKB: P39905 (UniProtKB/Swiss-Prot),   A0A0S2Z3T2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000478722   ⟸   ENST00000620847
RefSeq Acc Id: ENSP00000423557   ⟸   ENST00000502572
RefSeq Acc Id: ENSP00000409007   ⟸   ENST00000427982
RefSeq Acc Id: ENSP00000317145   ⟸   ENST00000326524
RefSeq Acc Id: ENSP00000424592   ⟸   ENST00000510177
RefSeq Acc Id: ENSP00000371248   ⟸   ENST00000381826
RefSeq Acc Id: ENSP00000425928   ⟸   ENST00000515058
RefSeq Acc Id: ENSP00000339703   ⟸   ENST00000344622
Protein Domains
TGF_BETA_2

Promoters
RGD ID:6869420
Promoter ID:EPDNEW_H7875
Type:initiation region
Name:GDNF_1
Description:glial cell derived neurotrophic 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
GRCh38537,834,750 - 37,834,810EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) single nucleotide variant Congenital central hypoventilation [RCV000009302]|Hirschsprung disease 3 [RCV000009301]|Pheochromocytoma, modifier of [RCV000009303]|not specified [RCV000150719] Chr5:37816010 [GRCh38]
Chr5:37816112 [GRCh37]
Chr5:5p13.2
pathogenic|risk factor|likely benign
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) single nucleotide variant Hirschsprung disease 3 [RCV000009304]|not specified [RCV000252402] Chr5:37815839 [GRCh38]
Chr5:37815941 [GRCh37]
Chr5:5p13.2
risk factor|benign|likely benign
NM_000514.4(GDNF):c.460A>T (p.Thr154Ser) single nucleotide variant Hirschsprung disease 3 [RCV000009305] Chr5:37815827 [GRCh38]
Chr5:37815929 [GRCh37]
Chr5:5p13.2
risk factor
NM_000514.4(GDNF):c.633C>G (p.Ile211Met) single nucleotide variant Hirschsprung disease 3 [RCV000009306] Chr5:37815654 [GRCh38]
Chr5:37815756 [GRCh37]
Chr5:5p13.2
risk factor
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12
pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1
pathogenic
GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 copy number gain See cases [RCV000051837] Chr5:37016043..39383281 [GRCh38]
Chr5:37016145..39383383 [GRCh37]
Chr5:37051902..39419140 [NCBI36]
Chr5:5p13.2-13.1
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
NM_000514.3(GDNF):c.611C>T (p.Ser204Phe) single nucleotide variant Malignant melanoma [RCV000066915] Chr5:37815676 [GRCh38]
Chr5:37815778 [GRCh37]
Chr5:37851535 [NCBI36]
Chr5:5p13.2
not provided
NM_000514.4(GDNF):c.540A>G (p.Arg180=) single nucleotide variant Hirschsprung disease 3 [RCV001154268]|not provided [RCV000861938]|not specified [RCV000177077] Chr5:37815747 [GRCh38]
Chr5:37815849 [GRCh37]
Chr5:5p13.2
benign
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p13.2(chr5:37543146-38120326)x3 copy number gain See cases [RCV000142360] Chr5:37543146..38120326 [GRCh38]
Chr5:37543248..38120428 [GRCh37]
Chr5:37579005..38156185 [NCBI36]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.429G>A (p.Arg143=) single nucleotide variant Hirschsprung disease 3 [RCV000264072]|not specified [RCV000150717] Chr5:37815858 [GRCh38]
Chr5:37815960 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*2651C>G single nucleotide variant Hirschsprung disease 3 [RCV000264150] Chr5:37813000 [GRCh38]
Chr5:37813102 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2440G>A single nucleotide variant Hirschsprung disease 3 [RCV000261178] Chr5:37813211 [GRCh38]
Chr5:37813313 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
NM_000514.4(GDNF):c.222A>G (p.Arg74=) single nucleotide variant not provided [RCV000864407]|not specified [RCV000219081] Chr5:37816065 [GRCh38]
Chr5:37816167 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*907G>A single nucleotide variant Hirschsprung disease 3 [RCV000279689] Chr5:37814744 [GRCh38]
Chr5:37814846 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*988A>G single nucleotide variant Hirschsprung disease 3 [RCV000281075] Chr5:37814663 [GRCh38]
Chr5:37814765 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*1592G>T single nucleotide variant Hirschsprung disease 3 [RCV000276969] Chr5:37814059 [GRCh38]
Chr5:37814161 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_000514.4(GDNF):c.-51A>G single nucleotide variant Hirschsprung disease 3 [RCV000321581] Chr5:37839531 [GRCh38]
Chr5:37839633 [GRCh37]
Chr5:5p13.2
benign
NM_000514.4(GDNF):c.*1605T>C single nucleotide variant Hirschsprung disease 3 [RCV000353012] Chr5:37814046 [GRCh38]
Chr5:37814148 [GRCh37]
Chr5:5p13.2
benign
NM_000514.4(GDNF):c.*2643C>T single nucleotide variant Hirschsprung disease 3 [RCV000300633] Chr5:37813008 [GRCh38]
Chr5:37813110 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*2204G>T single nucleotide variant Hirschsprung disease 3 [RCV000316365] Chr5:37813447 [GRCh38]
Chr5:37813549 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*1004T>C single nucleotide variant Hirschsprung disease 3 [RCV000377903] Chr5:37814647 [GRCh38]
Chr5:37814749 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*1264C>T single nucleotide variant Hirschsprung disease 3 [RCV000379122] Chr5:37814387 [GRCh38]
Chr5:37814489 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*1785G>T single nucleotide variant Hirschsprung disease 3 [RCV000288525] Chr5:37813866 [GRCh38]
Chr5:37813968 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*2713G>A single nucleotide variant Hirschsprung disease 3 [RCV000358854] Chr5:37812938 [GRCh38]
Chr5:37813040 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*2829_*2830del deletion Hirschsprung Disease, Dominant [RCV000403695] Chr5:37812821..37812822 [GRCh38]
Chr5:37812923..37812924 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1627C>T single nucleotide variant Hirschsprung disease 3 [RCV000404091] Chr5:37814024 [GRCh38]
Chr5:37814126 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2828T>A single nucleotide variant Hirschsprung disease 3 [RCV000304090] Chr5:37812823 [GRCh38]
Chr5:37812925 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1141C>A single nucleotide variant Hirschsprung disease 3 [RCV000339598] Chr5:37814510 [GRCh38]
Chr5:37814612 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*1651A>G single nucleotide variant Hirschsprung disease 3 [RCV000340014] Chr5:37814000 [GRCh38]
Chr5:37814102 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*1389A>G single nucleotide variant Hirschsprung disease 3 [RCV000383255] Chr5:37814262 [GRCh38]
Chr5:37814364 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*717T>G single nucleotide variant Hirschsprung disease 3 [RCV000406383] Chr5:37814934 [GRCh38]
Chr5:37815036 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*93A>T single nucleotide variant Hirschsprung disease 3 [RCV000322702] Chr5:37815558 [GRCh38]
Chr5:37815660 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*2014G>A single nucleotide variant Hirschsprung disease 3 [RCV000385872] Chr5:37813637 [GRCh38]
Chr5:37813739 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_000514.4(GDNF):c.*2883G>A single nucleotide variant Hirschsprung disease 3 [RCV000343562] Chr5:37812768 [GRCh38]
Chr5:37812870 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*1276A>G single nucleotide variant Hirschsprung disease 3 [RCV000326850] Chr5:37814375 [GRCh38]
Chr5:37814477 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*2162G>T single nucleotide variant Hirschsprung disease 3 [RCV000389544] Chr5:37813489 [GRCh38]
Chr5:37813591 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*363A>T single nucleotide variant Hirschsprung disease 3 [RCV000390570] Chr5:37815288 [GRCh38]
Chr5:37815390 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*346C>T single nucleotide variant Hirschsprung disease 3 [RCV000310241] Chr5:37815305 [GRCh38]
Chr5:37815407 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1898C>A single nucleotide variant Hirschsprung disease 3 [RCV000346962] Chr5:37813753 [GRCh38]
Chr5:37813855 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*1541T>A single nucleotide variant Hirschsprung disease 3 [RCV000368113] Chr5:37814110 [GRCh38]
Chr5:37814212 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*529G>A single nucleotide variant Hirschsprung disease 3 [RCV000368449] Chr5:37815122 [GRCh38]
Chr5:37815224 [GRCh37]
Chr5:5p13.2
benign|likely benign
NM_000514.4(GDNF):c.*131_*133GGA[10] microsatellite Hirschsprung Disease, Dominant [RCV000362220] Chr5:37815488..37815490 [GRCh38]
Chr5:37815590..37815592 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*1406G>A single nucleotide variant Hirschsprung disease 3 [RCV000328639] Chr5:37814245 [GRCh38]
Chr5:37814347 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_000514.4(GDNF):c.*1693G>T single nucleotide variant Hirschsprung disease 3 [RCV000392479] Chr5:37813958 [GRCh38]
Chr5:37814060 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
NM_000514.4(GDNF):c.*1612C>A single nucleotide variant Hirschsprung disease 3 [RCV000298094] Chr5:37814039 [GRCh38]
Chr5:37814141 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*128_*133del deletion Hirschsprung Disease, Dominant [RCV000269830] Chr5:37815518..37815523 [GRCh38]
Chr5:37815620..37815625 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1331G>C single nucleotide variant Hirschsprung disease 3 [RCV000269498] Chr5:37814320 [GRCh38]
Chr5:37814422 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1534G>A single nucleotide variant Hirschsprung disease 3 [RCV000273539] Chr5:37814117 [GRCh38]
Chr5:37814219 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2067del deletion Hirschsprung Disease, Dominant [RCV000276349] Chr5:37813584 [GRCh38]
Chr5:37813686 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.61C>T (p.Pro21Ser) single nucleotide variant not provided [RCV000369081] Chr5:37834736 [GRCh38]
Chr5:37834838 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1927C>T single nucleotide variant Hirschsprung disease 3 [RCV000291626] Chr5:37813724 [GRCh38]
Chr5:37813826 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1657C>A single nucleotide variant Hirschsprung disease 3 [RCV000303816] Chr5:37813994 [GRCh38]
Chr5:37814096 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2059C>T single nucleotide variant Hirschsprung disease 3 [RCV000331471] Chr5:37813592 [GRCh38]
Chr5:37813694 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1788G>A single nucleotide variant Hirschsprung disease 3 [RCV000382852] Chr5:37813863 [GRCh38]
Chr5:37813965 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*807G>A single nucleotide variant Hirschsprung disease 3 [RCV000351068] Chr5:37814844 [GRCh38]
Chr5:37814946 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*958A>C single nucleotide variant Hirschsprung disease 3 [RCV000338422] Chr5:37814693 [GRCh38]
Chr5:37814795 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1244A>G single nucleotide variant Hirschsprung disease 3 [RCV000287028] Chr5:37814407 [GRCh38]
Chr5:37814509 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2556T>A single nucleotide variant Hirschsprung disease 3 [RCV000356090] Chr5:37813095 [GRCh38]
Chr5:37813197 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*912A>G single nucleotide variant Hirschsprung disease 3 [RCV000393465] Chr5:37814739 [GRCh38]
Chr5:37814841 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*532A>G single nucleotide variant Hirschsprung disease 3 [RCV000311455] Chr5:37815119 [GRCh38]
Chr5:37815221 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1587G>T single nucleotide variant Hirschsprung disease 3 [RCV000313332] Chr5:37814064 [GRCh38]
Chr5:37814166 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1713C>T single nucleotide variant Hirschsprung disease 3 [RCV000343530] Chr5:37813938 [GRCh38]
Chr5:37814040 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.-227_-225CGG[6] microsatellite Hirschsprung Disease, Dominant [RCV000300387] Chr5:37839692..37839693 [GRCh38]
Chr5:37839794..37839795 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3 copy number gain See cases [RCV000447631] Chr5:37298599..39311411 [GRCh37]
Chr5:5p13.2-13.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) deletion Hirschsprung disease 1 [RCV000508620] Chr5:37815657..37815662 [GRCh38]
Chr5:37815759..37815764 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_000514.4(GDNF):c.138G>A (p.Ala46=) single nucleotide variant not provided [RCV000595359] Chr5:37834659 [GRCh38]
Chr5:37834761 [GRCh37]
Chr5:5p13.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p13.2(chr5:37839726-37840621)x1 copy number loss not provided [RCV000744653] Chr5:37839726..37840621 [GRCh37]
Chr5:5p13.2
benign
NM_000514.4(GDNF):c.151+9C>T single nucleotide variant not provided [RCV000876815] Chr5:37834637 [GRCh38]
Chr5:37834739 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*450C>T single nucleotide variant Hirschsprung disease 3 [RCV001151198] Chr5:37815201 [GRCh38]
Chr5:37815303 [GRCh37]
Chr5:5p13.2
benign
NM_000514.4(GDNF):c.*5G>A single nucleotide variant Hirschsprung disease 3 [RCV001154267]|not specified [RCV000825928] Chr5:37815646 [GRCh38]
Chr5:37815748 [GRCh37]
Chr5:5p13.2
likely benign|uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_000514.4(GDNF):c.310A>G (p.Arg104Gly) single nucleotide variant not provided [RCV000862287] Chr5:37815977 [GRCh38]
Chr5:37816079 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_000514.4(GDNF):c.*617A>G single nucleotide variant Hirschsprung disease 3 [RCV001151197] Chr5:37815034 [GRCh38]
Chr5:37815136 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.-26G>T single nucleotide variant Hirschsprung disease 3 [RCV001197611] Chr5:37834822 [GRCh38]
Chr5:37834924 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2213G>A single nucleotide variant Hirschsprung disease 3 [RCV001154882] Chr5:37813438 [GRCh38]
Chr5:37813540 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*795C>T single nucleotide variant Hirschsprung disease 3 [RCV001151196] Chr5:37814856 [GRCh38]
Chr5:37814958 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.345C>T (p.Asn115=) single nucleotide variant not provided [RCV000908755] Chr5:37815942 [GRCh38]
Chr5:37816044 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.447C>T (p.Cys149=) single nucleotide variant not provided [RCV000863135] Chr5:37815840 [GRCh38]
Chr5:37815942 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*2646C>G single nucleotide variant Hirschsprung disease 3 [RCV001154036] Chr5:37813005 [GRCh38]
Chr5:37813107 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*131G>A single nucleotide variant Hirschsprung disease 3 [RCV001154265] Chr5:37815520 [GRCh38]
Chr5:37815622 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2446G>A single nucleotide variant Hirschsprung disease 3 [RCV001154878] Chr5:37813205 [GRCh38]
Chr5:37813307 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1246C>T single nucleotide variant Hirschsprung disease 3 [RCV001156657] Chr5:37814405 [GRCh38]
Chr5:37814507 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2318G>A single nucleotide variant Hirschsprung disease 3 [RCV001154879] Chr5:37813333 [GRCh38]
Chr5:37813435 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2150T>G single nucleotide variant Hirschsprung disease 3 [RCV001156553] Chr5:37813501 [GRCh38]
Chr5:37813603 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*2119C>G single nucleotide variant Hirschsprung disease 3 [RCV001156554] Chr5:37813532 [GRCh38]
Chr5:37813634 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1199A>T single nucleotide variant Hirschsprung disease 3 [RCV001156658] Chr5:37814452 [GRCh38]
Chr5:37814554 [GRCh37]
Chr5:5p13.2
benign
NM_000514.4(GDNF):c.347G>A (p.Arg116Gln) single nucleotide variant Hirschsprung disease 3 [RCV001155105] Chr5:37815940 [GRCh38]
Chr5:37816042 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.292G>T (p.Ala98Ser) single nucleotide variant Hirschsprung disease 3 [RCV001155106] Chr5:37815995 [GRCh38]
Chr5:37816097 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.-34G>T single nucleotide variant Hirschsprung disease 3 [RCV001155109] Chr5:37839514 [GRCh38]
Chr5:37839616 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.-42G>T single nucleotide variant Hirschsprung disease 3 [RCV001156761] Chr5:37839522 [GRCh38]
Chr5:37839624 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1699G>C single nucleotide variant Hirschsprung disease 3 [RCV001152876] Chr5:37813952 [GRCh38]
Chr5:37814054 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2267G>A single nucleotide variant Hirschsprung disease 3 [RCV001154880] Chr5:37813384 [GRCh38]
Chr5:37813486 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.151+9C>G single nucleotide variant Hirschsprung disease 3 [RCV001155108] Chr5:37834637 [GRCh38]
Chr5:37834739 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.390G>T (p.Leu130Phe) single nucleotide variant Hirschsprung disease 3 [RCV001196156] Chr5:37815897 [GRCh38]
Chr5:37815999 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.272G>A (p.Arg91Gln) single nucleotide variant Hirschsprung disease 3 [RCV001155107] Chr5:37816015 [GRCh38]
Chr5:37816117 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.-132G>C single nucleotide variant Hirschsprung disease 3 [RCV001156762] Chr5:37839612 [GRCh38]
Chr5:37839714 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*116G>T single nucleotide variant Hirschsprung disease 3 [RCV001154266] Chr5:37815535 [GRCh38]
Chr5:37815637 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1433A>T single nucleotide variant Hirschsprung disease 3 [RCV001154995] Chr5:37814218 [GRCh38]
Chr5:37814320 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1540A>G single nucleotide variant Hirschsprung disease 3 [RCV001154157] Chr5:37814111 [GRCh38]
Chr5:37814213 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*235G>T single nucleotide variant Hirschsprung disease 3 [RCV001154264] Chr5:37815416 [GRCh38]
Chr5:37815518 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*2265T>C single nucleotide variant Hirschsprung disease 3 [RCV001154881] Chr5:37813386 [GRCh38]
Chr5:37813488 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1375T>C single nucleotide variant Hirschsprung disease 3 [RCV001154996] Chr5:37814276 [GRCh38]
Chr5:37814378 [GRCh37]
Chr5:5p13.2
likely benign
NM_000514.4(GDNF):c.*1360A>G single nucleotide variant Hirschsprung disease 3 [RCV001154997] Chr5:37814291 [GRCh38]
Chr5:37814393 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_000514.4(GDNF):c.*1782G>A single nucleotide variant Hirschsprung disease 3 [RCV001152875] Chr5:37813869 [GRCh38]
Chr5:37813971 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p13.2(chr5:36960223-37813255)x3 copy number gain not provided [RCV001258678] Chr5:36960223..37813255 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4232 AgrOrtholog
COSMIC GDNF COSMIC
Ensembl Genes ENSG00000168621 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000317145 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000339703 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371248 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000409007 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423557 UniProtKB/TrEMBL
  ENSP00000424592 UniProtKB/TrEMBL
  ENSP00000425928 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478722 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000326524 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000344622 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427982 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502572 UniProtKB/TrEMBL
  ENST00000510177 UniProtKB/TrEMBL
  ENST00000515058 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620847 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168621 GTEx
HGNC ID HGNC:4232 ENTREZGENE
Human Proteome Map GDNF Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDNF_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2668 ENTREZGENE
OMIM 171300 OMIM
  209880 OMIM
  600837 OMIM
  613711 OMIM
PANTHER PTHR12173 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12173:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28644 PharmGKB
PIRSF GDNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGC2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3T2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3V2 ENTREZGENE, UniProtKB/TrEMBL
  GDNF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B7WPK7 UniProtKB/Swiss-Prot
  O95448 UniProtKB/Swiss-Prot
  O95449 UniProtKB/Swiss-Prot
  O95986 UniProtKB/Swiss-Prot
  Q6FH33 UniProtKB/Swiss-Prot
  Q96L44 UniProtKB/Swiss-Prot
  Q9UD32 UniProtKB/Swiss-Prot
  Q9UD33 UniProtKB/Swiss-Prot
  Q9UMV2 UniProtKB/Swiss-Prot
  Q9UP67 UniProtKB/Swiss-Prot
  Q9UP97 UniProtKB/Swiss-Prot