PENK (proenkephalin) - Rat Genome Database

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Gene: PENK (proenkephalin) Homo sapiens
Analyze
Symbol: PENK
Name: proenkephalin
RGD ID: 68998
HGNC Page HGNC:8831
Description: Predicted to enable opioid peptide activity and opioid receptor binding activity. Predicted to be involved in several processes, including chemical synaptic transmission; neuropeptide signaling pathway; and regulation of long-term synaptic depression. Predicted to act upstream of or within several processes, including behavioral fear response; sensory perception of pain; and startle response. Predicted to be located in endoplasmic reticulum lumen and extracellular region. Predicted to be active in several cellular components, including axon terminus; cytoplasmic vesicle lumen; and neuronal cell body. Implicated in overactive bladder syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: enkephalin A; PE; PENK-A; peptide F; preproenkephalin; proenkephalin-A
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
GRCh38856,440,957 - 56,446,641 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,436,674 - 56,446,671 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,353,516 - 57,359,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,516,070 - 57,521,143 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,516,069 - 57,521,143NCBI
Celera853,344,310 - 53,350,077 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,820,608 - 52,826,373 (-)NCBIHuRef
CHM1_1857,405,395 - 57,411,158 (-)NCBICHM1_1
T2T-CHM13v2.0856,818,203 - 56,823,883 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-nitropropanoic acid  (ISO)
3alpha-hydroxy-5beta-pregnan-20-one  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
aconitine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
amphetamine  (EXP,ISO)
apomorphine  (ISO)
arsenite(3-)  (EXP,ISO)
atrazine  (ISO)
baclofen  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butan-1-ol  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
clozapine  (ISO)
cocaine  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
D-glucose  (ISO)
DDT  (ISO)
diazepam  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP)
ethanol  (EXP,ISO)
finasteride  (ISO)
fluoxetine  (ISO)
flurbiprofen  (ISO)
folic acid  (ISO)
fomepizole  (EXP)
fonofos  (EXP)
formaldehyde  (ISO)
fructose  (ISO)
furan  (ISO)
glucose  (ISO)
haloperidol  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
isoprenaline  (ISO)
Isradipine  (ISO)
istradefylline  (ISO)
kainic acid  (ISO)
medroxyprogesterone acetate  (EXP)
memantine  (ISO)
mercaptopurine  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
Methanandamide  (ISO)
methylmercury chloride  (EXP)
metoprolol  (ISO)
morphine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (ISO)
nicotine  (ISO)
oxaliplatin  (ISO)
oxidopamine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
PCB138  (ISO)
pentobarbital  (ISO)
phenformin  (ISO)
phosphatidic acid  (ISO)
progesterone  (ISO)
propranolol  (ISO)
purine-6-thiol  (ISO)
reserpine  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
scopolamine  (ISO)
serotonin  (ISO)
SL-327  (ISO)
Soman  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
terbufos  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
thiopental  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
U69593  (ISO)
undecane  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Prolonged generalized dystonia after chronic cerebellar application of kainic acid. Alvarez-Fischer D, etal., Brain Res. 2012 Jun 29;1464:82-8. doi: 10.1016/j.brainres.2012.05.007. Epub 2012 May 15.
2. Increased enkephalin in brain of rats prone to overconsuming a fat-rich diet. Chang GQ, etal., Physiol Behav. 2010 Oct 5;101(3):360-9. doi: 10.1016/j.physbeh.2010.06.005. Epub 2010 Jul 21.
3. Relevance between striatal expression of Fos, proenkephalin mRNA, prodynorphin mRNA and rotation induced by l-stepholidine in 6-hydroxydopamine-lesioned rats. Ding YM, etal., Acta Pharmacol Sin. 2000 Oct;21(10):885-92.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. [Affection of acupotomy lysis on leu-enkephalin (L-ENK) content in different parts of centrum of rats with knee osteoarthritis]. Guo CQ, etal., Zhongguo Gu Shang. 2011 Aug;24(8):656-8.
6. Calcium-permeable AMPA receptors are involved in the induction and expression of l-DOPA-induced dyskinesia in Parkinson's disease. Kobylecki C, etal., J Neurochem. 2010 Jul;114(2):499-511. doi: 10.1111/j.1471-4159.2010.06776.x. Epub 2010 Apr 28.
7. The influence of group III metabotropic glutamate receptor stimulation by (1S,3R,4S)-1-aminocyclo-pentane-1,3,4-tricarboxylic acid on the parkinsonian-like akinesia and striatal proenkephalin and prodynorphin mRNA expression in rats. Konieczny J, etal., Neuroscience. 2007 Mar 16;145(2):611-20. doi: 10.1016/j.neuroscience.2006.12.006. Epub 2007 Jan 16.
8. Proenkephalin and prodynorphin mRNA level in brain of rats with absence epilepsy. Lasoń W, etal., Neuropeptides. 1994 Dec;27(6):343-7. doi: 10.1016/0143-4179(94)90060-4.
9. Embryonic ventral mesencephalic grafts improve levodopa-induced dyskinesia in a rat model of Parkinson's disease. Lee CS, etal., Brain. 2000 Jul;123 ( Pt 7):1365-79. doi: 10.1093/brain/123.7.1365.
10. From unilateral to bilateral parkinsonism: Effects of lateralization on dyskinesias and associated molecular mechanisms. Marin C, etal., Neuropharmacology. 2015 Oct;97:365-75. doi: 10.1016/j.neuropharm.2015.06.004. Epub 2015 Jun 22.
11. Disturbances in behavior and cortical enkephalin gene expression during the anticipation of ethanol in rats characterized as high drinkers. Morganstern I, etal., Alcohol. 2012 Sep;46(6):559-68. doi: 10.1016/j.alcohol.2012.05.003. Epub 2012 Jun 14.
12. Enkephalin downregulation in the nucleus accumbens underlies chronic stress-induced anhedonia. Poulin JF, etal., Stress. 2014 Jan;17(1):88-96. doi: 10.3109/10253890.2013.850669. Epub 2013 Oct 31.
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Proenkephalin mediates the enduring effects of adolescent cannabis exposure associated with adult opiate vulnerability. Tomasiewicz HC, etal., Biol Psychiatry. 2012 Nov 15;72(10):803-10. doi: 10.1016/j.biopsych.2012.04.026. Epub 2012 Jun 8.
16. Comparative effectiveness of antinociceptive gene therapies in animal models of diabetic neuropathic pain. Wang Y, etal., Gene Ther. 2013 Jul;20(7):742-50. doi: 10.1038/gt.2012.90. Epub 2012 Dec 13.
17. HPLC/MS/MS for quantification of two types of neurotransmitters in rat brain and application: myocardial ischemia and protection of Sheng-Mai-San. Xu N, etal., J Pharm Biomed Anal. 2011 Apr 28;55(1):101-8. doi: 10.1016/j.jpba.2010.12.015. Epub 2010 Dec 21.
18. Effects of herpes simplex virus vector-mediated enkephalin gene therapy on bladder overactivity and nociception. Yokoyama H, etal., Hum Gene Ther. 2013 Feb;24(2):170-80. doi: 10.1089/hum.2011.180. Epub 2013 Feb 14.
Additional References at PubMed
PMID:1729392   PMID:2893547   PMID:6281660   PMID:6761648   PMID:7057924   PMID:7559749   PMID:7560016   PMID:7704301   PMID:7759618   PMID:7829101   PMID:8206338   PMID:8858927  
PMID:9126357   PMID:9357452   PMID:11140838   PMID:12000709   PMID:12477932   PMID:15342556   PMID:15489334   PMID:16406203   PMID:16621157   PMID:17074347   PMID:17198183   PMID:17503481  
PMID:17599100   PMID:18082911   PMID:18184800   PMID:18240029   PMID:18391951   PMID:18577758   PMID:19086053   PMID:19874574   PMID:20207019   PMID:20379614   PMID:20546612   PMID:20628265  
PMID:20734064   PMID:21810780   PMID:21873635   PMID:22102294   PMID:22391864   PMID:22393040   PMID:22745721   PMID:23395721   PMID:23597562   PMID:23937196   PMID:24289328   PMID:24496384  
PMID:24727154   PMID:24937654   PMID:24937655   PMID:24961912   PMID:25891176   PMID:26029055   PMID:26164485   PMID:26186194   PMID:26218633   PMID:26634308   PMID:28263851   PMID:28514442  
PMID:29030229   PMID:29466891   PMID:29673232   PMID:31091993   PMID:31973568   PMID:32334633   PMID:33961781   PMID:38057904   PMID:38200454  


Genomics

Comparative Map Data
PENK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,440,957 - 56,446,641 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,436,674 - 56,446,671 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,353,516 - 57,359,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,516,070 - 57,521,143 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,516,069 - 57,521,143NCBI
Celera853,344,310 - 53,350,077 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,820,608 - 52,826,373 (-)NCBIHuRef
CHM1_1857,405,395 - 57,411,158 (-)NCBICHM1_1
T2T-CHM13v2.0856,818,203 - 56,823,883 (-)NCBIT2T-CHM13v2.0
Penk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3944,133,536 - 4,138,815 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl44,133,531 - 4,138,819 (-)EnsemblGRCm39 Ensembl
GRCm3844,133,536 - 4,138,815 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl44,133,531 - 4,138,819 (-)EnsemblGRCm38mm10GRCm38
MGSCv3744,060,683 - 4,065,592 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3644,060,683 - 4,065,592 (-)NCBIMGSCv36mm8
Celera44,092,742 - 4,097,651 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map42.31NCBI
Penk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8521,981,381 - 21,987,074 (-)NCBIGRCr8
mRatBN7.2517,183,799 - 17,189,160 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl517,183,806 - 17,189,129 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx519,402,516 - 19,407,452 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0521,001,023 - 21,005,959 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0520,754,402 - 20,759,344 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0517,056,412 - 17,061,762 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl517,056,419 - 17,061,837 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0521,834,409 - 21,839,759 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4517,509,323 - 17,514,265 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1517,516,079 - 17,517,452 (-)NCBI
Celera516,529,164 - 16,534,106 (-)NCBICelera
Cytogenetic Map5q12NCBI
Penk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545415,426,017 - 15,426,685 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545415,425,712 - 15,426,685 (-)NCBIChiLan1.0ChiLan1.0
PENK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2772,075,726 - 72,081,540 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1847,800,250 - 47,806,064 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0852,864,388 - 52,870,144 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1850,234,170 - 50,239,949 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl850,234,170 - 50,239,949 (-)Ensemblpanpan1.1panPan2
PENK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1297,757,543 - 7,763,137 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl297,757,857 - 7,762,398 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha298,069,914 - 8,075,462 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0297,832,106 - 7,837,657 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1297,844,842 - 7,850,120 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0297,975,639 - 7,980,923 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0298,254,882 - 8,260,429 (-)NCBIUU_Cfam_GSD_1.0
Penk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530371,763,745 - 71,769,230 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364963,016,218 - 3,021,738 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364963,016,247 - 3,021,726 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PENK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl475,525,555 - 75,530,876 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1475,525,497 - 75,530,403 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2482,444,889 - 82,449,745 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PENK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1852,458,113 - 52,463,933 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl852,457,904 - 52,463,859 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603989,329,730 - 89,335,563 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Penk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248863,595,450 - 3,613,593 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248863,595,485 - 3,613,117 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PENK
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1		 pathogenic
NM_001135690.1(PENK):c.423G>A (p.Lys141=) single nucleotide variant Malignant melanoma [RCV000068355] Chr8:56441653 [GRCh38]
Chr8:57354212 [GRCh37]
Chr8:57516766 [NCBI36]
Chr8:8q12.1		 not provided
NM_001135690.1(PENK):c.229C>T (p.Pro77Ser) single nucleotide variant Malignant melanoma [RCV000061813] Chr8:56441847 [GRCh38]
Chr8:57354406 [GRCh37]
Chr8:57516960 [NCBI36]
Chr8:8q12.1		 not provided
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1 copy number loss See cases [RCV000142992] Chr8:54764950..56785299 [GRCh38]
Chr8:55677510..57697858 [GRCh37]
Chr8:55840064..57860412 [NCBI36]
Chr8:8q12.1		 pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1		 pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:56220544-57002161)x3 copy number gain See cases [RCV000143778] Chr8:56220544..57002161 [GRCh38]
Chr8:57133103..57914720 [GRCh37]
Chr8:57295657..58077274 [NCBI36]
Chr8:8q12.1		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1 copy number loss See cases [RCV000240504] Chr8:56405320..57358911 [GRCh37]
Chr8:8q12.1		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001135690.3(PENK):c.279C>A (p.Ser93Arg) single nucleotide variant not specified [RCV004300735] Chr8:56441797 [GRCh38]
Chr8:57354356 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1		 pathogenic
NM_001135690.3(PENK):c.255A>G (p.Arg85=) single nucleotide variant not provided [RCV000894002] Chr8:56441821 [GRCh38]
Chr8:57354380 [GRCh37]
Chr8:8q12.1		 benign
NM_001135690.3(PENK):c.248C>A (p.Thr83Asn) single nucleotide variant not provided [RCV000947112] Chr8:56441828 [GRCh38]
Chr8:57354387 [GRCh37]
Chr8:8q12.1		 benign
NM_001135690.3(PENK):c.66G>A (p.Val22=) single nucleotide variant not provided [RCV000925351] Chr8:56445888 [GRCh38]
Chr8:57358447 [GRCh37]
Chr8:8q12.1		 benign
NM_001135690.3(PENK):c.139-9T>C single nucleotide variant not provided [RCV000915304] Chr8:56441946 [GRCh38]
Chr8:57354505 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001135690.3(PENK):c.783C>T (p.Tyr261=) single nucleotide variant not provided [RCV000961867] Chr8:56441293 [GRCh38]
Chr8:57353852 [GRCh37]
Chr8:8q12.1		 benign
NM_001135690.3(PENK):c.729C>T (p.Ser243=) single nucleotide variant not provided [RCV000961868] Chr8:56441347 [GRCh38]
Chr8:57353906 [GRCh37]
Chr8:8q12.1		 benign
NM_001135690.3(PENK):c.647G>A (p.Arg216Lys) single nucleotide variant not provided [RCV000886679] Chr8:56441429 [GRCh38]
Chr8:57353988 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001135690.3(PENK):c.261T>C (p.Asn87=) single nucleotide variant not provided [RCV000926830] Chr8:56441815 [GRCh38]
Chr8:57354374 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.10:g.(?_56854419)_(57906144_?)dup duplication not provided [RCV002020622] Chr8:56854419..57906144 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.73G>A (p.Glu25Lys) single nucleotide variant not specified [RCV004156245] Chr8:56445881 [GRCh38]
Chr8:57358440 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.656G>A (p.Arg219His) single nucleotide variant not specified [RCV004207731] Chr8:56441420 [GRCh38]
Chr8:57353979 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.733G>A (p.Glu245Lys) single nucleotide variant not specified [RCV004120441] Chr8:56441343 [GRCh38]
Chr8:57353902 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.508A>G (p.Ser170Gly) single nucleotide variant not specified [RCV004141445] Chr8:56441568 [GRCh38]
Chr8:57354127 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001135690.3(PENK):c.211C>G (p.Leu71Val) single nucleotide variant not specified [RCV004101025] Chr8:56441865 [GRCh38]
Chr8:57354424 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.52C>A (p.Leu18Ile) single nucleotide variant not specified [RCV004174381] Chr8:56445902 [GRCh38]
Chr8:57358461 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.544G>C (p.Val182Leu) single nucleotide variant not specified [RCV004098233] Chr8:56441532 [GRCh38]
Chr8:57354091 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.568A>G (p.Met190Val) single nucleotide variant not specified [RCV004213303] Chr8:56441508 [GRCh38]
Chr8:57354067 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.376G>A (p.Ala126Thr) single nucleotide variant not specified [RCV004201550] Chr8:56441700 [GRCh38]
Chr8:57354259 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.757G>A (p.Glu253Lys) single nucleotide variant not specified [RCV004120071] Chr8:56441319 [GRCh38]
Chr8:57353878 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.100A>C (p.Ser34Arg) single nucleotide variant not specified [RCV004165488] Chr8:56445854 [GRCh38]
Chr8:57358413 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.172T>C (p.Ser58Pro) single nucleotide variant not specified [RCV004077554] Chr8:56441904 [GRCh38]
Chr8:57354463 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.404G>A (p.Arg135Gln) single nucleotide variant not specified [RCV004267065] Chr8:56441672 [GRCh38]
Chr8:57354231 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.500G>A (p.Arg167Gln) single nucleotide variant not specified [RCV004284883] Chr8:56441576 [GRCh38]
Chr8:57354135 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.520G>A (p.Asp174Asn) single nucleotide variant not specified [RCV004274431] Chr8:56441556 [GRCh38]
Chr8:57354115 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.340A>G (p.Met114Val) single nucleotide variant not specified [RCV004261656] Chr8:56441736 [GRCh38]
Chr8:57354295 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.686G>T (p.Arg229Leu) single nucleotide variant not specified [RCV004272839] Chr8:56441390 [GRCh38]
Chr8:57353949 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.74A>C (p.Glu25Ala) single nucleotide variant not specified [RCV004364039] Chr8:56445880 [GRCh38]
Chr8:57358439 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8q12.1(chr8:57048524-58117681)x1 copy number loss not provided [RCV003483028] Chr8:57048524..58117681 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_001135690.3(PENK):c.201G>A (p.Glu67=) single nucleotide variant not provided [RCV003435502] Chr8:56441875 [GRCh38]
Chr8:57354434 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001135690.3(PENK):c.397G>A (p.Ala133Thr) single nucleotide variant not specified [RCV004505788] Chr8:56441679 [GRCh38]
Chr8:57354238 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.410G>C (p.Gly137Ala) single nucleotide variant not specified [RCV004505789] Chr8:56441666 [GRCh38]
Chr8:57354225 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.612A>C (p.Lys204Asn) single nucleotide variant not specified [RCV004505791] Chr8:56441464 [GRCh38]
Chr8:57354023 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.655C>G (p.Arg219Gly) single nucleotide variant not specified [RCV004505792] Chr8:56441421 [GRCh38]
Chr8:57353980 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.688T>G (p.Tyr230Asp) single nucleotide variant not specified [RCV004505793] Chr8:56441388 [GRCh38]
Chr8:57353947 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.551A>G (p.Lys184Arg) single nucleotide variant not specified [RCV004659833] Chr8:56441525 [GRCh38]
Chr8:57354084 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.402G>C (p.Lys134Asn) single nucleotide variant not specified [RCV004655700] Chr8:56441674 [GRCh38]
Chr8:57354233 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.68G>T (p.Arg23Leu) single nucleotide variant not specified [RCV004655701] Chr8:56445886 [GRCh38]
Chr8:57358445 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.575G>T (p.Gly192Val) single nucleotide variant not specified [RCV004655702] Chr8:56441501 [GRCh38]
Chr8:57354060 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001135690.3(PENK):c.563G>C (p.Gly188Ala) single nucleotide variant not specified [RCV004659832] Chr8:56441513 [GRCh38]
Chr8:57354072 [GRCh37]
Chr8:8q12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2022
Count of miRNA genes:950
Interacting mature miRNAs:1121
Transcripts:ENST00000314922, ENST00000451791, ENST00000517415, ENST00000518770, ENST00000518974, ENST00000520589, ENST00000521153, ENST00000523051, ENST00000523274
Prediction methods:Microtar, Miranda, Rnahybrid
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
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human

Markers in Region
D8S1816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,361,111 - 57,361,257UniSTSGRCh37
Build 36857,523,665 - 57,523,811RGDNCBI36
Celera853,351,906 - 53,352,052RGD
Cytogenetic Map8q23-q24UniSTS
HuRef852,828,202 - 52,828,348UniSTS
Marshfield Genetic Map871.0UniSTS
Marshfield Genetic Map871.0RGD
Genethon Genetic Map870.6UniSTS
deCODE Assembly Map868.63UniSTS
RH18068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,353,702 - 57,353,898UniSTSGRCh37
Build 36857,516,256 - 57,516,452RGDNCBI36
Celera853,344,499 - 53,344,694RGD
Cytogenetic Map8q23-q24UniSTS
HuRef852,820,797 - 52,820,992UniSTS
GeneMap99-GB4 RH Map8316.11UniSTS
NCBI RH Map8785.4UniSTS
GDB:174923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,353,163 - 57,353,241UniSTSGRCh37
Build 36857,515,717 - 57,515,795RGDNCBI36
Celera853,343,958 - 53,344,038RGD
Cytogenetic Map8q23-q24UniSTS
HuRef852,820,256 - 52,820,336UniSTS
GDB:190878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,353,163 - 57,353,241UniSTSGRCh37
Build 36857,515,717 - 57,515,795RGDNCBI36
Celera853,343,958 - 53,344,038RGD
Cytogenetic Map8q23-q24UniSTS
HuRef852,820,256 - 52,820,336UniSTS
SHGC-106945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,357,782 - 57,358,119UniSTSGRCh37
Build 36857,520,336 - 57,520,673RGDNCBI36
Celera853,348,578 - 53,348,915RGD
Cytogenetic Map8q23-q24UniSTS
HuRef852,824,874 - 52,825,211UniSTS
TNG Radiation Hybrid Map829076.0UniSTS
PENK_1026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,353,490 - 57,354,110UniSTSGRCh37
Build 36857,516,044 - 57,516,664RGDNCBI36
Celera853,344,287 - 53,344,906RGD
HuRef852,820,585 - 52,821,204UniSTS
RH46963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,353,611 - 57,353,778UniSTSGRCh37
Build 36857,516,165 - 57,516,332RGDNCBI36
Celera853,344,408 - 53,344,575RGD
Cytogenetic Map8q23-q24UniSTS
HuRef852,820,706 - 52,820,873UniSTS
GeneMap99-GB4 RH Map8299.95UniSTS
NCBI RH Map8785.4UniSTS
PENK  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,354,066 - 57,354,409UniSTSGRCh37
GRCh37857,353,881 - 57,354,074UniSTSGRCh37
Build 36857,516,620 - 57,516,963RGDNCBI36
Celera853,344,862 - 53,345,205RGD
Celera853,344,677 - 53,344,870UniSTS
HuRef852,820,975 - 52,821,168UniSTS
HuRef852,821,160 - 52,821,503UniSTS
PENK  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,354,066 - 57,354,409UniSTSGRCh37
GRCh37857,353,881 - 57,354,074UniSTSGRCh37
Build 36857,516,620 - 57,516,963RGDNCBI36
Celera853,344,862 - 53,345,205RGD
Celera853,344,677 - 53,344,870UniSTS
HuRef852,820,975 - 52,821,168UniSTS
HuRef852,821,160 - 52,821,503UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1203 2226 2759 2200 4805 1379 1845 2 341 1156 180 2180 5814 5630 30 3654 584 1558 1398 164

Sequence


Ensembl Acc Id: ENST00000314922   ⟹   ENSP00000324248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,440,954 - 56,446,030 (-)Ensembl
Ensembl Acc Id: ENST00000451791   ⟹   ENSP00000400894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,440,957 - 56,446,641 (-)Ensembl
Ensembl Acc Id: ENST00000517415   ⟹   ENSP00000430268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,436,674 - 56,445,944 (-)Ensembl
Ensembl Acc Id: ENST00000518770   ⟹   ENSP00000430592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,445,245 - 56,446,663 (-)Ensembl
Ensembl Acc Id: ENST00000518974   ⟹   ENSP00000428012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,441,759 - 56,446,572 (-)Ensembl
Ensembl Acc Id: ENST00000520589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,436,715 - 56,438,510 (-)Ensembl
Ensembl Acc Id: ENST00000521153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,446,006 - 56,446,671 (-)Ensembl
Ensembl Acc Id: ENST00000523051   ⟹   ENSP00000429326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,443,518 - 56,446,641 (-)Ensembl
Ensembl Acc Id: ENST00000523274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,441,392 - 56,445,648 (-)Ensembl
RefSeq Acc Id: NM_001135690   ⟹   NP_001129162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,440,957 - 56,446,641 (-)NCBI
GRCh37857,353,513 - 57,359,282 (-)ENTREZGENE
HuRef852,820,608 - 52,826,373 (-)ENTREZGENE
CHM1_1857,405,395 - 57,411,169 (-)NCBI
T2T-CHM13v2.0856,818,203 - 56,823,883 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001129162   ⟸   NM_001135690
- Peptide Label: preproprotein
- UniProtKB: Q6FHC6 (UniProtKB/Swiss-Prot),   B2RC23 (UniProtKB/Swiss-Prot),   Q6FHE6 (UniProtKB/Swiss-Prot),   P01210 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000430268   ⟸   ENST00000517415
Ensembl Acc Id: ENSP00000428012   ⟸   ENST00000518974
Ensembl Acc Id: ENSP00000430592   ⟸   ENST00000518770
Ensembl Acc Id: ENSP00000400894   ⟸   ENST00000451791
Ensembl Acc Id: ENSP00000429326   ⟸   ENST00000523051
Ensembl Acc Id: ENSP00000324248   ⟸   ENST00000314922

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01210-F1-model_v2 AlphaFold P01210 1-267 view protein structure

Promoters
RGD ID:7213349
Promoter ID:EPDNEW_H12420
Type:initiation region
Name:PENK_1
Description:proenkephalin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12421  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,446,641 - 56,446,701EPDNEW
RGD ID:6849958
Promoter ID:EP07107
Type:single initiation site
Name:HS_PENK
Description:Preproenkephalin, TAC1 or NKNA or TAC2 or NKA gene
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:adrenal medulla
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 36857,521,753 - 57,521,813EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8831 AgrOrtholog
COSMIC PENK COSMIC
Ensembl Genes ENSG00000181195 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000314922.3 UniProtKB/Swiss-Prot
  ENST00000451791 ENTREZGENE
  ENST00000451791.7 UniProtKB/Swiss-Prot
  ENST00000517415.1 UniProtKB/TrEMBL
  ENST00000518770.1 UniProtKB/TrEMBL
  ENST00000518974.5 UniProtKB/TrEMBL
  ENST00000523051.5 UniProtKB/TrEMBL
GTEx ENSG00000181195 GTEx
HGNC ID HGNC:8831 ENTREZGENE
Human Proteome Map PENK Human Proteome Map
InterPro Opioid_neupept UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proenkphlin_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5179 UniProtKB/Swiss-Prot
NCBI Gene 5179 ENTREZGENE
OMIM 131330 OMIM
PANTHER PTHR11438 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11438:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Opiods_neuropep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33176 PharmGKB
PRINTS OPIOIDPRCRSR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PENKAPRCRSR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE OPIOIDS_PRECURSOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RC23 ENTREZGENE
  E5RFR1_HUMAN UniProtKB/TrEMBL
  E5RIP6_HUMAN UniProtKB/TrEMBL
  E5RJ72_HUMAN UniProtKB/TrEMBL
  H0YBT5_HUMAN UniProtKB/TrEMBL
  P01210 ENTREZGENE, UniProtKB/Swiss-Prot
  Q3B7B1_HUMAN UniProtKB/TrEMBL
  Q6FHC6 ENTREZGENE
  Q6FHE6 ENTREZGENE
UniProt Secondary B2RC23 UniProtKB/Swiss-Prot
  Q6FHC6 UniProtKB/Swiss-Prot
  Q6FHE6 UniProtKB/Swiss-Prot