MDK (midkine) - Rat Genome Database

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Gene: MDK (midkine) Homo sapiens
Analyze
Symbol: MDK
Name: midkine
RGD ID: 69142
HGNC Page HGNC:6972
Description: Enables heparan sulfate binding activity and heparin binding activity. Involved in several processes, including negative regulation of apoptotic process; positive regulation of cell migration; and regulation of leukocyte cell-cell adhesion. Located in collagen-containing extracellular matrix. Implicated in brain ischemia. Biomarker of endometriosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amphiregulin-associated protein; ARAP; FLJ27379; midgestation and kidney protein; midkine (neurite growth-promoting factor 2); MK; NEGF2; neurite growth-promoting factor 2; neurite outgrowth-promoting factor 2; neurite outgrowth-promoting protein; retinoic acid inducible factor
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
GRCh381146,380,784 - 46,383,837 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,380,756 - 46,383,837 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,402,334 - 46,405,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,359,194 - 46,361,951 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,359,794 - 46,361,950NCBI
Celera1146,550,196 - 46,552,952 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,109,292 - 46,112,345 (+)NCBIHuRef
CHM1_11146,400,770 - 46,403,840 (+)NCBICHM1_1
T2T-CHM13v2.01146,536,860 - 46,539,912 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bicalutamide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chondroitin sulfate  (EXP)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (ISO)
dermatan sulfate  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dieldrin  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
enzalutamide  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
furosemide  (ISO)
gefitinib  (ISO)
genistein  (EXP)
glucose  (ISO)
glycidol  (ISO)
gossypol  (EXP)
hexane  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
mitomycin C  (EXP)
monosodium L-glutamate  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenytoin  (EXP)
PhIP  (ISO)
picoxystrobin  (EXP)
piroxicam  (EXP)
pyrimidifen  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
thifluzamide  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
zearalenone  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (ISS)
behavioral fear response  (IEA)
cell differentiation  (IEA,NAS)
cell migration  (ISO)
cerebellar granular layer development  (IEA)
cerebral cortex development  (IEA)
cytoskeleton organization  (IEA,ISS)
defecation  (IEA)
dentate gyrus development  (IEA)
estrous cycle  (IEA,ISS)
glial cell projection elongation  (IEA,ISS)
hippocampus development  (IEA)
intracellular signal transduction  (IDA)
leukocyte chemotaxis involved in inflammatory response  (IEA,IMP,ISS)
negative regulation of canonical Wnt signaling pathway  (IEA,ISS)
negative regulation of cardiac muscle cell apoptotic process  (IEA,IMP,ISS)
negative regulation of cell adhesion  (IEA,ISS)
negative regulation of epithelial cell apoptotic process  (IEA,ISS)
negative regulation of inflammatory response to wounding  (IEA,ISS)
negative regulation of neuron apoptotic process  (IDA,IEA)
negative regulation of ossification  (IEA,ISS)
negative regulation of regulatory T cell differentiation  (IMP)
nervous system development  (NAS)
oogenesis  (IEA,ISS)
positive regulation of artery morphogenesis  (IEA,ISS)
positive regulation of blood vessel branching  (IMP)
positive regulation of cartilage development  (IEA,ISS)
positive regulation of cell adhesion  (IDA)
positive regulation of cell division  (IEA)
positive regulation of cell migration  (IDA)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of epithelial to mesenchymal transition  (IMP)
positive regulation of hepatocyte proliferation  (IEA,ISS)
positive regulation of inflammatory response  (IMP)
positive regulation of inflammatory response to wounding  (IEA,ISS)
positive regulation of interleukin-12 production  (IMP)
positive regulation of keratinocyte proliferation  (IDA)
positive regulation of leukocyte adhesion to vascular endothelial cell  (IEA,ISS)
positive regulation of leukocyte cell-cell adhesion  (IMP)
positive regulation of leukocyte chemotaxis  (IEA,ISS)
positive regulation of macrophage chemotaxis  (IEA,IMP,ISS)
positive regulation of neural precursor cell proliferation  (IEA,ISS)
positive regulation of neuron migration  (IMP)
positive regulation of neuron projection development  (IDA,IMP)
positive regulation of neutrophil chemotaxis  (IEA,ISS)
positive regulation of neutrophil extravasation  (IEA,ISS)
positive regulation of oligodendrocyte differentiation  (IDA)
positive regulation of smooth muscle cell chemotaxis  (IMP)
positive regulation of substrate adhesion-dependent cell spreading  (IEA,ISS)
positive regulation of T cell differentiation  (IEA,ISS)
positive regulation of vascular endothelial cell proliferation  (IEA,ISS)
regulation of behavior  (IEA)
regulation of bone remodeling  (IEA,ISS)
regulation of chondrocyte differentiation  (IEA,ISS)
response to auditory stimulus  (IEA,ISS)
response to glucocorticoid  (ISO)
response to hormone  (ISO)
response to wounding  (IEA,ISS)
response to xenobiotic stimulus  (ISO)
short-term memory  (IEA)
signal transduction  (IEA,NAS)
T cell activation involved in immune response  (IEA,ISS)
tissue regeneration  (IEA,ISS)

Cellular Component

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Midkine and retinoic acid reduce cerebral infarction induced by middle cerebral artery ligation in rats. Harvey BK, etal., Neurosci Lett. 2004 Oct 14;369(2):138-41.
3. Possible implication of midkine in the development of endometriosis. Hirota Y, etal., Hum Reprod. 2005 Apr;20(4):1084-9. Epub 2005 Feb 25.
4. Neointima formation in a restenosis model is suppressed in midkine-deficient mice. Horiba M, etal., J Clin Invest 2000 Feb;105(4):489-95.
5. Basic FGF and FGF receptor 1 are expressed in microglia during experimental autoimmune encephalomyelitis: temporally distinct expression of midkine and pleiotrophin. Liu X, etal., Glia. 1998 Dec;24(4):390-7.
6. Midkine, a heparin-binding growth factor, is fundamentally involved in the pathogenesis of rheumatoid arthritis. Maruyama K, etal., Arthritis Rheum. 2004 May;50(5):1420-9.
7. Myocardial infarction induces expression of midkine, a heparin-binding growth factor with reparative activity. Obama H, etal., Anticancer Res. 1998 Jan-Feb;18(1A):145-52.
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. Haptotactic migration induced by midkine. Involvement of protein-tyrosine phosphatase zeta. Mitogen-activated protein kinase, and phosphatidylinositol 3-kinase. Qi M, etal., J Biol Chem. 2001 May 11;276(19):15868-75.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Midkine antisense oligodeoxyribonucleotide inhibits renal damage induced by ischemic reperfusion. Sato W, etal., Kidney Int. 2005 Apr;67(4):1330-9.
13. Alteration of midkine expression in the ischemic brain of humans. Wada M, etal., J Neurol Sci. 2002 Aug 15;200(1-2):67-73.
Additional References at PubMed
PMID:1639750   PMID:1701366   PMID:1768439   PMID:1883381   PMID:2025291   PMID:7835084   PMID:8241100   PMID:8406506   PMID:8471163   PMID:8621465   PMID:8694802   PMID:9089390  
PMID:9384573   PMID:9452495   PMID:10212223   PMID:10772929   PMID:11048798   PMID:11925507   PMID:12077357   PMID:12084985   PMID:12122009   PMID:12147681   PMID:12175547   PMID:12477932  
PMID:12573468   PMID:12579281   PMID:12841873   PMID:14517843   PMID:14970216   PMID:15050737   PMID:15138367   PMID:15146197   PMID:15197188   PMID:15201962   PMID:15340161   PMID:15355893  
PMID:15466886   PMID:15489334   PMID:15781266   PMID:15897897   PMID:16169070   PMID:16341674   PMID:16713569   PMID:16895951   PMID:17066487   PMID:17171794   PMID:17267033   PMID:17368428  
PMID:17379400   PMID:17451201   PMID:17493173   PMID:17607302   PMID:17845207   PMID:17931612   PMID:17971413   PMID:18176965   PMID:18195496   PMID:18329695   PMID:18422745   PMID:18469519  
PMID:18476626   PMID:18657127   PMID:18682710   PMID:18698021   PMID:18712601   PMID:18851943   PMID:18956201   PMID:18985819   PMID:19016768   PMID:19060126   PMID:19112919   PMID:19250738  
PMID:19409372   PMID:19538527   PMID:19698107   PMID:19728850   PMID:20030927   PMID:20030935   PMID:20308059   PMID:20350697   PMID:20431264   PMID:20442752   PMID:20447063   PMID:20511550  
PMID:20525245   PMID:20544404   PMID:20589434   PMID:20694011   PMID:20811700   PMID:21094842   PMID:21208277   PMID:21212259   PMID:21233844   PMID:21787488   PMID:21826666   PMID:21873635  
PMID:21900206   PMID:21917682   PMID:21989914   PMID:22051879   PMID:22099874   PMID:22249249   PMID:22323540   PMID:22415659   PMID:22417224   PMID:22562257   PMID:22669742   PMID:22672821  
PMID:22707563   PMID:22871361   PMID:23129424   PMID:23212314   PMID:23224432   PMID:23243020   PMID:23391998   PMID:23553629   PMID:23602568   PMID:23719264   PMID:23815177   PMID:23899719  
PMID:24043271   PMID:24164595   PMID:24272599   PMID:24458438   PMID:24500281   PMID:24516630   PMID:24567526   PMID:24659893   PMID:25001988   PMID:25017879   PMID:25056169   PMID:25283079  
PMID:25355294   PMID:25428991   PMID:25655295   PMID:25787827   PMID:25817231   PMID:26159850   PMID:26297257   PMID:26352402   PMID:26566633   PMID:26642712   PMID:26656665   PMID:26798989  
PMID:27089523   PMID:27445335   PMID:27470002   PMID:27497193   PMID:27503909   PMID:27530994   PMID:27692729   PMID:27813495   PMID:27903979   PMID:28240744   PMID:28327460   PMID:28514442  
PMID:28559305   PMID:28656262   PMID:28686647   PMID:29113102   PMID:29164967   PMID:29344648   PMID:29355490   PMID:29383694   PMID:29486735   PMID:29509190   PMID:29797475   PMID:29936723  
PMID:29984722   PMID:30572598   PMID:30647120   PMID:31343991   PMID:31478661   PMID:31552013   PMID:31600291   PMID:31639491   PMID:31648804   PMID:31801970   PMID:31984657   PMID:32153561  
PMID:32296183   PMID:32308772   PMID:32358581   PMID:32513696   PMID:32587339   PMID:32707033   PMID:32879333   PMID:33077955   PMID:33565751   PMID:33599989   PMID:33625758   PMID:33961781  
PMID:34578187   PMID:34689799   PMID:34739899   PMID:34759262   PMID:34916167   PMID:35013218   PMID:35028860   PMID:35236197   PMID:35271311   PMID:35446349   PMID:35503453   PMID:35588343  
PMID:35944360   PMID:36028490   PMID:36244648   PMID:36273042   PMID:36373674   PMID:36592390   PMID:36721112   PMID:37269057   PMID:37739342   PMID:37850119   PMID:38203625   PMID:38247828  
PMID:38496616  


Genomics

Comparative Map Data
MDK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,380,784 - 46,383,837 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,380,756 - 46,383,837 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,402,334 - 46,405,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,359,194 - 46,361,951 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,359,794 - 46,361,950NCBI
Celera1146,550,196 - 46,552,952 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,109,292 - 46,112,345 (+)NCBIHuRef
CHM1_11146,400,770 - 46,403,840 (+)NCBICHM1_1
T2T-CHM13v2.01146,536,860 - 46,539,912 (+)NCBIT2T-CHM13v2.0
Mdk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39291,760,149 - 91,762,348 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl291,760,150 - 91,762,642 (-)EnsemblGRCm39 Ensembl
GRCm38291,929,805 - 91,932,297 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,929,805 - 91,932,297 (-)EnsemblGRCm38mm10GRCm38
MGSCv37291,769,978 - 91,772,439 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36291,730,660 - 91,733,121 (-)NCBIMGSCv36mm8
Celera293,320,223 - 93,322,680 (-)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.63NCBI
Mdk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8398,356,789 - 98,358,960 (-)NCBIGRCr8
mRatBN7.2377,901,134 - 77,903,997 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl377,901,158 - 77,903,130 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx381,376,607 - 81,377,964 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0389,975,637 - 89,976,994 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0387,826,859 - 87,828,216 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0380,841,003 - 80,843,895 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl380,841,005 - 80,842,916 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,539,671 - 87,542,415 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,309,988 - 76,311,345 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1376,206,095 - 76,208,044 (-)NCBI
Celera377,104,074 - 77,105,431 (-)NCBICelera
Cytogenetic Map3q24NCBI
Mdk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554221,655,358 - 1,657,044 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554221,655,351 - 1,657,026 (-)NCBIChiLan1.0ChiLan1.0
MDK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2948,593,687 - 48,596,920 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,600,717 - 48,603,778 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01146,339,365 - 46,342,388 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11146,890,151 - 46,893,318 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1146,891,540 - 46,893,254 (+)Ensemblpanpan1.1panPan2
MDK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1841,813,442 - 41,816,331 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01843,741,013 - 43,743,897 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11843,226,002 - 43,228,884 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01842,777,871 - 42,780,760 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,511,102 - 43,513,993 (-)NCBIUU_Cfam_GSD_1.0
Mdk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,576,217 - 20,578,924 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365622,687,825 - 2,689,484 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365622,687,825 - 2,690,292 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MDK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl216,130,788 - 16,133,510 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1216,130,787 - 16,133,791 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,476,834 - 17,479,834 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MDK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1118,945,355 - 18,948,394 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl118,946,378 - 18,947,134 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038116,230,790 - 116,233,817 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mdk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247672,171,096 - 2,173,512 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247672,171,096 - 2,173,436 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MDK
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
NM_000741.3(CHRM4):c.319C>T (p.Leu107=) single nucleotide variant Malignant melanoma [RCV000069369] Chr11:46386239 [GRCh38]
Chr11:46407789 [GRCh37]
Chr11:46364365 [NCBI36]
Chr11:11p11.2
not provided
NM_000741.3(CHRM4):c.318C>T (p.Asp106=) single nucleotide variant Malignant melanoma [RCV000069370] Chr11:46386240 [GRCh38]
Chr11:46407790 [GRCh37]
Chr11:46364366 [NCBI36]
Chr11:11p11.2
not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12
pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12
likely pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 copy number loss See cases [RCV000446153] Chr11:45873733..46409298 [GRCh37]
Chr11:11p11.2
likely pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002391.6(MDK):c.410A>G (p.Lys137Arg) single nucleotide variant Inborn genetic diseases [RCV003291633] Chr11:46383472 [GRCh38]
Chr11:46405022 [GRCh37]
Chr11:11p11.2
uncertain significance
Single allele duplication Global developmental delay [RCV000677110] Chr11:46315434..46629277 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3 copy number gain not provided [RCV000846414] Chr11:46302171..46783079 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.10:g.(?_46366257)_(46744577_?)dup duplication not provided [RCV001032651] Chr11:46387807..46766127 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1 copy number loss not provided [RCV001259091] Chr11:45995260..46536343 [GRCh37]
Chr11:11p11.2
likely pathogenic
GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3 copy number gain not provided [RCV001259093] Chr11:46123974..46442526 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p11.2(chr11:46248477-46748132) copy number loss not specified [RCV002052926] Chr11:46248477..46748132 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_46318032)_(46761066_?)dup duplication not provided [RCV001997118] Chr11:46318032..46761066 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2
pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2
pathogenic
NM_002391.6(MDK):c.97C>G (p.Pro33Ala) single nucleotide variant Inborn genetic diseases [RCV002737812] Chr11:46382314 [GRCh38]
Chr11:46403864 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002391.6(MDK):c.245C>T (p.Ala82Val) single nucleotide variant Inborn genetic diseases [RCV002845941] Chr11:46382587 [GRCh38]
Chr11:46404137 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002391.6(MDK):c.214G>T (p.Val72Leu) single nucleotide variant Inborn genetic diseases [RCV003362584] Chr11:46382431 [GRCh38]
Chr11:46403981 [GRCh37]
Chr11:11p11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4371
Count of miRNA genes:777
Interacting mature miRNAs:964
Transcripts:ENST00000359803, ENST00000395565, ENST00000395566, ENST00000395569, ENST00000405308, ENST00000407067, ENST00000441869, ENST00000481047, ENST00000489525, ENST00000490240, ENST00000533283, ENST00000533952
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH12588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,401,918 - 46,402,062UniSTSGRCh37
Build 361146,358,494 - 46,358,638RGDNCBI36
Celera1146,549,496 - 46,549,640RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,108,876 - 46,109,020UniSTS
GeneMap99-GB4 RH Map11163.76UniSTS
DGKZ_1591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,401,449 - 46,402,125UniSTSGRCh37
Build 361146,358,025 - 46,358,701RGDNCBI36
Celera1146,549,027 - 46,549,703RGD
HuRef1146,108,407 - 46,109,083UniSTS
D11S4595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,405,150 - 46,405,366UniSTSGRCh37
Build 361146,361,726 - 46,361,942RGDNCBI36
Celera1146,552,727 - 46,552,943RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,112,108 - 46,112,324UniSTS
MDK  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,404,356 - 46,404,839UniSTSGRCh37
Build 361146,360,932 - 46,361,415RGDNCBI36
Celera1146,551,933 - 46,552,416RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,111,314 - 46,111,797UniSTS
GeneMap99-GB4 RH Map11163.76UniSTS
SGC33101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,405,387 - 46,405,512UniSTSGRCh37
Build 361146,361,963 - 46,362,088RGDNCBI36
Celera1146,552,964 - 46,553,089RGD
Cytogenetic Map11p11.2UniSTS
GeneMap99-GB4 RH Map11165.96UniSTS
Whitehead-RH Map11149.7UniSTS
NCBI RH Map11283.5UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3 1 2 2 2 2 1 4 6 102 12
Medium 1882 854 1257 321 589 167 2444 563 2027 265 1299 1365 167 937 1334 3
Low 553 2024 457 292 1229 288 1899 1622 1683 147 57 234 6 1 267 1443 1 1
Below cutoff 1 110 10 9 130 8 11 11 13 1 2 2 2 11 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001012333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001012334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI494596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF684205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI915189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM016739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM761575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM887813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX346163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN266354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN266369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN266376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA464939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000359803   ⟹   ENSP00000352852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,068 - 46,383,825 (+)Ensembl
RefSeq Acc Id: ENST00000395565   ⟹   ENSP00000378932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,711 - 46,383,837 (+)Ensembl
RefSeq Acc Id: ENST00000395566   ⟹   ENSP00000378933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,669 - 46,383,801 (+)Ensembl
RefSeq Acc Id: ENST00000395569   ⟹   ENSP00000378936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,669 - 46,383,825 (+)Ensembl
RefSeq Acc Id: ENST00000405308   ⟹   ENSP00000385451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,380,756 - 46,383,799 (+)Ensembl
RefSeq Acc Id: ENST00000407067   ⟹   ENSP00000384034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,753 - 46,383,783 (+)Ensembl
RefSeq Acc Id: ENST00000441869   ⟹   ENSP00000416241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,380,937 - 46,382,364 (+)Ensembl
RefSeq Acc Id: ENST00000481047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,711 - 46,382,770 (+)Ensembl
RefSeq Acc Id: ENST00000489525   ⟹   ENSP00000433240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,737 - 46,383,806 (+)Ensembl
RefSeq Acc Id: ENST00000490240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,061 - 46,382,821 (+)Ensembl
RefSeq Acc Id: ENST00000533283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,693 - 46,383,570 (+)Ensembl
RefSeq Acc Id: ENST00000533952   ⟹   ENSP00000432649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,207 - 46,382,736 (+)Ensembl
RefSeq Acc Id: ENST00000617138   ⟹   ENSP00000480875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,381,655 - 46,383,837 (+)Ensembl
RefSeq Acc Id: NM_001012333   ⟹   NP_001012333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,669 - 46,383,801 (+)NCBI
GRCh371146,402,334 - 46,405,387 (+)NCBI
Build 361146,359,879 - 46,361,951 (+)NCBI Archive
HuRef1146,109,292 - 46,112,345 (+)NCBI
CHM1_11146,401,697 - 46,403,840 (+)NCBI
T2T-CHM13v2.01146,537,745 - 46,539,876 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001012334   ⟹   NP_001012334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,068 - 46,383,837 (+)NCBI
GRCh371146,402,334 - 46,405,387 (+)NCBI
Build 361146,359,194 - 46,361,951 (+)NCBI Archive
HuRef1146,109,292 - 46,112,345 (+)NCBI
CHM1_11146,401,054 - 46,403,840 (+)NCBI
T2T-CHM13v2.01146,537,144 - 46,539,912 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270550   ⟹   NP_001257479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,380,784 - 46,383,837 (+)NCBI
HuRef1146,109,292 - 46,112,345 (+)NCBI
CHM1_11146,400,770 - 46,403,840 (+)NCBI
T2T-CHM13v2.01146,536,860 - 46,539,912 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270551   ⟹   NP_001257480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,669 - 46,383,801 (+)NCBI
GRCh371146,402,334 - 46,405,387 (+)NCBI
HuRef1146,109,292 - 46,112,345 (+)NCBI
CHM1_11146,401,697 - 46,403,840 (+)NCBI
T2T-CHM13v2.01146,537,745 - 46,539,876 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270552   ⟹   NP_001257481
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,669 - 46,383,801 (+)NCBI
HuRef1146,109,292 - 46,112,345 (+)NCBI
CHM1_11146,401,641 - 46,403,840 (+)NCBI
T2T-CHM13v2.01146,537,745 - 46,539,876 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002391   ⟹   NP_002382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,669 - 46,383,801 (+)NCBI
GRCh371146,402,334 - 46,405,387 (+)NCBI
Build 361146,359,795 - 46,361,951 (+)NCBI Archive
HuRef1146,109,292 - 46,112,345 (+)NCBI
CHM1_11146,401,641 - 46,403,840 (+)NCBI
T2T-CHM13v2.01146,537,745 - 46,539,876 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073039
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,669 - 46,383,801 (+)NCBI
GRCh371146,402,334 - 46,405,387 (+)NCBI
HuRef1146,109,292 - 46,112,345 (+)NCBI
CHM1_11146,401,641 - 46,403,840 (+)NCBI
T2T-CHM13v2.01146,537,745 - 46,539,876 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001012334   ⟸   NM_001012334
- Peptide Label: isoform a precursor
- UniProtKB: Q2LEK4 (UniProtKB/Swiss-Prot),   Q9UCC7 (UniProtKB/Swiss-Prot),   P21741 (UniProtKB/Swiss-Prot),   E9PPJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002382   ⟸   NM_002391
- Peptide Label: isoform a precursor
- UniProtKB: Q2LEK4 (UniProtKB/Swiss-Prot),   Q9UCC7 (UniProtKB/Swiss-Prot),   P21741 (UniProtKB/Swiss-Prot),   E9PPJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001012333   ⟸   NM_001012333
- Peptide Label: isoform a precursor
- UniProtKB: Q2LEK4 (UniProtKB/Swiss-Prot),   Q9UCC7 (UniProtKB/Swiss-Prot),   P21741 (UniProtKB/Swiss-Prot),   E9PPJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257479   ⟸   NM_001270550
- Peptide Label: isoform a precursor
- UniProtKB: Q2LEK4 (UniProtKB/Swiss-Prot),   Q9UCC7 (UniProtKB/Swiss-Prot),   P21741 (UniProtKB/Swiss-Prot),   E9PPJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257481   ⟸   NM_001270552
- Peptide Label: isoform b precursor
- UniProtKB: P21741 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257480   ⟸   NM_001270551
- Peptide Label: isoform a precursor
- UniProtKB: Q2LEK4 (UniProtKB/Swiss-Prot),   Q9UCC7 (UniProtKB/Swiss-Prot),   P21741 (UniProtKB/Swiss-Prot),   E9PPJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000352852   ⟸   ENST00000359803
RefSeq Acc Id: ENSP00000432649   ⟸   ENST00000533952
RefSeq Acc Id: ENSP00000416241   ⟸   ENST00000441869
RefSeq Acc Id: ENSP00000385451   ⟸   ENST00000405308
RefSeq Acc Id: ENSP00000480875   ⟸   ENST00000617138
RefSeq Acc Id: ENSP00000384034   ⟸   ENST00000407067
RefSeq Acc Id: ENSP00000378936   ⟸   ENST00000395569
RefSeq Acc Id: ENSP00000378933   ⟸   ENST00000395566
RefSeq Acc Id: ENSP00000378932   ⟸   ENST00000395565
RefSeq Acc Id: ENSP00000433240   ⟸   ENST00000489525
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21741-F1-model_v2 AlphaFold P21741 1-143 view protein structure

Promoters
RGD ID:6788761
Promoter ID:HG_KWN:12761
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395569,   ENST00000405098,   ENST00000405308,   ENST00000405994,   NM_001012333,   NM_001012334,   NM_002391,   OTTHUMT00000317547,   OTTHUMT00000317549,   UC001NCR.1,   UC001NCS.1,   UC009YKZ.1,   UC009YLB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,358,891 - 46,359,767 (+)MPROMDB
RGD ID:6853470
Promoter ID:EP74560
Type:initiation region
Name:HS_MDK
Description:Midkine (neurite growth-promoting factor 2).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,359,809 - 46,359,869EPD
RGD ID:7220177
Promoter ID:EPDNEW_H15834
Type:initiation region
Name:MDK_4
Description:midkine (neurite growth-promoting factor 2)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15835  EPDNEW_H15836  EPDNEW_H15837  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,380,787 - 46,380,847EPDNEW
RGD ID:7220179
Promoter ID:EPDNEW_H15835
Type:initiation region
Name:MDK_3
Description:midkine (neurite growth-promoting factor 2)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15834  EPDNEW_H15836  EPDNEW_H15837  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,052 - 46,381,112EPDNEW
RGD ID:7220181
Promoter ID:EPDNEW_H15836
Type:initiation region
Name:MDK_1
Description:midkine (neurite growth-promoting factor 2)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15834  EPDNEW_H15835  EPDNEW_H15837  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,381,669 - 46,381,729EPDNEW
RGD ID:7220183
Promoter ID:EPDNEW_H15837
Type:initiation region
Name:MDK_2
Description:midkine (neurite growth-promoting factor 2)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15834  EPDNEW_H15835  EPDNEW_H15836  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,382,036 - 46,382,096EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6972 AgrOrtholog
COSMIC MDK COSMIC
Ensembl Genes ENSG00000110492 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359803 ENTREZGENE
  ENST00000359803.7 UniProtKB/Swiss-Prot
  ENST00000395565 ENTREZGENE
  ENST00000395565.5 UniProtKB/Swiss-Prot
  ENST00000395566 ENTREZGENE
  ENST00000395566.9 UniProtKB/Swiss-Prot
  ENST00000395569 ENTREZGENE
  ENST00000395569.8 UniProtKB/Swiss-Prot
  ENST00000405308 ENTREZGENE
  ENST00000405308.6 UniProtKB/Swiss-Prot
  ENST00000407067 ENTREZGENE
  ENST00000407067.1 UniProtKB/Swiss-Prot
  ENST00000441869.5 UniProtKB/TrEMBL
  ENST00000489525.5 UniProtKB/TrEMBL
  ENST00000533952.5 UniProtKB/TrEMBL
Gene3D-CATH 2.20.60.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110492 GTEx
HGNC ID HGNC:6972 ENTREZGENE
Human Proteome Map MDK Human Proteome Map
InterPro Midkine_heparin-bd_GF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN/MK_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN/MK_C_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN/MK_diS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN/MK_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN/MK_N_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN_MK_heparin-bd_GF_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4192 UniProtKB/Swiss-Prot
NCBI Gene 4192 ENTREZGENE
OMIM 162096 OMIM
PANTHER MIDKINE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13850 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PTN_MK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN_MK_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30717 PharmGKB
PRINTS PTNMIDKINE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PTN_MK_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTN_MK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57288 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JHA4_HUMAN UniProtKB/TrEMBL
  E9PLM6_HUMAN UniProtKB/TrEMBL
  E9PPJ5 ENTREZGENE, UniProtKB/TrEMBL
  MK_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2LEK2_HUMAN UniProtKB/TrEMBL
  Q2LEK3_HUMAN UniProtKB/TrEMBL
  Q2LEK4 ENTREZGENE
  Q9UCC7 ENTREZGENE
UniProt Secondary Q2LEK4 UniProtKB/Swiss-Prot
  Q9UCC7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 MDK  midkine  MDK  midkine (neurite growth-promoting factor 2)  Symbol and/or name change 5135510 APPROVED