ENPP2 (ectonucleotide pyrophosphatase/phosphodiesterase 2) - Rat Genome Database

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Gene: ENPP2 (ectonucleotide pyrophosphatase/phosphodiesterase 2) Homo sapiens
Analyze
Symbol: ENPP2
Name: ectonucleotide pyrophosphatase/phosphodiesterase 2
RGD ID: 734409
HGNC Page HGNC:3357
Description: Enables calcium ion binding activity; lysophospholipase activity; and zinc ion binding activity. Involved in several processes, including lipid catabolic process; positive regulation of epithelial cell migration; and positive regulation of lamellipodium morphogenesis. Located in extracellular space. Biomarker of proliferative diabetic retinopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATX; ATX-X; autotaxin; autotaxin-t; E-NPP 2; ectonucleotide pyrophosphatase/phosphodiesterase family member 2; extracellular lysophospholipase D; FLJ26803; LysoPLD; NPP2; PD-IALPHA; PDNP2; phosphodiesterase I/nucleotide pyrophosphatase 2; plasma lysophospholipase D
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
GRCh388119,557,086 - 119,673,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8119,557,086 - 119,673,453 (-)EnsemblGRCh38hg38GRCh38
GRCh378120,569,326 - 120,685,630 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,638,500 - 120,720,287 (-)NCBINCBI36Build 36hg18NCBI36
Build 348120,638,506 - 120,720,251NCBI
Celera8116,758,340 - 116,840,155 (-)NCBICelera
Cytogenetic Map8q24.12NCBI
HuRef8115,890,120 - 115,971,909 (-)NCBIHuRef
CHM1_18120,609,842 - 120,691,629 (-)NCBICHM1_1
T2T-CHM13v2.08120,685,947 - 120,802,252 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2,3-Trichloropropane  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
1-octadec-9-enoylglycero-3-phosphate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (EXP)
3'-O-(4-Benzoyl)benzoyl ATP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
AACOCF3  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
alpha-naphthoflavone  (EXP)
amitrole  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
ATP  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
benzyl acetate  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butyric acid  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
capsaicin  (ISO)
carbon nanotube  (EXP,ISO)
carvacrol  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorendic acid  (EXP)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
Cinnamyl anthranilate  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
crocidolite asbestos  (ISO)
cumene  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
diiodine  (ISO)
dimethyl sulfoxide  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
diuron  (ISO)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
fenofibrate  (EXP)
flurbiprofen  (ISO)
flusilazole  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
GW 4064  (ISO)
indometacin  (EXP)
ketamine  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
lysophosphatidylcholine  (ISO)
medroxyprogesterone acetate  (EXP)
mercaptopurine  (ISO)
methapyrilene  (EXP,ISO)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
Monobutylphthalate  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
o-anisidine  (EXP)
ozone  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
Phenelzine  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (ISO)
protein kinase inhibitor  (EXP)
purine-6-thiol  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (ISO)
riddelliine  (ISO)
roxarsone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sodium aurothiomalate  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
tamoxifen  (EXP,ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (EXP)
toluene 2,6-diisocyanate  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
undecane  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
xestospongin C  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IEA)
extracellular space  (IBA,IDA,IEA,ISO,ISS)
membrane  (IEA)
plasma membrane  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Expression of lysophosphatidic acid, autotaxin and acylglycerol kinase as biomarkers in diabetic retinopathy. Abu El-Asrar AM, etal., Acta Diabetol. 2013 Jun;50(3):363-71. doi: 10.1007/s00592-012-0422-1. Epub 2012 Aug 4.
2. Effect of histidine on autotaxin activity in experimentally induced liver fibrosis. El-Batch M, etal., J Biochem Mol Toxicol. 2011 May-Jun;25(3):143-50. doi: 10.1002/jbt.20370. Epub 2010 Oct 18.
3. A novel autotaxin inhibitor reduces lysophosphatidic acid levels in plasma and the site of inflammation. Gierse J, etal., J Pharmacol Exp Ther. 2010 Jul;334(1):310-7. doi: 10.1124/jpet.110.165845. Epub 2010 Apr 14.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. The potential protective role of lysophospholipid mediators in nephrotoxicity induced by chronically exposed cadmium. Tsutsumi T, etal., Food Chem Toxicol. 2014 Mar;65:52-62. doi: 10.1016/j.fct.2013.12.019. Epub 2013 Dec 20.
7. Plasma lysophosphatidic acid level and serum autotaxin activity are increased in liver injury in rats in relation to its severity. Watanabe N, etal., Life Sci. 2007 Sep 1;81(12):1009-15. Epub 2007 Aug 19.
Additional References at PubMed
PMID:1733949   PMID:7496154   PMID:7982964   PMID:8579579   PMID:8586446   PMID:8798697   PMID:8889548   PMID:8995394   PMID:10737800   PMID:11559573   PMID:12107410   PMID:12119361  
PMID:12176993   PMID:12354767   PMID:12477932   PMID:12482591   PMID:12498389   PMID:12633853   PMID:12727817   PMID:14500380   PMID:15027116   PMID:15280042   PMID:15489334   PMID:15700135  
PMID:15769751   PMID:15897878   PMID:15933052   PMID:15985467   PMID:16117781   PMID:16344560   PMID:16356477   PMID:16436050   PMID:16529861   PMID:16627485   PMID:16782887   PMID:16837466  
PMID:17013094   PMID:17577119   PMID:17804602   PMID:17902023   PMID:18054784   PMID:18175805   PMID:18249559   PMID:18327261   PMID:18337445   PMID:18497954   PMID:19027716   PMID:19204739  
PMID:19204929   PMID:19212832   PMID:19222837   PMID:19297419   PMID:19477432   PMID:19506801   PMID:19521548   PMID:19522250   PMID:19549252   PMID:19614625   PMID:20197381   PMID:20231358  
PMID:20356387   PMID:20379614   PMID:20495010   PMID:20623382   PMID:20888793   PMID:21240271   PMID:21246658   PMID:21393252   PMID:21419756   PMID:21439952   PMID:21505238   PMID:21696367  
PMID:21719699   PMID:21765444   PMID:21777571   PMID:21873635   PMID:21971049   PMID:21994952   PMID:21998595   PMID:22002750   PMID:22140473   PMID:22155714   PMID:22314276   PMID:22474126  
PMID:22644624   PMID:22700442   PMID:22744859   PMID:22820036   PMID:22922883   PMID:22952646   PMID:22975311   PMID:23150666   PMID:23258351   PMID:23377000   PMID:23478591   PMID:23558934  
PMID:23639740   PMID:23866971   PMID:24050723   PMID:24122794   PMID:24162774   PMID:24443508   PMID:24548887   PMID:24560789   PMID:24582488   PMID:24641902   PMID:24642343   PMID:24852265  
PMID:24935929   PMID:24969110   PMID:24984830   PMID:25195735   PMID:25277122   PMID:25277244   PMID:25450205   PMID:25536867   PMID:25896349   PMID:25977291   PMID:26037280   PMID:26071407  
PMID:26072274   PMID:26111716   PMID:26224810   PMID:26313906   PMID:26371182   PMID:26391552   PMID:26628447   PMID:26727116   PMID:26775031   PMID:26800320   PMID:27019050   PMID:27268273  
PMID:27390295   PMID:27506882   PMID:27540113   PMID:27583415   PMID:27659560   PMID:27757783   PMID:27784781   PMID:27911319   PMID:28052132   PMID:28298439   PMID:28347252   PMID:28425454  
PMID:28539367   PMID:28598712   PMID:28968864   PMID:29058512   PMID:29065699   PMID:29305605   PMID:29328374   PMID:29414802   PMID:29500864   PMID:29568204   PMID:29724718   PMID:29802350  
PMID:29859298   PMID:30021884   PMID:30032361   PMID:30054520   PMID:30243984   PMID:30374843   PMID:30396320   PMID:30450805   PMID:30456868   PMID:30514094   PMID:30567518   PMID:30984544  
PMID:31035435   PMID:31186435   PMID:31247591   PMID:31251802   PMID:31471142   PMID:31648019   PMID:31743419   PMID:32286414   PMID:32396387   PMID:32436125   PMID:32977539   PMID:33017574  
PMID:33277571   PMID:33367557   PMID:33568105   PMID:33636640   PMID:34140021   PMID:34331220   PMID:34343482   PMID:34389475   PMID:34502491   PMID:34576169   PMID:34769391   PMID:34788605  
PMID:35409077   PMID:35914814   PMID:36012446   PMID:36139071   PMID:36374860   PMID:37108194   PMID:37176032   PMID:37358838   PMID:37392838   PMID:37770812   PMID:38095984   PMID:38690851  
PMID:39134206  


Genomics

Comparative Map Data
ENPP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388119,557,086 - 119,673,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8119,557,086 - 119,673,453 (-)EnsemblGRCh38hg38GRCh38
GRCh378120,569,326 - 120,685,630 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,638,500 - 120,720,287 (-)NCBINCBI36Build 36hg18NCBI36
Build 348120,638,506 - 120,720,251NCBI
Celera8116,758,340 - 116,840,155 (-)NCBICelera
Cytogenetic Map8q24.12NCBI
HuRef8115,890,120 - 115,971,909 (-)NCBIHuRef
CHM1_18120,609,842 - 120,691,629 (-)NCBICHM1_1
T2T-CHM13v2.08120,685,947 - 120,802,252 (-)NCBIT2T-CHM13v2.0
Enpp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,702,297 - 54,816,284 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1554,702,297 - 54,816,288 (-)EnsemblGRCm39 Ensembl
GRCm381554,838,901 - 54,952,789 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1554,838,901 - 54,952,892 (-)EnsemblGRCm38mm10GRCm38
MGSCv371554,670,453 - 54,751,701 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361554,668,984 - 54,750,085 (-)NCBIMGSCv36mm8
Celera1556,378,103 - 56,459,629 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1521.6NCBI
Enpp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8788,092,140 - 88,214,758 (-)NCBIGRCr8
mRatBN7.2786,202,345 - 86,325,050 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl786,202,350 - 86,324,827 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx788,094,023 - 88,174,188 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0790,295,230 - 90,375,410 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0790,100,706 - 90,180,878 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0794,479,931 - 94,563,086 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl794,480,396 - 94,563,001 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0795,120,407 - 95,202,176 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4791,295,824 - 91,377,850 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1791,330,053 - 91,412,080 (-)NCBI
Celera783,005,494 - 83,085,339 (-)NCBICelera
Cytogenetic Map7q32NCBI
Enpp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541725,308,361 - 25,384,443 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541725,308,424 - 25,384,307 (-)NCBIChiLan1.0ChiLan1.0
ENPP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27136,983,916 - 137,100,575 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18112,495,861 - 112,612,481 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08116,248,587 - 116,364,966 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18118,998,530 - 119,114,271 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8118,998,530 - 119,114,273 (-)Ensemblpanpan1.1panPan2
ENPP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,586,886 - 18,697,339 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,587,129 - 18,697,324 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,592,370 - 18,703,990 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01318,914,487 - 19,026,345 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1318,914,493 - 19,026,330 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11318,641,970 - 18,753,536 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01318,740,906 - 18,852,507 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01318,972,068 - 19,083,534 (-)NCBIUU_Cfam_GSD_1.0
Enpp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,568,579 - 19,673,659 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647026,994,215 - 27,100,999 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647026,994,549 - 27,099,758 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENPP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl419,319,810 - 19,433,488 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1419,319,815 - 19,433,492 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2420,337,269 - 20,453,087 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ENPP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18114,113,780 - 114,232,656 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8114,113,778 - 114,195,956 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603926,053,797 - 26,176,243 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Enpp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476317,677,722 - 17,765,292 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476317,677,825 - 17,775,284 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENPP2
73 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21		 pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12		 pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q24.12(chr8:119336700-119893839)x3 copy number gain See cases [RCV000136693] Chr8:119336700..119893839 [GRCh38]
Chr8:120348940..120906079 [GRCh37]
Chr8:120418121..120975260 [NCBI36]
Chr8:8q24.12		 uncertain significance
GRCh38/hg38 8q24.12(chr8:118899704-119750010)x1 copy number loss See cases [RCV000137740] Chr8:118899704..119750010 [GRCh38]
Chr8:119911943..120762250 [GRCh37]
Chr8:119981124..120831431 [NCBI36]
Chr8:8q24.12		 likely benign
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 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 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3 copy number gain See cases [RCV000139886] Chr8:118626991..119703035 [GRCh38]
Chr8:119639230..120715275 [GRCh37]
Chr8:119708411..120784456 [NCBI36]
Chr8:8q24.12		 uncertain significance
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 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
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
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.12(chr8:119936372-120651018)x3 copy number gain See cases [RCV000447347] Chr8:119936372..120651018 [GRCh37]
Chr8:8q24.12		 uncertain significance
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 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.12(chr8:120602818-120960053)x3 copy number gain See cases [RCV000447837] Chr8:120602818..120960053 [GRCh37]
Chr8:8q24.12		 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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 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
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_001040092.3(ENPP2):c.217G>A (p.Asp73Asn) single nucleotide variant not specified [RCV004304382] Chr8:119626640 [GRCh38]
Chr8:120638880 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2381T>C (p.Phe794Ser) single nucleotide variant not specified [RCV004294305] Chr8:119562897 [GRCh38]
Chr8:120575137 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.149C>A (p.Ser50Tyr) single nucleotide variant not specified [RCV004309347] Chr8:119626708 [GRCh38]
Chr8:120638948 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
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 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
NM_001040092.3(ENPP2):c.2395C>T (p.Arg799Trp) single nucleotide variant not provided [RCV000714755]|not specified [RCV004026837] Chr8:119562883 [GRCh38]
Chr8:120575123 [GRCh37]
Chr8:8q24.12		 uncertain significance
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21		 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 8q24.12(chr8:120582871-120958270)x3 copy number gain not provided [RCV000747800] Chr8:120582871..120958270 [GRCh37]
Chr8:8q24.12		 benign
NM_001040092.3(ENPP2):c.973-2129G>A single nucleotide variant not provided [RCV000949746] Chr8:119595989 [GRCh38]
Chr8:120608229 [GRCh37]
Chr8:8q24.12		 benign
NM_001040092.3(ENPP2):c.1730A>G (p.Asn577Ser) single nucleotide variant not provided [RCV000886830] Chr8:119580166 [GRCh38]
Chr8:120592406 [GRCh37]
Chr8:8q24.12		 benign
NM_001040092.3(ENPP2):c.2530C>T (p.Arg844Cys) single nucleotide variant not provided [RCV000963494] Chr8:119557583 [GRCh38]
Chr8:120569823 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_001040092.3(ENPP2):c.973-2122T>C single nucleotide variant not provided [RCV000971904] Chr8:119595982 [GRCh38]
Chr8:120608222 [GRCh37]
Chr8:8q24.12		 benign
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13		 pathogenic
NM_001040092.3(ENPP2):c.1627A>T (p.Thr543Ser) single nucleotide variant not specified [RCV004297049] Chr8:119582519 [GRCh38]
Chr8:120594759 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2264+7G>A single nucleotide variant not provided [RCV000958363] Chr8:119564816 [GRCh38]
Chr8:120577056 [GRCh37]
Chr8:8q24.12		 benign
GRCh37/hg19 8q24.12(chr8:120572884-120976352)x3 copy number gain not provided [RCV000849946] Chr8:120572884..120976352 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 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_001040092.3(ENPP2):c.1446C>A (p.Asn482Lys) single nucleotide variant not specified [RCV004284028] Chr8:119583971 [GRCh38]
Chr8:120596211 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1048C>T (p.Arg350Trp) single nucleotide variant not specified [RCV004293750] Chr8:119593785 [GRCh38]
Chr8:120606025 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
NC_000008.10:g.(?_118811951)_(120844804_?)dup duplication not provided [RCV003107712] Chr8:118811951..120844804 [GRCh37]
Chr8:8q24.11-24.12		 uncertain significance
NC_000008.10:g.(?_117859739)_(120844804_?)del deletion not provided [RCV003107713] Chr8:117859739..120844804 [GRCh37]
Chr8:8q24.11-24.12		 pathogenic
NM_001040092.3(ENPP2):c.480-4T>G single nucleotide variant not provided [RCV000886831] Chr8:119617567 [GRCh38]
Chr8:120629807 [GRCh37]
Chr8:8q24.12		 benign
GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1 copy number loss not provided [RCV002472649] Chr8:118645068..121684174 [GRCh37]
Chr8:8q24.11-24.12		 pathogenic
GRCh37/hg19 8q24.12(chr8:120577149-120973977)x3 copy number gain not provided [RCV001006139] Chr8:120577149..120973977 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018) copy number loss not specified [RCV002053793] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_116426251)_(120844804_?)del deletion Trichorhinophalangeal syndrome, type III [RCV004583270] Chr8:116426251..120844804 [GRCh37]
Chr8:8q23.3-24.12		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_117647788)_(120797526_?)dup duplication Multiple congenital exostosis [RCV003119346] Chr8:117647788..120797526 [GRCh37]
Chr8:8q23.3-24.12		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_001040092.3(ENPP2):c.718G>T (p.Ala240Ser) single nucleotide variant not specified [RCV004323780] Chr8:119616324 [GRCh38]
Chr8:120628564 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q24.11-24.12(chr8:118492577-121075880)x3 copy number gain not provided [RCV002474721] Chr8:118492577..121075880 [GRCh37]
Chr8:8q24.11-24.12		 uncertain significance
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
NM_001040092.3(ENPP2):c.1753C>T (p.Arg585Trp) single nucleotide variant not specified [RCV004194344] Chr8:119580143 [GRCh38]
Chr8:120592383 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1941C>G (p.Asp647Glu) single nucleotide variant not specified [RCV004189825] Chr8:119569347 [GRCh38]
Chr8:120581587 [GRCh37]
Chr8:8q24.12		 likely benign
NM_001040092.3(ENPP2):c.973-2023G>C single nucleotide variant not specified [RCV004097479] Chr8:119595883 [GRCh38]
Chr8:120608123 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1212C>A (p.Asp404Glu) single nucleotide variant not specified [RCV004221691] Chr8:119587071 [GRCh38]
Chr8:120599311 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2240A>G (p.His747Arg) single nucleotide variant not specified [RCV004111292] Chr8:119564847 [GRCh38]
Chr8:120577087 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1819C>T (p.Arg607Trp) single nucleotide variant not specified [RCV004229729] Chr8:119570803 [GRCh38]
Chr8:120583043 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2483G>A (p.Arg828His) single nucleotide variant not specified [RCV004076011] Chr8:119557630 [GRCh38]
Chr8:120569870 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.338A>G (p.Asn113Ser) single nucleotide variant not specified [RCV004157177] Chr8:119621474 [GRCh38]
Chr8:120633714 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.365A>G (p.Glu122Gly) single nucleotide variant not specified [RCV004211852] Chr8:119621447 [GRCh38]
Chr8:120633687 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2308A>G (p.Ser770Gly) single nucleotide variant not specified [RCV004180018] Chr8:119562970 [GRCh38]
Chr8:120575210 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1808C>A (p.Ala603Glu) single nucleotide variant not specified [RCV004109423] Chr8:119570814 [GRCh38]
Chr8:120583054 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.425C>T (p.Ser142Leu) single nucleotide variant not specified [RCV004136514] Chr8:119619298 [GRCh38]
Chr8:120631538 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.295C>T (p.Arg99Cys) single nucleotide variant not specified [RCV004209821] Chr8:119621517 [GRCh38]
Chr8:120633757 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2396G>A (p.Arg799Gln) single nucleotide variant not specified [RCV004181050] Chr8:119562882 [GRCh38]
Chr8:120575122 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2225A>C (p.Asp742Ala) single nucleotide variant not specified [RCV004124224] Chr8:119564862 [GRCh38]
Chr8:120577102 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2251G>A (p.Asp751Asn) single nucleotide variant not specified [RCV004075699] Chr8:119564836 [GRCh38]
Chr8:120577076 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.296G>A (p.Arg99His) single nucleotide variant not specified [RCV004079170] Chr8:119621516 [GRCh38]
Chr8:120633756 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.754C>T (p.His252Tyr) single nucleotide variant not specified [RCV004279092] Chr8:119616288 [GRCh38]
Chr8:120628528 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.973-2026T>G single nucleotide variant not specified [RCV004274481] Chr8:119595886 [GRCh38]
Chr8:120608126 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.323G>A (p.Cys108Tyr) single nucleotide variant not specified [RCV004271756] Chr8:119621489 [GRCh38]
Chr8:120633729 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.429T>A (p.His143Gln) single nucleotide variant not specified [RCV004261468] Chr8:119619294 [GRCh38]
Chr8:120631534 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 copy number loss Exostoses, multiple, type 1 [RCV003329505] Chr8:118185471..126635744 [GRCh37]
Chr8:8q24.11-24.13		 pathogenic
NM_001040092.3(ENPP2):c.1636G>C (p.Glu546Gln) single nucleotide variant not specified [RCV004336549] Chr8:119582510 [GRCh38]
Chr8:120594750 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.559C>A (p.Pro187Thr) single nucleotide variant not specified [RCV004357701] Chr8:119617484 [GRCh38]
Chr8:120629724 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2311A>G (p.Ile771Val) single nucleotide variant not specified [RCV004346762] Chr8:119562967 [GRCh38]
Chr8:120575207 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1651C>G (p.Pro551Ala) single nucleotide variant not specified [RCV004346462] Chr8:119582495 [GRCh38]
Chr8:120594735 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1781-1341A>C single nucleotide variant not provided [RCV003435612] Chr8:119572182 [GRCh38]
Chr8:120584422 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1059C>T (p.Asn353=) single nucleotide variant not provided [RCV003435613] Chr8:119593774 [GRCh38]
Chr8:120606014 [GRCh37]
Chr8:8q24.12		 likely benign
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
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 copy number loss not specified [RCV003986782] Chr8:118071721..132774256 [GRCh37]
Chr8:8q24.11-24.22		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_001040092.3(ENPP2):c.974T>C (p.Met325Thr) single nucleotide variant not specified [RCV004382865] Chr8:119593859 [GRCh38]
Chr8:120606099 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.554T>A (p.Val185Asp) single nucleotide variant not specified [RCV004382875] Chr8:119617489 [GRCh38]
Chr8:120629729 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.968C>T (p.Pro323Leu) single nucleotide variant not specified [RCV004382878] Chr8:119600682 [GRCh38]
Chr8:120612922 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.965G>T (p.Gly322Val) single nucleotide variant not specified [RCV004382877] Chr8:119600685 [GRCh38]
Chr8:120612925 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1777G>A (p.Glu593Lys) single nucleotide variant not specified [RCV004382868] Chr8:119580119 [GRCh38]
Chr8:120592359 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.196C>T (p.Leu66Phe) single nucleotide variant not specified [RCV004382869] Chr8:119626661 [GRCh38]
Chr8:120638901 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.458A>G (p.Lys153Arg) single nucleotide variant not specified [RCV004382872] Chr8:119619265 [GRCh38]
Chr8:120631505 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.464C>T (p.Ala155Val) single nucleotide variant not specified [RCV004382873] Chr8:119619259 [GRCh38]
Chr8:120631499 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.355C>G (p.His119Asp) single nucleotide variant not specified [RCV004382871] Chr8:119621457 [GRCh38]
Chr8:120633697 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.79G>A (p.Gly27Arg) single nucleotide variant not specified [RCV004382876] Chr8:119638482 [GRCh38]
Chr8:120650722 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.539A>G (p.Lys180Arg) single nucleotide variant not specified [RCV004382874] Chr8:119617504 [GRCh38]
Chr8:120629744 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.16T>G (p.Ser6Ala) single nucleotide variant not specified [RCV004382866] Chr8:119638765 [GRCh38]
Chr8:120651005 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2557A>G (p.Lys853Glu) single nucleotide variant not specified [RCV004382870] Chr8:119557556 [GRCh38]
Chr8:120569796 [GRCh37]
Chr8:8q24.12		 uncertain significance
NC_000008.10:g.(?_116426251)_(120844804_?)dup duplication Multiple congenital exostosis [RCV004583164]|Trichorhinophalangeal syndrome, type III [RCV004583165] Chr8:116426251..120844804 [GRCh37]
Chr8:8q23.3-24.12		 uncertain significance
NC_000008.10:g.(?_118649470)_(122282519_?)del deletion Multiple congenital exostosis [RCV004583162] Chr8:118649470..122282519 [GRCh37]
Chr8:8q24.11-24.12		 pathogenic
NM_001040092.3(ENPP2):c.1594A>C (p.Asn532His) single nucleotide variant not specified [RCV004625075] Chr8:119582552 [GRCh38]
Chr8:120594792 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1049G>A (p.Arg350Gln) single nucleotide variant not specified [RCV004625076] Chr8:119593784 [GRCh38]
Chr8:120606024 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.2068C>T (p.Pro690Ser) single nucleotide variant not specified [RCV004625078] Chr8:119568238 [GRCh38]
Chr8:120580478 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.223C>T (p.Arg75Cys) single nucleotide variant not specified [RCV004625079] Chr8:119626634 [GRCh38]
Chr8:120638874 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.695C>T (p.Ser232Leu) single nucleotide variant not specified [RCV004625080] Chr8:119616347 [GRCh38]
Chr8:120628587 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1254T>G (p.Asp418Glu) single nucleotide variant not specified [RCV004625081] Chr8:119586299 [GRCh38]
Chr8:120598539 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.752A>C (p.Asn251Thr) single nucleotide variant not specified [RCV004625082] Chr8:119616290 [GRCh38]
Chr8:120628530 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1546C>T (p.Leu516Phe) single nucleotide variant not specified [RCV004625083] Chr8:119582600 [GRCh38]
Chr8:120594840 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1607G>T (p.Arg536Leu) single nucleotide variant not specified [RCV004625084] Chr8:119582539 [GRCh38]
Chr8:120594779 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_001040092.3(ENPP2):c.1164A>G (p.Gly388=) single nucleotide variant not provided [RCV004722401] Chr8:119590548 [GRCh38]
Chr8:120602788 [GRCh37]
Chr8:8q24.12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:807
Count of miRNA genes:445
Interacting mature miRNAs:485
Transcripts:ENST00000075322, ENST00000259486, ENST00000427067, ENST00000518109, ENST00000518958, ENST00000520066, ENST00000522167, ENST00000522826, ENST00000523861
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406941303GWAS590279_Hcortical surface area measurement QTL GWAS590279 (human)4e-14cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)8119583783119583784Human
407050620GWAS699596_Hbody height QTL GWAS699596 (human)0.000006body height (VT:0001253)body height (CMO:0000106)8119635689119635690Human

Markers in Region
D8S269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,574,003 - 120,574,102UniSTSGRCh37
Celera8116,763,024 - 116,763,123UniSTS
HuRef8115,894,806 - 115,894,905UniSTS
Marshfield Genetic Map8127.01RGD
Marshfield Genetic Map8127.01UniSTS
Genethon Genetic Map8125.8UniSTS
TNG Radiation Hybrid Map857723.0UniSTS
deCODE Assembly Map8120.37UniSTS
GeneMap99-GB4 RH Map8463.64UniSTS
Whitehead-RH Map8619.7UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH41114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,569,583 - 120,569,820UniSTSGRCh37
Build 368120,638,764 - 120,639,001RGDNCBI36
Celera8116,758,604 - 116,758,841RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,890,386 - 115,890,623UniSTS
GeneMap99-GB4 RH Map5138.08UniSTS
D8S1677E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,569,328 - 120,569,405UniSTSGRCh37
Build 368120,638,509 - 120,638,586RGDNCBI36
Celera8116,758,349 - 116,758,426RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,890,131 - 115,890,208UniSTS
SHGC-111401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,639,142 - 120,639,454UniSTSGRCh37
Build 368120,708,323 - 120,708,635RGDNCBI36
Celera8116,828,193 - 116,828,505RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,959,937 - 115,960,249UniSTS
TNG Radiation Hybrid Map857740.0UniSTS
SHGC-112215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,590,662 - 120,591,002UniSTSGRCh37
Build 368120,659,843 - 120,660,183RGDNCBI36
Celera8116,779,685 - 116,780,025RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,911,467 - 115,911,807UniSTS
TNG Radiation Hybrid Map857729.0UniSTS
SHGC-142128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,570,955 - 120,571,295UniSTSGRCh37
Build 368120,640,136 - 120,640,476RGDNCBI36
Celera8116,759,976 - 116,760,316RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,891,758 - 115,892,098UniSTS
TNG Radiation Hybrid Map857714.0UniSTS
A009G17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,590,468 - 120,590,612UniSTSGRCh37
GRCh371821,340,723 - 21,342,396UniSTSGRCh37
Build 368120,659,649 - 120,659,793RGDNCBI36
Celera1818,156,995 - 18,158,668UniSTS
Celera8116,779,491 - 116,779,635RGD
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map8q24.1UniSTS
HuRef8115,911,273 - 115,911,417UniSTS
HuRef1818,196,173 - 18,197,846UniSTS
GeneMap99-GB4 RH Map8463.74UniSTS
RH69056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,569,616 - 120,569,770UniSTSGRCh37
Build 368120,638,797 - 120,638,951RGDNCBI36
Celera8116,758,637 - 116,758,791RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,890,419 - 115,890,573UniSTS
GeneMap99-GB4 RH Map8466.07UniSTS
WI-21702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,588,784 - 120,588,988UniSTSGRCh37
Build 368120,657,965 - 120,658,169RGDNCBI36
Celera8116,777,807 - 116,778,011RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,909,589 - 115,909,793UniSTS
GeneMap99-GB4 RH Map8461.81UniSTS
Whitehead-RH Map8618.3UniSTS
SHGC-12938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,569,401 - 120,569,749UniSTSGRCh37
Build 368120,638,582 - 120,638,930RGDNCBI36
Celera8116,758,422 - 116,758,770RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,890,204 - 115,890,552UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map83251.0UniSTS
STS-R51085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,588,786 - 120,588,923UniSTSGRCh37
Build 368120,657,967 - 120,658,104RGDNCBI36
Celera8116,777,809 - 116,777,946RGD
Cytogenetic Map8q24.1UniSTS
HuRef8115,909,591 - 115,909,728UniSTS
GeneMap99-GB4 RH Map8463.74UniSTS
G32527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,590,468 - 120,590,612UniSTSGRCh37
Celera8116,779,491 - 116,779,635UniSTS
Cytogenetic Map8q24.1UniSTS
HuRef8115,911,273 - 115,911,417UniSTS
D8S269  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.1UniSTS
TNG Radiation Hybrid Map857718.0UniSTS
GeneMap99-GB4 RH Map8463.64UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2368 2788 2237 4962 1720 2269 5 622 1864 461 2266 7157 6383 44 3725 1 838 1709 1539 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA256687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI339551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI375195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL544867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM694754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ365938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU731264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA390514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D45421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D45914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA919550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA922156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB468753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC338843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU131011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L35594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000075322   ⟹   ENSP00000075322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,557,086 - 119,638,839 (-)Ensembl
Ensembl Acc Id: ENST00000259486   ⟹   ENSP00000259486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,557,086 - 119,638,830 (-)Ensembl
Ensembl Acc Id: ENST00000427067   ⟹   ENSP00000403315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,557,086 - 119,673,453 (-)Ensembl
Ensembl Acc Id: ENST00000518109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,572,620 - 119,578,485 (-)Ensembl
Ensembl Acc Id: ENST00000518958   ⟹   ENSP00000429447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,616,269 - 119,638,824 (-)Ensembl
Ensembl Acc Id: ENST00000520066   ⟹   ENSP00000428304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,616,253 - 119,638,814 (-)Ensembl
Ensembl Acc Id: ENST00000522167   ⟹   ENSP00000429476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,557,409 - 119,593,008 (-)Ensembl
Ensembl Acc Id: ENST00000522826   ⟹   ENSP00000428291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,557,521 - 119,638,780 (-)Ensembl
Ensembl Acc Id: ENST00000523861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8119,557,087 - 119,581,107 (-)Ensembl
RefSeq Acc Id: NM_001040092   ⟹   NP_001035181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
GRCh378120,569,317 - 120,685,644 (-)NCBI
Build 368120,638,500 - 120,720,287 (-)NCBI Archive
HuRef8115,890,120 - 115,971,909 (-)NCBI
CHM1_18120,609,842 - 120,691,629 (-)NCBI
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130863   ⟹   NP_001124335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
GRCh378120,569,317 - 120,685,644 (-)NCBI
HuRef8115,890,120 - 115,971,909 (-)NCBI
CHM1_18120,609,842 - 120,691,629 (-)NCBI
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330600   ⟹   NP_001317529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,673,390 (-)NCBI
T2T-CHM13v2.08120,685,947 - 120,802,252 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006209   ⟹   NP_006200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
GRCh378120,569,317 - 120,685,644 (-)NCBI
Build 368120,638,500 - 120,720,287 (-)NCBI Archive
HuRef8115,890,120 - 115,971,909 (-)NCBI
CHM1_18120,609,842 - 120,691,629 (-)NCBI
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045555
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,592,979 (-)NCBI
GRCh378120,569,317 - 120,685,644 (-)NCBI
HuRef8115,890,120 - 115,971,909 (-)NCBI
CHM1_18120,609,842 - 120,645,769 (-)NCBI
T2T-CHM13v2.08120,685,947 - 120,721,845 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716584   ⟹   XP_006716647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716585   ⟹   XP_006716648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716587   ⟹   XP_006716650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013572   ⟹   XP_016869061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013573   ⟹   XP_016869062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,673,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013574   ⟹   XP_016869063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,673,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013575   ⟹   XP_016869064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,638,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447181   ⟹   XP_024302949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,673,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447182   ⟹   XP_024302950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,557,086 - 119,673,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054360648   ⟹   XP_054216623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
RefSeq Acc Id: XM_054360649   ⟹   XP_054216624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,802,252 (-)NCBI
RefSeq Acc Id: XM_054360650   ⟹   XP_054216625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
RefSeq Acc Id: XM_054360651   ⟹   XP_054216626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
RefSeq Acc Id: XM_054360652   ⟹   XP_054216627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
RefSeq Acc Id: XM_054360653   ⟹   XP_054216628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,802,252 (-)NCBI
RefSeq Acc Id: XM_054360654   ⟹   XP_054216629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,767,695 (-)NCBI
RefSeq Acc Id: XM_054360655   ⟹   XP_054216630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,802,252 (-)NCBI
RefSeq Acc Id: XM_054360656   ⟹   XP_054216631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08120,685,947 - 120,802,252 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001035181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124335 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317529 (Get FASTA)   NCBI Sequence Viewer  
  NP_006200 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716647 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716648 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716650 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869061 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869062 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869063 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869064 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302949 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302950 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216623 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216624 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216625 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216626 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216627 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216628 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216629 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216630 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216631 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA64785 (Get FASTA)   NCBI Sequence Viewer  
  AAB00855 (Get FASTA)   NCBI Sequence Viewer  
  AAH34961 (Get FASTA)   NCBI Sequence Viewer  
  ABW38316 (Get FASTA)   NCBI Sequence Viewer  
  BAA08260 (Get FASTA)   NCBI Sequence Viewer  
  BAA08342 (Get FASTA)   NCBI Sequence Viewer  
  BAG58795 (Get FASTA)   NCBI Sequence Viewer  
  CCF77047 (Get FASTA)   NCBI Sequence Viewer  
  CCF77048 (Get FASTA)   NCBI Sequence Viewer  
  CCF77049 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43347 (Get FASTA)   NCBI Sequence Viewer  
  EAW91986 (Get FASTA)   NCBI Sequence Viewer  
  EAW91987 (Get FASTA)   NCBI Sequence Viewer  
  EAW91988 (Get FASTA)   NCBI Sequence Viewer  
  EAW91989 (Get FASTA)   NCBI Sequence Viewer  
  EAW91990 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000075322
  ENSP00000075322.6
  ENSP00000259486
  ENSP00000259486.6
  ENSP00000403315
  ENSP00000403315.2
  ENSP00000428291
  ENSP00000428291.1
  ENSP00000428304.1
  ENSP00000429447.1
  ENSP00000429476.1
GenBank Protein Q13822 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001035181   ⟸   NM_001040092
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q9UCR3 (UniProtKB/Swiss-Prot),   Q9UCR2 (UniProtKB/Swiss-Prot),   Q9UCR1 (UniProtKB/Swiss-Prot),   Q9UCR0 (UniProtKB/Swiss-Prot),   Q9UCQ8 (UniProtKB/Swiss-Prot),   Q15117 (UniProtKB/Swiss-Prot),   Q14555 (UniProtKB/Swiss-Prot),   Q13827 (UniProtKB/Swiss-Prot),   E9PHP7 (UniProtKB/Swiss-Prot),   A8UHA1 (UniProtKB/Swiss-Prot),   Q9UCR4 (UniProtKB/Swiss-Prot),   Q13822 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006200   ⟸   NM_006209
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q13822 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124335   ⟸   NM_001130863
- Peptide Label: isoform 3 preproprotein
- UniProtKB: Q13822 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716650   ⟸   XM_006716587
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006716648   ⟸   XM_006716585
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006716647   ⟸   XM_006716584
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869062   ⟸   XM_017013573
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869063   ⟸   XM_017013574
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869064   ⟸   XM_017013575
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016869061   ⟸   XM_017013572
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024302950   ⟸   XM_024447182
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_024302949   ⟸   XM_024447181
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001317529   ⟸   NM_001330600
- Peptide Label: isoform 4
- UniProtKB: E7EUF1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000429447   ⟸   ENST00000518958
Ensembl Acc Id: ENSP00000403315   ⟸   ENST00000427067
Ensembl Acc Id: ENSP00000259486   ⟸   ENST00000259486
Ensembl Acc Id: ENSP00000428304   ⟸   ENST00000520066
Ensembl Acc Id: ENSP00000075322   ⟸   ENST00000075322
Ensembl Acc Id: ENSP00000429476   ⟸   ENST00000522167
Ensembl Acc Id: ENSP00000428291   ⟸   ENST00000522826
RefSeq Acc Id: XP_054216631   ⟸   XM_054360656
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054216628   ⟸   XM_054360653
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054216630   ⟸   XM_054360655
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054216624   ⟸   XM_054360649
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216629   ⟸   XM_054360654
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054216627   ⟸   XM_054360652
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216626   ⟸   XM_054360651
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216625   ⟸   XM_054360650
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216623   ⟸   XM_054360648
- Peptide Label: isoform X1
Protein Domains
DNA/RNA non-specific   ENPP1-3/EXOG-like endonuclease/phosphodiesterase   SMB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13822-F1-model_v2 AlphaFold Q13822 1-863 view protein structure

Promoters
RGD ID:7214065
Promoter ID:EPDNEW_H12778
Type:initiation region
Name:ENPP2_1
Description:ectonucleotide pyrophosphatase/phosphodiesterase 2
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
GRCh388119,638,839 - 119,638,899EPDNEW
RGD ID:6806629
Promoter ID:HG_KWN:61984
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001040092,   NM_006209,   UC010MDD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368120,720,031 - 120,720,531 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3357 AgrOrtholog
COSMIC ENPP2 COSMIC
Ensembl Genes ENSG00000136960 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000075322 ENTREZGENE
  ENST00000075322.11 UniProtKB/Swiss-Prot
  ENST00000259486 ENTREZGENE
  ENST00000259486.10 UniProtKB/Swiss-Prot
  ENST00000427067 ENTREZGENE
  ENST00000427067.6 UniProtKB/TrEMBL
  ENST00000518958.1 UniProtKB/TrEMBL
  ENST00000520066.5 UniProtKB/TrEMBL
  ENST00000522167 ENTREZGENE
  ENST00000522167.5 UniProtKB/TrEMBL
  ENST00000522826 ENTREZGENE
  ENST00000522826.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.570.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.720.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.410.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136960 GTEx
HGNC ID HGNC:3357 ENTREZGENE
Human Proteome Map ENPP2 Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_non-sp_Endonuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_non-sp_Endonuclease_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Extracellular_endonuc_su_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His-Me_finger_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphodiest/P_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatomedin_B-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatomedin_B_chordata UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatomedin_B_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5168 UniProtKB/Swiss-Prot
NCBI Gene 5168 ENTREZGENE
OMIM 601060 OMIM
PANTHER ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10151:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Endonuclease_NS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphodiest UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatomedin_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27792 PharmGKB
PRINTS SOMATOMEDINB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SMB_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Endonuclease_NS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00201 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90188 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8UHA1 ENTREZGENE
  E5RIA2_HUMAN UniProtKB/TrEMBL
  E5RIB9_HUMAN UniProtKB/TrEMBL
  E5RJ49_HUMAN UniProtKB/TrEMBL
  E7EUF1 ENTREZGENE, UniProtKB/TrEMBL
  E9PHP7 ENTREZGENE
  ENPP2_HUMAN UniProtKB/Swiss-Prot
  L8ECC9_HUMAN UniProtKB/TrEMBL
  Q13822 ENTREZGENE
  Q13827 ENTREZGENE
  Q14555 ENTREZGENE
  Q15117 ENTREZGENE
  Q9UCQ8 ENTREZGENE
  Q9UCR0 ENTREZGENE
  Q9UCR1 ENTREZGENE
  Q9UCR2 ENTREZGENE
  Q9UCR3 ENTREZGENE
  Q9UCR4 ENTREZGENE
UniProt Secondary A8UHA1 UniProtKB/Swiss-Prot
  E9PHP7 UniProtKB/Swiss-Prot
  Q13827 UniProtKB/Swiss-Prot
  Q14555 UniProtKB/Swiss-Prot
  Q15117 UniProtKB/Swiss-Prot
  Q9UCQ8 UniProtKB/Swiss-Prot
  Q9UCR0 UniProtKB/Swiss-Prot
  Q9UCR1 UniProtKB/Swiss-Prot
  Q9UCR2 UniProtKB/Swiss-Prot
  Q9UCR3 UniProtKB/Swiss-Prot
  Q9UCR4 UniProtKB/Swiss-Prot