ENPP4 (ectonucleotide pyrophosphatase/phosphodiesterase 4) - Rat Genome Database

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Gene: ENPP4 (ectonucleotide pyrophosphatase/phosphodiesterase 4) Homo sapiens
Analyze
Symbol: ENPP4
Name: ectonucleotide pyrophosphatase/phosphodiesterase 4
RGD ID: 1318608
HGNC Page HGNC:3359
Description: Enables bis(5'-adenosyl)-triphosphatase activity. Involved in positive regulation of blood coagulation and purine ribonucleoside catabolic process. Located in extracellular exosome and membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AP3A hydrolase; AP3Aase; bis(5'-adenosyl)-triphosphatase ENPP4; E-NPP 4; ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function); ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative); ectonucleotide pyrophosphatase/phosphodiesterase family member 4; KIAA0879; NPP-4; NPP4
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
GRCh38646,129,989 - 46,146,688 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl646,129,989 - 46,146,688 (+)EnsemblGRCh38hg38GRCh38
GRCh37646,097,726 - 46,114,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36646,205,871 - 46,222,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 34646,205,870 - 46,222,237NCBI
Celera647,650,241 - 47,666,973 (+)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef645,820,747 - 45,837,481 (+)NCBIHuRef
CHM1_1646,100,957 - 46,117,681 (+)NCBICHM1_1
T2T-CHM13v2.0645,965,077 - 45,981,776 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10048485   PMID:11027689   PMID:12477932   PMID:16344560   PMID:19056867   PMID:19490893   PMID:19946888   PMID:21873635   PMID:22995898   PMID:24338010   PMID:26186194   PMID:28514442  
PMID:32296183   PMID:33961781   PMID:35271311   PMID:36215168  


Genomics

Comparative Map Data
ENPP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38646,129,989 - 46,146,688 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl646,129,989 - 46,146,688 (+)EnsemblGRCh38hg38GRCh38
GRCh37646,097,726 - 46,114,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36646,205,871 - 46,222,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 34646,205,870 - 46,222,237NCBI
Celera647,650,241 - 47,666,973 (+)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef645,820,747 - 45,837,481 (+)NCBIHuRef
CHM1_1646,100,957 - 46,117,681 (+)NCBICHM1_1
T2T-CHM13v2.0645,965,077 - 45,981,776 (+)NCBIT2T-CHM13v2.0
Enpp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391744,407,198 - 44,416,725 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1744,407,199 - 44,416,700 (-)EnsemblGRCm39 Ensembl
GRCm381744,096,307 - 44,105,809 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1744,096,308 - 44,105,809 (-)EnsemblGRCm38mm10GRCm38
MGSCv371744,233,258 - 44,242,757 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361743,559,364 - 43,568,863 (-)NCBIMGSCv36mm8
Celera1747,517,799 - 47,527,273 (-)NCBICelera
Cytogenetic Map17B3NCBI
cM Map1720.34NCBI
Enpp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8924,386,351 - 24,396,248 (+)NCBIGRCr8
mRatBN7.2916,888,923 - 16,898,860 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl916,887,739 - 16,898,860 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx925,473,036 - 25,482,764 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0930,547,557 - 30,557,287 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0928,836,767 - 28,846,497 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0919,446,807 - 19,457,946 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl919,448,269 - 19,457,946 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0918,325,162 - 18,336,443 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4912,552,834 - 12,562,511 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1912,549,935 - 12,556,776 (+)NCBI
Celera914,615,372 - 14,625,059 (+)NCBICelera
Cytogenetic Map9q13NCBI
Enpp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543711,169,778 - 11,188,156 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543711,169,778 - 11,187,544 (+)NCBIChiLan1.0ChiLan1.0
ENPP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2560,622,918 - 60,639,785 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1656,488,983 - 56,505,599 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0645,710,507 - 45,727,215 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1646,984,395 - 47,001,251 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl646,984,395 - 47,001,251 (+)Ensemblpanpan1.1panPan2
ENPP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11214,353,355 - 14,366,506 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1214,353,282 - 14,365,952 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1214,385,537 - 14,400,943 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01214,853,731 - 14,869,158 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1214,853,677 - 14,869,136 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11214,369,849 - 14,385,351 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01214,458,027 - 14,471,937 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01214,554,506 - 14,568,452 (+)NCBIUU_Cfam_GSD_1.0
Enpp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494649,756,158 - 49,771,879 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647614,191,479 - 14,195,618 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647614,188,328 - 14,204,063 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENPP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl740,896,470 - 40,912,426 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1740,896,392 - 40,913,609 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2747,160,730 - 47,171,612 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ENPP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11726,102,687 - 26,117,142 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1726,102,510 - 26,117,080 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604446,140,497 - 46,154,975 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Enpp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475414,305,062 - 14,312,018 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475414,302,709 - 14,316,914 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENPP4
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3		 pathogenic
NM_014936.4(ENPP4):c.328C>T (p.Pro110Ser) single nucleotide variant Malignant melanoma [RCV000061446] Chr6:46139911 [GRCh38]
Chr6:46107648 [GRCh37]
Chr6:46215607 [NCBI36]
Chr6:6p21.1		 not provided
GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3 copy number gain See cases [RCV000135580] Chr6:44985760..47986838 [GRCh38]
Chr6:44953497..47954574 [GRCh37]
Chr6:45061475..48062533 [NCBI36]
Chr6:6p21.1-12.3		 likely pathogenic
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1		 pathogenic|uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)x1 copy number loss See cases [RCV000446897] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014936.5(ENPP4):c.431A>G (p.His144Arg) single nucleotide variant not specified [RCV004317000] Chr6:46140014 [GRCh38]
Chr6:46107751 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1091C>A (p.Thr364Lys) single nucleotide variant not specified [RCV004321284] Chr6:46143369 [GRCh38]
Chr6:46111106 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014936.5(ENPP4):c.182A>G (p.His61Arg) single nucleotide variant not specified [RCV004304211] Chr6:46139765 [GRCh38]
Chr6:46107502 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_014936.5(ENPP4):c.541G>A (p.Ala181Thr) single nucleotide variant not specified [RCV004301445] Chr6:46140124 [GRCh38]
Chr6:46107861 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.933T>G (p.Ile311Met) single nucleotide variant not specified [RCV004265177] Chr6:46141158 [GRCh38]
Chr6:46108895 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p21.1(chr6:45284656-46157024)x3 copy number gain not provided [RCV001834542] Chr6:45284656..46157024 [GRCh37]
Chr6:6p21.1		 likely pathogenic
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320) copy number loss not specified [RCV002053568] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 pathogenic
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_014936.5(ENPP4):c.439A>C (p.Ile147Leu) single nucleotide variant not specified [RCV004210845] Chr6:46140022 [GRCh38]
Chr6:46107759 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1064C>G (p.Ala355Gly) single nucleotide variant not specified [RCV004115946] Chr6:46143342 [GRCh38]
Chr6:46111079 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.748A>T (p.Asn250Tyr) single nucleotide variant not specified [RCV004096437] Chr6:46140331 [GRCh38]
Chr6:46108068 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.568G>A (p.Ala190Thr) single nucleotide variant not specified [RCV004138079] Chr6:46140151 [GRCh38]
Chr6:46107888 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.436A>G (p.Thr146Ala) single nucleotide variant not specified [RCV004177090] Chr6:46140019 [GRCh38]
Chr6:46107756 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.569C>A (p.Ala190Glu) single nucleotide variant not specified [RCV004138080] Chr6:46140152 [GRCh38]
Chr6:46107889 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.586G>A (p.Gly196Arg) single nucleotide variant not specified [RCV004107755] Chr6:46140169 [GRCh38]
Chr6:46107906 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1093A>G (p.Ile365Val) single nucleotide variant not specified [RCV004234426] Chr6:46143371 [GRCh38]
Chr6:46111108 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.277A>T (p.Met93Leu) single nucleotide variant not specified [RCV004201393] Chr6:46139860 [GRCh38]
Chr6:46107597 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1249G>A (p.Val417Met) single nucleotide variant not specified [RCV004071429] Chr6:46143527 [GRCh38]
Chr6:46111264 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1306C>T (p.Arg436Cys) single nucleotide variant not specified [RCV004140374] Chr6:46143584 [GRCh38]
Chr6:46111321 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.827A>G (p.Asn276Ser) single nucleotide variant not specified [RCV004224144] Chr6:46141052 [GRCh38]
Chr6:46108789 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.302A>T (p.His101Leu) single nucleotide variant not specified [RCV004078894] Chr6:46139885 [GRCh38]
Chr6:46107622 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1303C>T (p.Pro435Ser) single nucleotide variant not specified [RCV004241467] Chr6:46143581 [GRCh38]
Chr6:46111318 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1235T>G (p.Ile412Ser) single nucleotide variant not specified [RCV004095953] Chr6:46143513 [GRCh38]
Chr6:46111250 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1315T>G (p.Ser439Ala) single nucleotide variant not specified [RCV004216813] Chr6:46143593 [GRCh38]
Chr6:46111330 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1355T>C (p.Ile452Thr) single nucleotide variant not specified [RCV004090521] Chr6:46143633 [GRCh38]
Chr6:46111370 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1216G>A (p.Glu406Lys) single nucleotide variant not specified [RCV004280517] Chr6:46143494 [GRCh38]
Chr6:46111231 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.929G>A (p.Arg310Gln) single nucleotide variant not specified [RCV004281274] Chr6:46141154 [GRCh38]
Chr6:46108891 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.31G>A (p.Gly11Arg) single nucleotide variant not specified [RCV004275965] Chr6:46139614 [GRCh38]
Chr6:46107351 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.68G>C (p.Ser23Thr) single nucleotide variant not specified [RCV004321152] Chr6:46139651 [GRCh38]
Chr6:46107388 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1225G>A (p.Ala409Thr) single nucleotide variant not specified [RCV004349860] Chr6:46143503 [GRCh38]
Chr6:46111240 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p21.1(chr6:44861182-46170500)x1 copy number loss See cases [RCV004442796] Chr6:44861182..46170500 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1071C>G (p.His357Gln) single nucleotide variant not specified [RCV004382897] Chr6:46143349 [GRCh38]
Chr6:46111086 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.300A>T (p.Lys100Asn) single nucleotide variant not specified [RCV004382900] Chr6:46139883 [GRCh38]
Chr6:46107620 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.320A>G (p.Asp107Gly) single nucleotide variant not specified [RCV004382902] Chr6:46139903 [GRCh38]
Chr6:46107640 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.838G>T (p.Val280Phe) single nucleotide variant not specified [RCV004384887] Chr6:46141063 [GRCh38]
Chr6:46108800 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.314C>T (p.Ser105Phe) single nucleotide variant not specified [RCV004382901] Chr6:46139897 [GRCh38]
Chr6:46107634 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014936.5(ENPP4):c.298A>G (p.Lys100Glu) single nucleotide variant not specified [RCV004382899] Chr6:46139881 [GRCh38]
Chr6:46107618 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.1226C>T (p.Ala409Val) single nucleotide variant not specified [RCV004625093] Chr6:46143504 [GRCh38]
Chr6:46111241 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.313T>A (p.Ser105Thr) single nucleotide variant not specified [RCV004625097] Chr6:46139896 [GRCh38]
Chr6:46107633 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.134A>G (p.Glu45Gly) single nucleotide variant not specified [RCV004625094] Chr6:46139717 [GRCh38]
Chr6:46107454 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.449A>T (p.Tyr150Phe) single nucleotide variant not specified [RCV004625095] Chr6:46140032 [GRCh38]
Chr6:46107769 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014936.5(ENPP4):c.883C>T (p.Leu295Phe) single nucleotide variant not specified [RCV004625096] Chr6:46141108 [GRCh38]
Chr6:46108845 [GRCh37]
Chr6:6p21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:826
Count of miRNA genes:476
Interacting mature miRNAs:547
Transcripts:ENST00000321037
Prediction methods:Miranda, 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
406911226GWAS560202_Hplasma trimethylamine N-oxide measurement QTL GWAS560202 (human)0.0000004plasma trimethylamine N-oxide measurement64613803746138038Human

Markers in Region
RH93605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37646,113,332 - 46,113,456UniSTSGRCh37
Build 36646,221,291 - 46,221,415RGDNCBI36
Celera647,665,869 - 47,665,993RGD
Cytogenetic Map6p21.1UniSTS
HuRef645,836,377 - 45,836,501UniSTS
GeneMap99-GB4 RH Map6174.86UniSTS
RH91244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37646,114,096 - 46,114,219UniSTSGRCh37
Build 36646,222,055 - 46,222,178RGDNCBI36
Celera647,666,633 - 47,666,756RGD
Cytogenetic Map6p21.1UniSTS
HuRef645,837,141 - 45,837,264UniSTS
GeneMap99-GB4 RH Map6173.61UniSTS
RH68105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37646,113,386 - 46,113,474UniSTSGRCh37
Build 36646,221,345 - 46,221,433RGDNCBI36
Celera647,665,923 - 47,666,011RGD
Cytogenetic Map6p21.1UniSTS
HuRef645,836,431 - 45,836,519UniSTS
GeneMap99-GB4 RH Map6179.63UniSTS
STS-AA037785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37646,113,816 - 46,113,937UniSTSGRCh37
Build 36646,221,775 - 46,221,896RGDNCBI36
Celera647,666,353 - 47,666,474RGD
Cytogenetic Map6p21.1UniSTS
HuRef645,836,861 - 45,836,982UniSTS
GeneMap99-GB4 RH Map6173.61UniSTS
NCBI RH Map6672.8UniSTS


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 2435 2788 2253 4932 1721 2339 5 622 1935 463 2246 7281 6454 51 3715 1 850 1730 1606 169 1

Sequence


Ensembl Acc Id: ENST00000321037   ⟹   ENSP00000318066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl646,129,989 - 46,146,688 (+)Ensembl
RefSeq Acc Id: NM_014936   ⟹   NP_055751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,129,989 - 46,146,688 (+)NCBI
GRCh37646,097,701 - 46,114,436 (+)RGD
Build 36646,205,871 - 46,222,237 (+)NCBI Archive
Celera647,650,241 - 47,666,973 (+)RGD
HuRef645,820,747 - 45,837,481 (+)ENTREZGENE
CHM1_1646,100,957 - 46,117,681 (+)NCBI
T2T-CHM13v2.0645,965,077 - 45,981,776 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_055751 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH18054 (Get FASTA)   NCBI Sequence Viewer  
  BAA74902 (Get FASTA)   NCBI Sequence Viewer  
  BAF83965 (Get FASTA)   NCBI Sequence Viewer  
  CAJ78397 (Get FASTA)   NCBI Sequence Viewer  
  EAX04292 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318066
  ENSP00000318066.3
GenBank Protein Q9Y6X5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055751   ⟸   NM_014936
- Peptide Label: precursor
- UniProtKB: A8K5G1 (UniProtKB/Swiss-Prot),   Q7L2N1 (UniProtKB/Swiss-Prot),   Q9Y6X5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000318066   ⟸   ENST00000321037

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6X5-F1-model_v2 AlphaFold Q9Y6X5 1-453 view protein structure

Promoters
RGD ID:7208243
Promoter ID:EPDNEW_H9863
Type:initiation region
Name:ENPP4_1
Description:ectonucleotide pyrophosphatase/phosphodiesterase 4
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
GRCh38646,130,055 - 46,130,115EPDNEW
RGD ID:6804711
Promoter ID:HG_KWN:53733
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000371401,   NM_014936,   OTTHUMT00000040775,   OTTHUMT00000040776
Position:
Human AssemblyChrPosition (strand)Source
Build 36646,204,351 - 46,205,807 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3359 AgrOrtholog
COSMIC ENPP4 COSMIC
Ensembl Genes ENSG00000001561 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321037 ENTREZGENE
  ENST00000321037.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1360.180 UniProtKB/Swiss-Prot
  3.40.720.10 UniProtKB/Swiss-Prot
GTEx ENSG00000001561 GTEx
HGNC ID HGNC:3359 ENTREZGENE
Human Proteome Map ENPP4 Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot
  Phosphodiest/P_Trfase UniProtKB/Swiss-Prot
KEGG Report hsa:22875 UniProtKB/Swiss-Prot
NCBI Gene 22875 ENTREZGENE
OMIM 617000 OMIM
PANTHER ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE UniProtKB/Swiss-Prot
  PTHR10151:SF79 UniProtKB/Swiss-Prot
Pfam Phosphodiest UniProtKB/Swiss-Prot
PharmGKB PA27794 PharmGKB
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot
UniProt A8K5G1 ENTREZGENE
  ENPP4_HUMAN UniProtKB/Swiss-Prot
  L8ECF4_HUMAN UniProtKB/TrEMBL
  Q7L2N1 ENTREZGENE
  Q9Y6X5 ENTREZGENE
UniProt Secondary A8K5G1 UniProtKB/Swiss-Prot
  Q7L2N1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-09-26 ENPP4  ectonucleotide pyrophosphatase/phosphodiesterase 4    ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)  Symbol and/or name change 5135510 APPROVED
2011-07-27 ENPP4  ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)  ENPP4  ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function)  Symbol and/or name change 5135510 APPROVED