ENPP7 (ectonucleotide pyrophosphatase/phosphodiesterase 7) - Rat Genome Database

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Gene: ENPP7 (ectonucleotide pyrophosphatase/phosphodiesterase 7) Homo sapiens
Analyze
Symbol: ENPP7
Name: ectonucleotide pyrophosphatase/phosphodiesterase 7
RGD ID: 1342953
HGNC Page HGNC
Description: Exhibits sphingomyelin phosphodiesterase activity and zinc ion binding activity. Involved in negative regulation of DNA replication; negative regulation of cell population proliferation; and sphingomyelin metabolic process. Localizes to Golgi apparatus; integral component of plasma membrane; and microvillus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALK-SMase; alkaline sphingomyelin phosphodiesterase; alkaline sphingomyelinase; E-NPP 7; ectonucleotide pyrophosphatase/phosphodiesterase family member 7; intestinal alkaline sphingomyelinase; MGC50179; NPP-7; NPP7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ENPP7P1   ENPP7P10   ENPP7P11   ENPP7P12   ENPP7P13   ENPP7P14   ENPP7P2   ENPP7P3   ENPP7P4   ENPP7P5   ENPP7P6   ENPP7P7   ENPP7P8   ENPP7P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1779,730,943 - 79,742,219 (+)EnsemblGRCh38hg38GRCh38
GRCh381779,730,919 - 79,742,926 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371777,704,705 - 77,716,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,319,477 - 75,330,616 (+)NCBINCBI36hg18NCBI36
Build 341775,319,476 - 75,330,615NCBI
Celera1774,329,818 - 74,341,104 (+)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1773,145,753 - 73,156,851 (+)NCBIHuRef
CHM1_11777,791,152 - 77,802,246 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:12671034   PMID:12885774   PMID:12975309   PMID:14702039   PMID:15016655   PMID:15205117   PMID:15340161   PMID:15458386   PMID:15489334   PMID:15708357   PMID:16255717  
PMID:16344560   PMID:20839774   PMID:21873635   PMID:22177013   PMID:25100243   PMID:28292932   PMID:28514442   PMID:32296183  


Genomics

Comparative Map Data
ENPP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1779,730,943 - 79,742,219 (+)EnsemblGRCh38hg38GRCh38
GRCh381779,730,919 - 79,742,926 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371777,704,705 - 77,716,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,319,477 - 75,330,616 (+)NCBINCBI36hg18NCBI36
Build 341775,319,476 - 75,330,615NCBI
Celera1774,329,818 - 74,341,104 (+)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1773,145,753 - 73,156,851 (+)NCBIHuRef
CHM1_11777,791,152 - 77,802,246 (+)NCBICHM1_1
Enpp7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911118,879,007 - 118,884,047 (+)NCBIGRCm39mm39
GRCm39 Ensembl11118,879,014 - 118,884,047 (+)Ensembl
GRCm3811118,988,181 - 118,993,221 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11118,988,188 - 118,993,221 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711118,849,502 - 118,854,155 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611118,804,278 - 118,808,931 (+)NCBImm8
Celera11130,732,697 - 130,737,351 (+)NCBICelera
Cytogenetic Map11E2NCBI
Enpp7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210104,242,223 - 104,246,589 (+)NCBI
Rnor_6.0 Ensembl10108,095,131 - 108,099,483 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.010108,095,131 - 108,099,483 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.010107,709,166 - 107,713,518 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera10102,790,410 - 102,794,661 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
Enpp7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555063,151,133 - 3,154,613 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555063,151,133 - 3,154,613 (-)NCBIChiLan1.0ChiLan1.0
ENPP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11779,347,505 - 79,359,349 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1779,347,505 - 79,359,349 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01773,811,249 - 73,822,719 (+)NCBIMhudiblu_PPA_v0panPan3
ENPP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.191,887,093 - 1,894,728 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl91,887,201 - 1,897,473 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha92,530,265 - 2,537,749 (-)NCBI
ROS_Cfam_1.092,522,957 - 2,530,442 (-)NCBI
UMICH_Zoey_3.192,546,349 - 2,553,429 (-)NCBI
UNSW_CanFamBas_1.092,671,411 - 2,678,888 (-)NCBI
UU_Cfam_GSD_1.092,752,722 - 2,760,208 (-)NCBI
Enpp7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056022,553,048 - 2,557,497 (-)NCBI
SpeTri2.0NW_0049365943,855,071 - 3,864,034 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENPP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl122,612,574 - 2,619,519 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1122,612,543 - 2,619,541 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2122,680,088 - 2,687,063 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENPP7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11671,693,148 - 71,701,517 (+)NCBI
ChlSab1.1 Ensembl1671,693,851 - 71,699,926 (+)Ensembl
Vero_WHO_p1.0NW_02366607742,988,775 - 43,000,398 (+)NCBI
Enpp7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248018,895,138 - 8,901,848 (+)NCBI

Position Markers
RH104297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371777,715,747 - 77,715,867UniSTSGRCh37
Build 361775,330,342 - 75,330,462RGDNCBI36
Celera1774,340,830 - 74,340,950RGD
Cytogenetic Map17q25.3UniSTS
HuRef1773,156,577 - 73,156,697UniSTS
GeneMap99-GB4 RH Map17521.47UniSTS
SHGC-154261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371777,707,043 - 77,707,313UniSTSGRCh37
Build 361775,321,638 - 75,321,908RGDNCBI36
Celera1774,332,011 - 74,332,281RGD
Cytogenetic Map17q25.3UniSTS
HuRef1773,147,874 - 73,148,144UniSTS
TNG Radiation Hybrid Map1735758.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1143
Count of miRNA genes:667
Interacting mature miRNAs:758
Transcripts:ENST00000328313, ENST00000576512
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 20 65 65 13 65 13
Low 99 7 366 362 252 362 8 3 5 187 13 17 2 8
Below cutoff 944 1277 599 109 1013 11 1507 639 1580 83 688 783 100 592 1022

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328313   ⟹   ENSP00000332656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1779,730,943 - 79,742,219 (+)Ensembl
RefSeq Acc Id: ENST00000576512   ⟹   ENSP00000460429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1779,735,541 - 79,739,568 (+)Ensembl
RefSeq Acc Id: NM_178543   ⟹   NP_848638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381779,730,943 - 79,742,219 (+)NCBI
GRCh371777,704,882 - 77,716,021 (+)RGD
Build 361775,319,477 - 75,330,616 (+)NCBI Archive
Celera1774,329,818 - 74,341,104 (+)RGD
HuRef1773,145,736 - 73,156,851 (+)NCBI
CHM1_11777,791,135 - 77,802,246 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524737   ⟹   XP_011523039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381779,730,919 - 79,742,926 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752505
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381779,730,919 - 79,742,926 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_848638   ⟸   NM_178543
- Peptide Label: precursor
- UniProtKB: Q6UWV6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523039   ⟸   XM_011524737
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000460429   ⟸   ENST00000576512
RefSeq Acc Id: ENSP00000332656   ⟸   ENST00000328313

Promoters
RGD ID:7236543
Promoter ID:EPDNEW_H24017
Type:initiation region
Name:ENPP7_1
Description:ectonucleotide pyrophosphatase/phosphodiesterase 7
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
GRCh381779,731,124 - 79,731,184EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_178543.5(ENPP7):c.68C>T (p.Pro23Leu) single nucleotide variant Malignant tumor of prostate [RCV000149374] Chr17:79731207 [GRCh38]
Chr17:77704969 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1 copy number loss See cases [RCV000135703] Chr17:78225356..80099979 [GRCh38]
Chr17:76221437..78073778 [GRCh37]
Chr17:73733032..75688373 [NCBI36]
Chr17:17q25.3
likely pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3 copy number gain See cases [RCV000448916] Chr17:77679924..78559726 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:77067571-77979203)x3 copy number gain not provided [RCV000847213] Chr17:77067571..77979203 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23764 AgrOrtholog
COSMIC ENPP7 COSMIC
Ensembl Genes ENSG00000182156 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000332656 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000460429 UniProtKB/TrEMBL
Ensembl Transcript ENST00000328313 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000576512 UniProtKB/TrEMBL
Gene3D-CATH 3.40.720.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182156 GTEx
HGNC ID HGNC:23764 ENTREZGENE
Human Proteome Map ENPP7 Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENPP7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphodiest/P_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:339221 UniProtKB/Swiss-Prot
NCBI Gene 339221 ENTREZGENE
OMIM 616997 OMIM
PANTHER PTHR10151:SF63 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Phosphodiest UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134986550 PharmGKB
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ENPP7_HUMAN UniProtKB/Swiss-Prot
  I3L3G5_HUMAN UniProtKB/TrEMBL
  Q6UWV6 ENTREZGENE
UniProt Secondary Q6ZTS5 UniProtKB/Swiss-Prot
  Q8IUS8 UniProtKB/Swiss-Prot