Enpp7 MGI Mouse Gene Detail - MGI:3027917 - ectonucleotide pyrophosphatase/phosphodiesterase 7

Symbol

Enpp7
Name

ectonucleotide pyrophosphatase/phosphodiesterase 7
Synonyms

Alk-SMase, LOC238011

Feature Type

protein coding gene
IDs

MGI:3027917
NCBI Gene: 238011
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr11:118879014-118884047 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 83.33 cM
Mapping Data

1 experiment

SNPs within 2kb

248 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3027917	protein coding gene	Chr11:118879007-118884047 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019471	protein coding gene	Chr11:123329283-123333920 (+)
A/J	MGP_AJ_G0019439	protein coding gene	Chr11:117882465-117887118 (+)
AKR/J	MGP_AKRJ_G0019409	protein coding gene	Chr11:121440572-121445209 (+)
BALB/cJ	MGP_BALBcJ_G0019414	protein coding gene	Chr11:118243131-118247776 (+)
C3H/HeJ	MGP_C3HHeJ_G0019220	protein coding gene	Chr11:121754202-121758847 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019863	protein coding gene	Chr11:127097997-127102638 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017488	protein coding gene	Chr11:114879866-114884443 (+)
CAST/EiJ	MGP_CASTEiJ_G0018774	protein coding gene	Chr11:123192563-123229922 (+)
CBA/J	MGP_CBAJ_G0019191	protein coding gene	Chr11:132030882-132035527 (+)
DBA/2J	MGP_DBA2J_G0019303	protein coding gene	Chr11:117260588-117265233 (+)
FVB/NJ	MGP_FVBNJ_G0019295	protein coding gene	Chr11:116917319-116921954 (+)
LP/J	MGP_LPJ_G0019373	protein coding gene	Chr11:123652449-123657094 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019328	protein coding gene	Chr11:130999379-131004116 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019902	protein coding gene	Chr11:122110643-122115286 (+)
PWK/PhJ	MGP_PWKPhJ_G0018540	protein coding gene	Chr11:118573499-118683659 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018332	protein coding gene	Chr11:121853018-121880855 (+)
WSB/EiJ	MGP_WSBEiJ_G0018826	protein coding gene	Chr11:122072390-122077045 (+)

Human Ortholog

ENPP7, ectonucleotide pyrophosphatase/phosphodiesterase 7

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ENPP7, ectonucleotide pyrophosphatase/phosphodiesterase 7
Synonyms

ALK-SMase, E-NPP 7, NPP-7, NPP7
Links

HGNC:23764

NCBI Gene ID: 339221

neXtProt AC: NX_Q6UWV6

UniProt: Q6UWV6
Chr Location

17q25.3; chr17:79730943-79742219 (+) GRCh38

MGI Vertebrate Homology

Enpp7 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ENPP7
Gene Tree

Enpp7

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
6 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

3
Endonuclease-mediated

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit intestinal epithelium hypertrophy, decreased crypt and villi width, and impaired sphingomyelin digestion.

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All GO Annotations

25
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase enpp7

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All Sequences

34
RefSeq

3
UniProt

3
CCDS

CCDS25707.1, CCDS88293.1

Ensembl

ENSMUSG00000046697 (Evidence)
NCBI Gene

238011

			Length	Strain/Species	Flank
genomic	ENSMUSG00000046697	Ensembl Gene Model \| MGI Sequence Detail	5034	C57BL/6J	± kb
transcript	ENSMUST00000092373	Ensembl \| MGI Sequence Detail	1370	Not Applicable
polypeptide	ENSMUSP00000090027	Ensembl \| MGI Sequence Detail	446	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000007091 ectonucleotide pyrophosphatase/phosphodiesterase family member 7

(term hierarchy)
EC

3.1.4.12
InterPro Domains

IPR017850 Alkaline-phosphatase-like, core domain superfamily

IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
GlyGen

Q3TIW9 5 sites

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All nucleic 3

cDNA 3

Microarray probesets 1

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MGI:2685100

Summaries

All 26

Gene Ontology 8

Phenotypes 6
Earliest

J:85836 Duan RD, et al., Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family. J Biol Chem. 2003 Oct 3;278(40):38528-36
Latest

J:266041 Zhang P, et al., Deficiency of alkaline SMase enhances dextran sulfate sodium-induced colitis in mice with upregulation of autotaxin. J Lipid Res. 2018 Oct;59(10):1841-1850

TSS for Enpp7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106158	Chr11:118878999-118879018 (+)	-5 bp
Tssr3752	Chr11:118883763-118883776 (+)	4,756 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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