About   Help   FAQ
Enpp6 Gene Detail
Summary
  • Symbol
    Enpp6
  • Name
    ectonucleotide pyrophosphatase/phosphodiesterase 6
  • Synonyms
    4833421B01Rik, B830047L21Rik, D8Ertd514e, Npp6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2445171
    NCBI Gene: 320981
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:47439922-47549797 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 26.48 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3801 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2445171
 protein coding gene Chr8:47439920-47549797 (+)
129S1/SvImJ ENSMUSG00200005433
 protein coding gene Chr8:42554700-42655567 (+)
A/J ENSMUSG00195003780
 protein coding gene Chr8:43044427-43154522 (+)
AKR/J ENSMUSG00220004289
 protein coding gene Chr8:42861157-42971299 (+)
BALB/cJ ENSMUSG00180002719
 protein coding gene Chr8:42585434-42695505 (+)
C3H/HeJ ENSMUSG00175004988
 protein coding gene Chr8:42713730-42823807 (+)
C57BL/6NJ ENSMUSG00215009602
 protein coding gene Chr8:42516481-42626569 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031037
 protein coding gene Chr8:40585329-40687457 (+)
CAST/EiJ ENSTCUG00005018878
 protein coding gene Chr8:42553226-42662461 (+)
CBA/J ENSMUSG00210018946
 protein coding gene Chr8:42612342-42717383 (+)
DBA/2J ENSMUSG00185005935
 protein coding gene Chr8:48456163-48566116 (+)
FVB/NJ ENSMUSG00205002502
 protein coding gene Chr8:41742018-41846995 (+)
JF1/MsJ ENSUMUG00000010668
 protein coding gene Chr8:50103946-50206920 (+)
LP/J ENSMUSG00230014119
 protein coding gene Chr8:52151216-52256205 (+)
NOD/ShiLtJ ENSMUSG00190005996
 protein coding gene Chr8:42629287-42739380 (+)
NZO/HlLtJ ENSMUSG00225011553
 protein coding gene Chr8:55744971-55851297 (+)
PWK/PhJ ENSLUMG00010009464
 protein coding gene Chr8:42377352-42480472 (+)
SPRET/EiJ ENSMSPG00010005757
 protein coding gene Chr8:43273916-43380871 (+)
WSB/EiJ ENSIUOG00005002525
 protein coding gene Chr8:43464621-43568207 (+)



Homology
more
  • Human Ortholog
    ENPP6, ectonucleotide pyrophosphatase/phosphodiesterase 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ENPP6, ectonucleotide pyrophosphatase/phosphodiesterase 6
  • Synonyms
    NPP6
  • Links
    NCBI Gene ID: 133121
    UniProt: Q6UWR7

  • Chr Location
    4q35.1; chr4:184088706-184221230 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    13 phenotype references
Phenotype Overview

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.
Mice homozygous for a knock-out allele exhibit choline-deficient phenotypes, including fatty liver and hypomyelination, and accumulate beta-glycerophosphocholine in their urine.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    10
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.
Expression
less
Expression Overview

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
    693
  • Tissues
    95
  • cDNA Data
    17
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038173 Ensembl Gene Model | MGI Sequence Detail 109876 C57BL/6J ±  kb
    transcript ENSMUST00000039840 Ensembl | MGI Sequence Detail 4970 Not Applicable  
    polypeptide ENSMUSP00000044608 Ensembl | MGI Sequence Detail 440 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000007090 glycerophosphocholine cholinephosphodiesterase ENPP6
      (term hierarchy)
    • PDB
      5EGE, 5EGH
    • EC
      3.1.4.-, 3.1.4.38
    • InterPro Domains
      IPR017850 Alkaline-phosphatase-like, core domain superfamily
      IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase domain
    • GlyGen
      Q8BGN3 6 sites, 7 N-linked glycans (4 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 17
      Primer pair 3
      Other 1

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGI:1261759, MGI:1921014
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 3
      Gene Ontology 10
      Phenotypes 13
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:389175 Barbosa D, et al., Disruption to TFEB signaling and autophagy in newly formed oligodendrocytes leads to aberrant generation of CNS myelin. Proc Natl Acad Sci U S A. 2026 Jun 16;123(24):e2528668123
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory