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Alpl Gene Detail
Summary
  • Symbol
    Alpl
  • Name
    alkaline phosphatase, liver/bone/kidney
  • Synonyms
    Akp2, Akp-2, ALP, TNAP, TNSALP
  • Feature Type
    protein coding gene
  • IDs
    MGI:87983
    NCBI Gene: 11647
  • Gene Overview
    MyGene.info: ALPL
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:137741733-137796384 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 70.02 cM
  • Mapping Data
    46 experiments
Strain
Comparison
more
  • SNPs within 2kb
    712 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87983
 protein coding gene Chr4:137741731-137796384 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028987
 protein coding gene Chr4:140404459-140460196 (-)
A/J MGP_AJ_G0028946
 protein coding gene Chr4:134426343-134482655 (-)
AKR/J MGP_AKRJ_G0028898
 protein coding gene Chr4:138282079-138338394 (-)
BALB/cJ MGP_BALBcJ_G0028970
 protein coding gene Chr4:135115207-135171975 (-)
C3H/HeJ MGP_C3HHeJ_G0028684
 protein coding gene Chr4:138627577-138689450 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029411
 protein coding gene Chr4:145402767-145461277 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026682
 protein coding gene Chr4:127430840-127484570 (-)
CAST/EiJ MGP_CASTEiJ_G0028116
 protein coding gene Chr4:136768530-136832032 (-)
CBA/J MGP_CBAJ_G0028649
 protein coding gene Chr4:149529217-149597499 (-)
DBA/2J MGP_DBA2J_G0028798
 protein coding gene Chr4:134821805-134876669 (-)
FVB/NJ MGP_FVBNJ_G0028765
 protein coding gene Chr4:133820901-133879012 (-)
LP/J MGP_LPJ_G0028897
 protein coding gene Chr4:140493953-140552411 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028791
 protein coding gene Chr4:153529252-153610966 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029449
 protein coding gene Chr4:138760867-138818426 (-)
PWK/PhJ MGP_PWKPhJ_G0027836
 protein coding gene Chr4:131649939-131706567 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027662
 protein coding gene Chr4:134543416-134602754 (-)
WSB/EiJ MGP_WSBEiJ_G0028194
 protein coding gene Chr4:138983624-139042358 (-)



Homology
more
  • Human Ortholog
    ALPL, alkaline phosphatase, biomineralization associated
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ALPL, alkaline phosphatase, biomineralization associated
    Orthology source: HGNC, HomoloGene
  • Synonyms
    APTNAP, AP-TNAP, HOPS, TNALP, TNAP, TNSALP
  • Links
    NCBI Gene ID: 249
    neXtProt AC: NX_P05186
    UniProt: P05186

  • Chr Location
    1p36.12; chr1:21508982-21578412 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    3 with Alpl mouse models; 3 with human ALPL associations

Human Disease Mouse Models
      
IDs
 View 9 models
IDs
 View 1 model
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    49 phenotypes from 11 alleles in 13 genetic backgrounds
    48 phenotypes from multigenic genotypes
    114 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    13
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    270
  • Tissues
    137
  • cDNA Data
    144
  • Literature Summary
    54
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028766 Ensembl Gene Model | MGI Sequence Detail 54652 C57BL/6J ±  kb
    transcript ENSMUST00000030551 Ensembl | MGI Sequence Detail 2522 Not Applicable  
    polypeptide ENSMUSP00000030551 Ensembl | MGI Sequence Detail 524 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 168
      Genomic 13
      cDNA 145
      Primer pair 6
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1249, MGD-MRK-1254
    References
    more
    • Summaries
      All 255
      Developmental Gene Expression 54
      Diseases 6
      Gene Ontology 13
      Phenotypes 114
    • Earliest
      J:4470 Wilcox FH, et al., Genetic variation in alkaline phosphatase isozymes in liver of the house mouse. Genetics. 1976;83:s82
    • Latest
      J:266558 Jin Y, et al., Enpp1 inhibits ectopic joint calcification and maintains articular chondrocytes by repressing hedgehog signaling. Development. 2018 Sep 20;145(18)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/27/2018
    MGI 6.13     		The Jackson Laboratory