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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
Location & Maps
more
  • Sequence Map
    Chr4:137741733-137796384 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      54652 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 70.02 cM
  • Mapping Data
    46 experiments
Homology
more
  • Human Ortholog
    ALPL, alkaline phosphatase, biomineralization associated
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ALPL, alkaline phosphatase, biomineralization associated
    Orthology source: HomoloGene, HGNC
  • 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
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  • 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
    53
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000009805 VEGA Gene Model | MGI Sequence Detail 54652 C57BL/6J ±  kb
    transcript OTTMUST00000022726 VEGA | MGI Sequence Detail 2522 Not Applicable  
    polypeptide OTTMUSP00000010372 VEGA | MGI Sequence Detail 524 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      712 from dbSNP Build 142
    • RFLP
      5
    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 53
      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:264402 Welsh IC, et al., Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. J Anat. 2018 Aug;233(2):222-242
    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
    10/09/2018
    MGI 6.12     		The Jackson Laboratory