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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
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, liver/bone/kidney
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ALPL, alkaline phosphatase, liver/bone/kidney
    Orthology source: HomoloGene, HGNC
  • Synonyms
    APTNAP, AP-TNAP, HOPS, TNAP, TNSALP
  • Links
    NCBI Gene ID: 249
    neXtProt AC: NX_P05186

  • Chr Location
    1p36.12; chr1:21508982-21578412 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    3 with Alpl mouse models; 3 with human ALPL associations

Human Disease Mouse Models
       Hypophosphatasia, Adult   OMIM: 146300 View 8 models
Hypophosphatasia, Childhood   OMIM: 241510 View 1 model
Hypophosphatasia, Infantile   OMIM: 241500 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 10 alleles in 12 genetic backgrounds
    48 phenotypes from multigenic genotypes
    98 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.
  • All Mutations and Alleles
    411
  • Chemically induced (ENU)
    8
  • Chemically induced (other)
    2
  • Gene trapped
    394
  • Targeted
    7
  • Genomic Mutations
    3 involving Alpl
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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
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  • All GO Annotations
    26
  • GO References
    14
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
    41
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
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000003968 alkaline phosphatase, tissue-nonspecific isozyme
  • EC
    3.1.3.1
  • InterPro Domains
    IPR001952 Alkaline phosphatase
    IPR018299 Alkaline phosphatase, active site
    IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
    IPR017850 Alkaline-phosphatase-like, core domain
Molecular
Reagents
less
  • All nucleic 167
    Genomic 12
    cDNA 145
    Primer pair 6
    Other 4

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1249, MGD-MRK-1254
References
more
  • Summaries
    All 211
    Developmental Gene Expression 41
    Diseases 7
    Gene Ontology 14
    Phenotypes 98
  • 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:232725 Liu YJ, et al., Degradation of the Separase-cleaved Rec8, a Meiotic Cohesin Subunit, by the N-end Rule Pathway. J Biol Chem. 2016 Apr 1;291(14):7426-38
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory