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Alpl Gene Detail
Summary
  • Symbol
    Alpl
  • Name
    alkaline phosphatase, liver/bone/kidney
  • Synonyms
    Akp-2, Akp2, ALP, TNAP, TNSALP
  • Feature Type
    protein coding gene
  • IDs
    MGI:87983
    NCBI Gene: 11647
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:137469044-137523695 bp, - strand
    From Ensembl annotation of GRCm39
  • 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
    1620 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
Homology
more
  • Human Ortholog
    ALPL, alkaline phosphatase, biomineralization associated
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALPL, alkaline phosphatase, biomineralization associated
  • Synonyms
    AP-TNAP, APTNAP, HOPS, HPPA, HPPC, HPPI, HPPO, TNALP, TNAP, TNS-ALP, TNSALP
  • Links
    NCBI Gene ID: 249
    neXtProt AC: NX_P05186
    UniProt: P05186

  • Chr Location
    1p36.12; chr1:21508984-21578410 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Alpl mouse models; 4 with human ALPL associations

Human Disease Mouse Models
      
IDs
 View 9 models
IDs
 View 1 model
IDs
 View 3 models
      
IDs
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
    77 phenotypes from multigenic genotypes
    151 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.
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
    68
  • GO References
    29
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
    1077
  • Tissues
    180
  • cDNA Data
    144
  • Literature Summary
    74
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 181
      Genomic 13
      cDNA 145
      Primer pair 17
      Other 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1249, MGD-MRK-1254
    References
    more
    • Summaries
      All 328
      Developmental Gene Expression 74
      Diseases 6
      Gene Ontology 29
      Phenotypes 151
    • Earliest
      J:4470 Wilcox FH, et al., Genetic variation in alkaline phosphatase isozymes in liver of the house mouse. Genetics. 1976;83:s82 (Abstr.)
    • Latest
      J:359218 Soria-Tobar L, et al., Blockade of brain alkaline phosphatase efficiently reduces amyloid-beta plaque burden and associated cognitive impairment. Alzheimers Res Ther. 2024 Oct 22;16(1):233
    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
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory