About   Help   FAQ
Alpl
Gene Detail
Symbol

Name
ID
Alpl
alkaline phosphatase, liver/bone/kidney
MGI:87983
Synonyms
Akp2, Akp-2, TNAP, TNSALP
Feature Type
protein coding gene
Genetic Map
Chromosome 4
70.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(46)
Sequence Map
Chr4:137741733-137796384 bp, - strand
From VEGA annotation of GRCm38

  54652 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37314  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ALPL
Protein SuperFamily: alkaline phosphatase
Gene Tree: Alpl

Human
homologs
ALPL, alkaline phosphatase, liver/bone/kidney
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 249
neXtProt AC: NX_P05186

Human Synonyms: APTNAP, AP-TNAP, HOPS, TNAP, TNSALP

Human Chr (Location): 1p36.12; chr1:21508982-21578412 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human ALPL

Mutations,
alleles, and
phenotypes
All mutations/alleles(410) : Chemically induced (ENU)(8) Gene trapped(395) Targeted(7)
Genomic Mutations involving Alpl (1)
Incidental mutations (data from 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.
 
Human Diseases Modeled in Mice Using Alpl (3)    Mutations Annotated to Human Diseases (8)   
Interactions
Alpl interacts with 120 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (37 records)
Data Summary: Results (270)    Tissues (137)    Images (33)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 218
RT-PCR 52
cDNA source data(144)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ALPL ; Xenbase LOC100485467 ; ZFIN alpl    NEW 
Molecular
reagents
All nucleic(167) Genomic(12) cDNA(145) Primer pair(6) Other(4)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000009805 (Evidence)
Ensembl Gene Model ENSMUSG00000028766 (Evidence)
Entrez Gene 11647 (Evidence)
UniGene 288186
DFCI TC1574718, TC1622456
DoTS DT.101391029, DT.110806791, DT.94345273, DT.94407342
NIA Mouse Gene Index U025683
EC 3.1.3.1
Consensus CDS Project CCDS18821.1
International Mouse Phenotyping Consortium Status Alpl
Sequences
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 sequences
All sequences(74) RefSeq(14) UniProt(8)
Polymorphisms
RFLP(5) : SNPs within 2kb(724 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001952 Alkaline phosphatase
InterPro IPR018299 Alkaline phosphatase, active site
InterPro IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
InterPro IPR017850 Alkaline-phosphatase-like, core domain
Protein Ontology PR:000003968 alkaline phosphatase, tissue-nonspecific isozyme
References
(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:218607 Gasque KC, et al., Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase. Bone. 2015 Mar;72:137-47
All references(194)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-1249, MGD-MRK-1254

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory