This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membra... See more...

Aliases for ALPL Gene

Aliases for ALPL Gene

  • Alkaline Phosphatase, Biomineralization Associated 2 3 5
  • TNSALP 2 3 4
  • Alkaline Phosphatase, Tissue-Nonspecific Isozyme 3 4
  • Alkaline Phosphatase Liver/Bone/Kidney Isozyme 3 4
  • Tissue Non-Specific Alkaline Phosphatase 2 3
  • Alkaline Phosphatase, Liver/Bone/Kidney 2 3
  • EC 3.1.3.1 4 50
  • AP-TNAP 3 4
  • TNALP 2 3
  • TNAP 2 3
  • Liver/Bone/Kidney-Type Alkaline Phosphatase 3
  • Tissue-Nonspecific ALP 3
  • APTNAP 3
  • HOPS 3
  • ALPL 5

External Ids for ALPL Gene

Previous HGNC Symbols for ALPL Gene

  • HOPS

Previous GeneCards Identifiers for ALPL Gene

  • GC01P021405
  • GC01P020871
  • GC01P020981
  • GC01P021305
  • GC01P021581
  • GC01P021708
  • GC01P021835
  • GC01P020079

Summaries for ALPL Gene

Entrez Gene Summary for ALPL Gene

  • This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

GeneCards Summary for ALPL Gene

ALPL (Alkaline Phosphatase, Biomineralization Associated) is a Protein Coding gene. Diseases associated with ALPL include Hypophosphatasia, Childhood and Hypophosphatasia, Infantile. Among its related pathways are AGE/RAGE pathway and Folate biosynthesis. Gene Ontology (GO) annotations related to this gene include phosphatase activity and alkaline phosphatase activity. An important paralog of this gene is ALPG.

UniProtKB/Swiss-Prot Summary for ALPL Gene

  • This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi).

Gene Wiki entry for ALPL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALPL Gene

Genomics for ALPL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALPL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J021508 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.7 1739 4 IKZF1 POLR2A CTCF REST MNT SIN3A MAFF SMAD4 SMC3 RARA ALPL NBPF2P HSALNG0001520-002 HSALNG0001521 RAP1GAP
GH01J021548 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl dbSUPER 281 +40.9 40917 3 YY1 REST MNT FOXA2 RXRA ZBTB33 JUND SMARCA4 HNF4A ZNF664 ALPL HSALNG0001520-001 HSALNG0001520-002 ECE1 LINC02596 RAP1GAP ENSG00000236936 EIF4G3 HSALNG0001521
GH01J021537 Enhancer 1 Ensembl ENCODE 21.1 +28.6 28617 3.2 ZIC2 YY1 CTCF RXRA SMAD4 SAP130 RARA GABPB1 TEAD3 ZBTB33 ALPL LINC02596 RAP1GAP NBPF3 HSALNG0001520-002 HSALNG0001521
GH01J021534 Enhancer 0.9 Ensembl ENCODE 21.5 +25.9 25917 1.4 ZNF654 ZNF600 CTCF REST TRIM22 ZNF341 SIN3A ELF1 SAP130 RAD21 ALPL LINC02596 RAP1GAP NBPF3 HSALNG0001520-002 HSALNG0001521
GH01J021650 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 11.6 +142.5 142492 1.9 ZNF600 ZBTB10 NONO REST BHLHE40 MNT MAX SIN3A ELF1 KLF9 RAP1GAP ALPL piR-38580-004 HSALNG0001524 lnc-USP48-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALPL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALPL

Top Transcription factor binding sites by QIAGEN in the ALPL gene promoter:
  • AML1a
  • En-1
  • FOXI1
  • HFH-3
  • MRF-2
  • NRSF form 1
  • NRSF form 2
  • USF-1
  • USF1
  • ZIC2

Genomic Locations for ALPL Gene

Latest Assembly
chr1:21,508,984-21,578,412
(GRCh38/hg38)
Size:
69,429 bases
Orientation:
Plus strand

Previous Assembly
chr1:21,835,477-21,904,903
(GRCh37/hg19 by Entrez Gene)
Size:
69,427 bases
Orientation:
Plus strand

chr1:21,835,858-21,904,905
(GRCh37/hg19 by Ensembl)
Size:
69,048 bases
Orientation:
Plus strand

Genomic View for ALPL Gene

Genes around ALPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALPL Gene

Proteins for ALPL Gene

  • Protein details for ALPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05186-PPBT_HUMAN
    Recommended name:
    Alkaline phosphatase, tissue-nonspecific isozyme
    Protein Accession:
    P05186
    Secondary Accessions:
    • A1A4E7
    • B2RMP8
    • B7Z387
    • B7Z4Y6
    • O75090
    • Q2TAI7
    • Q59EJ7
    • Q5BKZ5
    • Q5VTG5
    • Q6NZI8
    • Q8WU32
    • Q9UBK0

    Protein attributes for ALPL Gene

    Size:
    524 amino acids
    Molecular mass:
    57305 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAD93051.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALPL Gene

Selected DME Specific Peptides for ALPL Gene

P05186:
  • DRDWYSDNEMP
  • DEKARGTRLDGL
  • VTADHSHVF
  • GGGRKYM
  • LQKLNTNV
  • ETHGGEDVA
  • TATAYLCGVK
  • AHLLHGV
  • EVTSILRWAKD
  • HEAVEMD
  • GDGMGVSTVTA
  • VEGGRID
  • DTLTVVTADHSH
  • TDPSLSEMV
  • MAYAACIG
  • VPEKEKDP
  • FLGDGMGV
  • GLFEPGD
  • NAQVPDS
  • LEMDKFP
  • LYGNGPGY

Post-translational modifications for ALPL Gene

  • N-glycosylated.
  • Glycosylation at Asn140, Asn230, Asn271, Asn303, and Asn430
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

Domains & Families for ALPL Gene

Gene Families for ALPL Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ALPL Gene

Suggested Antigen Peptide Sequences for ALPL Gene

GenScript: Design optimal peptide antigens:
  • Alkaline phosphatase (B7Z387_HUMAN)
  • Alkaline phosphatase (B7Z4Y6_HUMAN)
  • Alkaline phosphatase liver/bone/kidney isozyme (PPBT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05186

UniProtKB/Swiss-Prot:

PPBT_HUMAN :
  • Belongs to the alkaline phosphatase family.
Family:
  • Belongs to the alkaline phosphatase family.
genes like me logo Genes that share domains with ALPL: view

Function for ALPL Gene

Molecular function for ALPL Gene

UniProtKB/Swiss-Prot Function:
This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a phosphate monoester + H2O = an alcohol + phosphate; Xref=Rhea:RHEA:15017, ChEBI:CHEBI:15377, ChEBI:CHEBI:30879, ChEBI:CHEBI:43474, ChEBI:CHEBI:67140; EC=3.1.3.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10042, ECO:0000269|PubMed:23688511, ECO:0000269|PubMed:25982064};.
GENATLAS Biochemistry:
phosphatase alkaline,liver/bone/kidney,non specific

Enzyme Numbers (IUBMB) for ALPL Gene

Phenotypes From GWAS Catalog for ALPL Gene

Gene Ontology (GO) - Molecular Function for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004035 alkaline phosphatase activity IEA,IBA 21873635
GO:0005515 protein binding IPI --
GO:0016462 pyrophosphatase activity IDA 19874193
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ALPL: view
genes like me logo Genes that share phenotypes with ALPL: view

Human Phenotype Ontology for ALPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALPL Gene

MGI Knock Outs for ALPL:

miRNA for ALPL Gene

miRTarBase miRNAs that target ALPL

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALPL

Clone products for research

No data available for Transcription Factor Targets and HOMER Transcription for ALPL Gene

Localization for ALPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALPL Gene

Cell membrane. Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALPL gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,HDA 16210410
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with ALPL: view

Pathways & Interactions for ALPL Gene

genes like me logo Genes that share pathways with ALPL: view

Pathways by source for ALPL Gene

SIGNOR curated interactions for ALPL Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9781036
GO:0001649 osteoblast differentiation HDA 16210410
GO:0001958 endochondral ossification IEA --
GO:0003006 developmental process involved in reproduction IEA --
GO:0016311 dephosphorylation IEA,IBA 21873635
genes like me logo Genes that share ontologies with ALPL: view

Drugs & Compounds for ALPL Gene

(26) Drugs for ALPL Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amifostine Approved, Investigational Pharma Enzyme, substrate 82
Pyridoxine Approved, Investigational, Vet_approved Nutra Enzyme, Transporter, substrate 243,243
Fospropofol Approved, Illicit, Investigational Pharma Enzyme, substrate 21
Strontium chloride Sr-89 Approved, Investigational Pharma Enzyme, cofactor 0
Sodium fluorophosphate Approved Pharma Pyruvate/alkaline phosphatase inhibitor 0

(11) Additional Compounds for ALPL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
dihydroneopterin triphosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphate
  • 6-(L-Erythro-1,2-dihydroxy-3-triphosphooxypropyl)-7,8-dihydropterin
  • 6-(L-Erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphoric acid
20574-65-6
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl-1-propanol
  • 2-Methylpropanol
  • I-butanol
  • I-butyl alcohol
78-83-1

(2) ApexBio Compounds for ALPL Gene

Compound Action Cas Number
(-)-p-Bromotetramisole Oxalate 62284-79-1
Sodium Monofluorophosphate Pyruvate/alkaline phosphatase inhibitor 10163-15-2
genes like me logo Genes that share compounds with ALPL: view

Drug products for research

Transcripts for ALPL Gene

mRNA/cDNA for ALPL Gene

6 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALPL

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ALPL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c
SP1: - - - -
SP2: - - -
SP3:
SP4: -
SP5:

Relevant External Links for ALPL Gene

GeneLoc Exon Structure for
ALPL

Expression for ALPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALPL Gene

This gene is overexpressed in Whole Blood (x36.4).

Protein differential expression in normal tissues from HIPED for ALPL Gene

This gene is overexpressed in Nasal epithelium (28.9), Cerebral cortex (8.7), and Adrenal (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALPL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALPL

SOURCE GeneReport for Unigene cluster for ALPL Gene:

Hs.75431

Evidence on tissue expression from TISSUES for ALPL Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Kidney(3.2)
  • Bone(2.7)
  • Bone marrow(2.6)
  • Blood(2.5)
  • Intestine(2.5)
  • Heart(2.3)
  • Spleen(2.2)
  • Lung(2.2)
  • Muscle(2.1)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALPL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ALPL: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ALPL Gene

Orthologs for ALPL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALPL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ALPL 29 30
  • 94.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALP 30
  • 90 (a)
OneToOne
ALPL 29
  • 89.55 (n)
Cow
(Bos Taurus)
Mammalia ALPL 29 30
  • 89.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Alpl 29
  • 86.2 (n)
Mouse
(Mus musculus)
Mammalia Alpl 29 16 30
  • 85.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ALPL 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ALPL 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ALPL 29 30
  • 73.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALPL 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485467 29
  • 71.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii alpl 30
  • 68 (a)
OneToOne
alp3 29
  • 60.04 (n)
zgc56672 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001684 29
  • 54.2 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8147 29 30
  • 53.42 (n)
ManyToMany
CG1809 30 31
  • 37 (a)
ManyToMany
CG10592 30 31
  • 36 (a)
ManyToMany
CG10827 30 31
  • 36 (a)
ManyToMany
CG5656 30 31
  • 35 (a)
ManyToMany
CG8105 30 31
  • 35 (a)
ManyToMany
CG5150 30 31
  • 35 (a)
ManyToMany
CG3264 30 31
  • 35 (a)
ManyToMany
CG3290 30 31
  • 34 (a)
ManyToMany
Aph-4 30 31
  • 32 (a)
ManyToMany
CG3292 30 31
  • 31 (a)
ManyToMany
CG16771 30 31
  • 30 (a)
ManyToMany
CG5361 30
  • 21 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO8 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 42 (a)
ManyToMany
-- 30
  • 41 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
CSA.180 30
  • 39 (a)
ManyToMany
CSA.4362 30
  • 38 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1365 29
Species where no ortholog for ALPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ALPL Gene

ENSEMBL:
Gene Tree for ALPL (if available)
TreeFam:
Gene Tree for ALPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALPL: view image
Alliance of Genome Resources:
Additional Orthologs for ALPL

Paralogs for ALPL Gene

Paralogs for ALPL Gene

(3) SIMAP similar genes for ALPL Gene using alignment to 3 proteins:

  • PPBT_HUMAN
  • B1ANL0_HUMAN
  • G8I0M6_HUMAN
genes like me logo Genes that share paralogs with ALPL: view

Variants for ALPL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALPL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1002506 Uncertain Significance: not provided 21,573,704(+) G/A
NM_000478.6(ALPL):c.902G>A (p.Arg301Lys)
MISSENSE
1003680 Uncertain Significance: not provided 21,575,757(+) A/G
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)
MISSENSE
1003872 Uncertain Significance: not provided 21,577,488(+) A/G
NM_000478.6(ALPL):c.1415A>G (p.His472Arg)
MISSENSE
1009296 Uncertain Significance: not provided 21,568,200(+) G/A
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser)
MISSENSE
1020192 Uncertain Significance: not provided 21,576,560(+) T/C
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ALPL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ALPL Gene

Variant ID Type Subtype PubMed ID
dgv24e212 CNV loss 25503493
esv1457635 CNV insertion 17803354
esv2672081 CNV deletion 23128226
esv2745075 CNV deletion 23290073
esv2758926 CNV gain+loss 17122850
esv34155 CNV loss 18971310
esv3585450 CNV loss 21293372
nsv428432 CNV gain 18775914
nsv460740 CNV loss 19166990
nsv477018 CNV novel sequence insertion 20440878
nsv508359 CNV deletion 20534489
nsv509002 CNV insertion 20534489
nsv517096 CNV loss 19592680
nsv545736 CNV loss 21841781
nsv834391 CNV loss 17160897
nsv998678 CNV gain 25217958

Variation tolerance for ALPL Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.82; 83.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALPL Gene

Human Gene Mutation Database (HGMD)
ALPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALPL
Leiden Open Variation Database (LOVD)
ALPL

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALPL Gene

Disorders for ALPL Gene

MalaCards: The human disease database

(36) MalaCards diseases for ALPL Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypophosphatasia, childhood
  • childhood hypophosphatasia
hypophosphatasia, infantile
  • hops
hypophosphatasia, adult
  • hypophosphatasia, mild
hypophosphatasia
  • childhood hypophosphatasia
prenatal benign hypophosphatasia
  • prenatal benign rathbun disease
- elite association - COSMIC cancer census association via MalaCards
Search ALPL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPBT_HUMAN
  • Hypophosphatasia (HOPS) [MIM:146300]: A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia). {ECO:0000269 PubMed:10094560, ECO:0000269 PubMed:10332035, ECO:0000269 PubMed:10679946, ECO:0000269 PubMed:10690885, ECO:0000269 PubMed:10834525, ECO:0000269 PubMed:11438998, ECO:0000269 PubMed:11479741, ECO:0000269 PubMed:11745997, ECO:0000269 PubMed:11760847, ECO:0000269 PubMed:11834095, ECO:0000269 PubMed:11855933, ECO:0000269 PubMed:11999978, ECO:0000269 PubMed:12815606, ECO:0000269 PubMed:12920074, ECO:0000269 PubMed:1409720, ECO:0000269 PubMed:15135428, ECO:0000269 PubMed:15694177, ECO:0000269 PubMed:19500388, ECO:0000269 PubMed:22266140, ECO:0000269 PubMed:23039266, ECO:0000269 PubMed:23688511, ECO:0000269 PubMed:25982064, ECO:0000269 PubMed:3174660, ECO:0000269 PubMed:7833929, ECO:0000269 PubMed:8406453, ECO:0000269 PubMed:8954059, ECO:0000269 PubMed:9452105, ECO:0000269 PubMed:9747027, ECO:0000269 PubMed:9781036}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hypophosphatasia childhood type (HOPSC) [MIM:241510]: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. {ECO:0000269 PubMed:11760847}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hypophosphatasia infantile type (HOPSI) [MIM:241500]: A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies. {ECO:0000269 PubMed:10834525, ECO:0000269 PubMed:11438998, ECO:0000269 PubMed:7833929, ECO:0000269 PubMed:8954059}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ALPL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ALPL: view

No data available for Genatlas for ALPL Gene

Publications for ALPL Gene

  1. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. (PMID: 19500388) Fauvert D … Mornet E (BMC medical genetics 2009) 3 4 40 72
  2. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. (PMID: 10834525) Mochizuki H … Ozono K (European journal of pediatrics 2000) 3 4 22 40
  3. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. (PMID: 1409720) Henthorn PS … Whyte MP (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 72
  4. Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population. (PMID: 19931660) Ermakov S … Nürnberg P (Bone 2010) 3 22 40
  5. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (PMID: 19303062) Tanaka T … Ferrucci L (American journal of human genetics 2009) 3 22 40

Products for ALPL Gene

Sources for ALPL Gene