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Aliases for ALPL Gene

Aliases for ALPL Gene

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

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, Liver/Bone/Kidney) is a Protein Coding gene. Diseases associated with ALPL include Hypophosphatasia, Childhood and Hypophosphatasia, Infantile. Among its related pathways are Folate biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphatase activity and alkaline phosphatase activity. An important paralog of this gene is ALPI.

UniProtKB/Swiss-Prot for ALPL Gene

  • This isozyme may play a role in skeletal mineralization.

Gene Wiki entry for ALPL Gene

Additional gene information for ALPL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALPL Gene

Genomics for ALPL Gene

GeneHancer (GH) Regulatory Elements for ALPL Gene

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
GH01J021509 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +2.0 1951 3.6 HDAC1 ATF1 RB1 KLF17 SIN3A ZNF48 RAD21 ZNF335 SCRT2 ZNF143 GC01P021509 GC01P021510 ALPL NBPF2P GC01P021551 GC01P021552
GH01J021551 Promoter/Enhancer 1.1 EPDnew dbSUPER 662.3 +42.3 42269 0.1 FOXA2 TAF1 RXRA REST FOXA1 YY1 SP1 JUND HNF4G ZBTB33 ALPL GC01P021551 GC01P021552 LOC105376834 RAP1GAP ENSG00000236936
GH01J021508 Promoter 1 EPDnew 650.7 0.0 -17 0.1 HDAC1 BCOR CTCF USF1 ZNF777 ATF1 KLF17 MCM2 ZNF48 ZNF335 ALPL GC01P021509 GC01P021510 PIR52195
GH01J021650 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.6 +142.5 142462 1.8 HDGF ARNT ZNF2 GLIS2 YY2 REST GMEB1 ZNF184 SMARCA4 KDM1A RAP1GAP ALPL PIR35545
GH01J021550 Enhancer 0.8 FANTOM5 dbSUPER 25.8 +41.4 41357 0.3 ZNF664 MEIS2 PKNOX1 HLF CEBPB REST GC01P021551 GC01P021552 ALPL ECE1 EIF4G3 GC01P021510 GC01P021509
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ALPL Gene

Genomic Locations for ALPL Gene
chr1:21,508,982-21,578,412
(GRCh38/hg38)
Size:
69,431 bases
Orientation:
Plus strand
chr1:21,835,858-21,904,905
(GRCh37/hg19)
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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALPL Gene

Post-translational modifications for ALPL Gene

  • N-glycosylated.
  • Glycosylation at posLast=430430, Asn303, Asn271, posLast=230230, and posLast=140140
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ALPL (Alkaline Phosphatase/ALPL)

No data available for DME Specific Peptides for ALPL Gene

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
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ALPL Gene

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 may play a role in skeletal mineralization.
UniProtKB/Swiss-Prot CatalyticActivity:
A phosphate monoester + H(2)O = an alcohol + phosphate.
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 --
GO:0005515 protein binding IPI 15208311
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:

Animal Model Products

miRNA for ALPL Gene

miRTarBase miRNAs that target ALPL

Clone Products

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
plasma membrane 5
extracellular 5
cytosol 3
peroxisome 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 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:0016021 integral component of membrane 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

SIGNOR curated interactions for ALPL Gene

Is activated 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:0006501 C-terminal protein lipidation TAS --
genes like me logo Genes that share ontologies with ALPL: view

Drugs & Compounds for ALPL Gene

(27) Drugs for ALPL Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amifostine Approved, Investigational Pharma Enzyme 81
Fospropofol Approved, Illicit, Investigational Pharma Enzyme, substrate 21
Mersalyl Approved Pharma Target, antagonist 0
Strontium chloride Sr-89 Approved, Investigational Pharma Enzyme, cofactor 0
Sodium monofluorophosphate Approved Pharma Pyruvate/alkaline phosphatase inhibitor 0

(12) 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
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with ALPL: view

Transcripts for ALPL Gene

Unigene Clusters for ALPL Gene

Alkaline phosphatase, liver/bone/kidney:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
ALPL

Expression for ALPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of ALPL Gene:

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(3.3)
  • Bone(2.5)
  • Intestine(2.5)
  • Blood(2.2)
  • Bone marrow(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

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 34 33
  • 94.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALP 34
  • 90 (a)
OneToOne
ALPL 33
  • 89.55 (n)
cow
(Bos Taurus)
Mammalia ALPL 34 33
  • 89.47 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alpl 33
  • 86.2 (n)
mouse
(Mus musculus)
Mammalia Alpl 16 34 33
  • 85.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ALPL 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALPL 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALPL 34 33
  • 73.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALPL 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485467 33
  • 71.31 (n)
zebrafish
(Danio rerio)
Actinopterygii alpl 34
  • 68 (a)
OneToOne
alp3 33
  • 60.04 (n)
zgc56672 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001684 33
  • 54.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8147 34 33
  • 53.42 (n)
ManyToMany
CG1809 34 35
  • 37 (a)
ManyToMany
CG10592 34 35
  • 36 (a)
ManyToMany
CG10827 34 35
  • 36 (a)
ManyToMany
CG5656 34 35
  • 35 (a)
ManyToMany
CG8105 34 35
  • 35 (a)
ManyToMany
CG5150 34 35
  • 35 (a)
ManyToMany
CG3264 34 35
  • 35 (a)
ManyToMany
CG3290 34 35
  • 34 (a)
ManyToMany
Aph-4 34 35
  • 32 (a)
ManyToMany
CG3292 34 35
  • 31 (a)
ManyToMany
CG16771 34 35
  • 30 (a)
ManyToMany
CG5361 34
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO8 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
CSA.180 34
  • 39 (a)
ManyToMany
CSA.4362 34
  • 38 (a)
ManyToMany
Cin.1365 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1365 33
Species where no ortholog for ALPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

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 from dbSNP and Humsavar for ALPL Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1054159992 infantile type (HOPSI) [MIM:241500] 21,577,448(+) G/A coding_sequence_variant, missense_variant
rs1057516230 likely-pathogenic, pathogenic, Infantile hypophosphatasia, Skeletal dysplasia 21,554,124(+) ACTAACT/ACT coding_sequence_variant, frameshift, genic_upstream_transcript_variant, intron_variant
rs1057516293 likely-pathogenic, Infantile hypophosphatasia 21,560,694(+) C/T 5_prime_UTR_variant, coding_sequence_variant, stop_gained, synonymous_variant
rs1057516334 likely-pathogenic, Infantile hypophosphatasia 21,560,652(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs1057516526 likely-pathogenic, Infantile hypophosphatasia 21,570,349(+) CCCCC/CCCC/CCCCCC coding_sequence_variant, frameshift

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ALPL Gene

MalaCards: The human disease database

(23) MalaCards diseases for ALPL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypophosphatasia, childhood
  • childhood hypophosphatasia
hypophosphatasia, infantile
  • hops
hypophosphatasia, adult
  • hypophosphatasia, mild
hypophosphatasia
  • phosphoethanolaminuria
prenatal benign hypophosphatasia
  • prenatal benign rathburn 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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ALPL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for ALPL Gene

Publications for ALPL Gene

  1. 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 44 58
  2. 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 44 58
  3. 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 44 58
  4. 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 44 58
  5. Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. (PMID: 17043047) Zhang Y … Wordsworth BP (Rheumatology (Oxford, England) 2007) 3 22 44 58

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Sources for ALPL Gene