AutismKB 2.0

Annotation Details for ALPL


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Basic Information Top
Gene Symbol:ALPL ( AP-TNAP,APTNAP,FLJ40094,FLJ93059,HOPS,MGC161443,MGC167935,TNAP,TNSALP )
Gene Full Name: alkaline phosphatase, liver/bone/kidney
Band: 1p36.12
Quick LinksEntrez ID:249; OMIM: 171760; Uniprot ID:PPBT_HUMAN; ENSEMBL ID: ENSG00000162551; HGNC ID: 438
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0005615IEA-extracellular space-
GO:0005886TAS-plasma membrane-
GO:0016020IDA-membrane16210410
GO:0016021IEA-integral component of membrane-
GO:0031225IEA-anchored component of membrane-
GO:0065010IEA-extracellular membrane-bounded organelle-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0004035IEA-alkaline phosphatase activity-
GO:0005515IPI-protein binding15208311
GO:0016462IDA-pyrophosphatase activity19874193
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0001501TAS-skeletal system development9781036
GO:0001649IDA-osteoblast differentiation16210410
GO:0001958IEA-endochondral ossification-
GO:0003006IEA-developmental process involved in reproduction-
GO:0006501TAS-C-terminal protein lipidation-
GO:0016311IEA-dephosphorylation-
GO:0032496IEA-response to lipopolysaccharide-
GO:0033280IEP-response to vitamin D17023519
GO:0046677IEA-response to antibiotic-
GO:0051384IEA-response to glucocorticoid-
GO:0071407IEA-cellular response to organic cyclic compound-
GO:0071529IEA-cementum mineralization-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:87983
  • Data Attributes: MGI curated and HomoloGene calculated
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018