AutismKB 2.0

Annotation Details for P4HA3


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Basic Information Top
Gene Symbol:P4HA3 ( - )
Gene Full Name: prolyl 4-hydroxylase, alpha polypeptide III
Band: 11q13.4
Quick LinksEntrez ID:283208; OMIM: 608987; Uniprot ID:P4HA3_HUMAN; ENSEMBL ID: ENSG00000149380; HGNC ID: 30135
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005788TAS-endoplasmic reticulum lumen-
GO ID Evidence Qualifier GO_term References
GO:0004656IEA-procollagen-proline 4-dioxygenase activity-
GO:0005506IEA-iron ion binding-
GO:0005515IPI-protein binding25416956
GO:0016702IEA-oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen-
GO:0031418IEA-L-ascorbic acid binding-
GO ID Evidence Qualifier GO_term References
GO:0019511IEA-peptidyl-proline hydroxylation-
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
P4HA3PDIA212224014500733 Affinity Capture-Western
P4HA3PDIA212949514500733 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2444049
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

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


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