AutismKB 2.0

Annotation Details for PNKD


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Basic Information Top
Gene Symbol:PNKD ( BRP17,DKFZp564N1362,DYT8,FPD1,KIAA1184,KIPP1184,MGC31943,MR-1,MR1,PDC,TAHCCP2 )
Gene Full Name: paroxysmal nonkinesigenic dyskinesia
Band: 2q35
Quick LinksEntrez ID:25953; OMIM: 609023; Uniprot ID:PNKD_HUMAN; ENSEMBL ID: ENSG00000127838; HGNC ID: 9153
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005739IDA-mitochondrion-
GO:0016020IDA-membrane22214848
GO ID Evidence Qualifier GO_term References
GO:0004416IEA-hydroxyacylglutathione hydrolase activity-
GO:0005515IPI-protein binding25066297
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0019243IEA-methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione-
GO:0032225IEA-regulation of synaptic transmission, dopaminergic-
GO:0042053IEA-regulation of dopamine metabolic process-
GO:0046929IMP-negative regulation of neurotransmitter secretion25730884
GO:0050884IEA-neuromuscular process controlling posture-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PNKDMAGEA1111028416189514 Two-hybrid
PNKDMAGEA1111744616189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1930773
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-050208-278'