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PNKD (PNKD metallo-beta-lactamase domain containing)

Identity

Alias_namesparoxysmal nonkinesiogenic dyskinesia
PNKD, MBL domain containing
Alias_symbol (synonym)DYT8
PDC
DKFZp564N1362
FPD1
MR-1
BRP17
FKSG19
TAHCCP2
KIAA1184
KIPP1184
MGC31943
PKND1
MR-1S
Other aliasMR1
PNKD1
R1
HGNC (Hugo) PNKD
LocusID (NCBI) 25953
Atlas_Id 53200
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 218323179 and ends at 218346793 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KDM4A (1p34.1) / PNKD (2q35)PNKD (2q35) / EPB41L4A (5q22.1)PNKD (2q35) / H19 (11p15.5)
PNKD (2q35) / PAPSS1 (4q25)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;2)(p34;q35) KDM4A/PNKD

External links

Nomenclature
HGNC (Hugo)PNKD   9153
Cards
Entrez_Gene (NCBI)PNKD  25953  PNKD metallo-beta-lactamase domain containing
AliasesBRP17; DYT8; FKSG19; FPD1; 
KIPP1184; MR-1; MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2
GeneCards (Weizmann)PNKD
Ensembl hg19 (Hinxton)ENSG00000127838 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127838 [Gene_View]  ENSG00000127838 [Sequence]  chr2:218323179-218346793 [Contig_View]  PNKD [Vega]
ICGC DataPortalENSG00000127838
TCGA cBioPortalPNKD
AceView (NCBI)PNKD
Genatlas (Paris)PNKD
WikiGenes25953
SOURCE (Princeton)PNKD
Genetics Home Reference (NIH)PNKD
Genomic and cartography
GoldenPath hg38 (UCSC)PNKD  -     chr2:218323179-218346793 +  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNKD  -     2q35   [Description]    (hg19-Feb_2009)
GoldenPathPNKD - 2q35 [CytoView hg19]  PNKD - 2q35 [CytoView hg38]
Genome Data Viewer NCBIPNKD [Mapview hg19]  
OMIM118800   609023   
Gene and transcription
Genbank (Entrez)AB033010 AF318057 AF417001 AF418285 AK289867
RefSeq transcript (Entrez)NM_001077399 NM_015488 NM_022572
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNKD
Alternative Splicing GalleryENSG00000127838
Gene ExpressionPNKD [ NCBI-GEO ]   PNKD [ EBI - ARRAY_EXPRESS ]   PNKD [ SEEK ]   PNKD [ MEM ]
Gene Expression Viewer (FireBrowse)PNKD [ Firebrowse - Broad ]
GenevisibleExpression of PNKD in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25953
GTEX Portal (Tissue expression)PNKD
Human Protein AtlasENSG00000127838-PNKD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N490   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N490  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N490
Splice isoforms : SwissVarQ8N490
Catalytic activity : Enzyme3.-.-.- [ Enzyme-Expasy ]   3.-.-.-3.-.-.- [ IntEnz-EBI ]   3.-.-.- [ BRENDA ]   3.-.-.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ8N490
Domains : Interpro (EBI)Clx_II_MBL    HAGH_C    Hydroxyacylglutathione_Hdrlase    Metallo-B-lactamas    RibonucZ/Hydroxyglut_hydro   
Domain families : Pfam (Sanger)HAGH_C (PF16123)    Lactamase_B (PF00753)   
Domain families : Pfam (NCBI)pfam16123    pfam00753   
Domain families : Smart (EMBL)Lactamase_B (SM00849)  
Conserved Domain (NCBI)PNKD
DMDM Disease mutations25953
SuperfamilyQ8N490
Human Protein Atlas [tissue]ENSG00000127838-PNKD [tissue]
Peptide AtlasQ8N490
HPRD11369
IPIIPI00328714   IPI00001022   IPI00030458   IPI00855925   IPI00432361   IPI00382557   
Protein Interaction databases
DIP (DOE-UCLA)Q8N490
IntAct (EBI)Q8N490
FunCoupENSG00000127838
BioGRIDPNKD
STRING (EMBL)PNKD
ZODIACPNKD
Ontologies - Pathways
QuickGOQ8N490
Ontology : AmiGOhydroxyacylglutathione hydrolase activity  protein binding  nucleus  mitochondrion  membrane  methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione  regulation of synaptic transmission, dopaminergic  regulation of dopamine metabolic process  metal ion binding  negative regulation of neurotransmitter secretion  neuromuscular process controlling posture  
Ontology : EGO-EBIhydroxyacylglutathione hydrolase activity  protein binding  nucleus  mitochondrion  membrane  methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione  regulation of synaptic transmission, dopaminergic  regulation of dopamine metabolic process  metal ion binding  negative regulation of neurotransmitter secretion  neuromuscular process controlling posture  
NDEx NetworkPNKD
Atlas of Cancer Signalling NetworkPNKD
Wikipedia pathwaysPNKD
Orthology - Evolution
OrthoDB25953
GeneTree (enSembl)ENSG00000127838
Phylogenetic Trees/Animal Genes : TreeFamPNKD
HOGENOMQ8N490
Homologs : HomoloGenePNKD
Homology/Alignments : Family Browser (UCSC)PNKD
Gene fusions - Rearrangements
Fusion : MitelmanKDM4A/PNKD [1p34.1/2q35]  
Fusion : QuiverPNKD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNKD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNKD
dbVarPNKD
ClinVarPNKD
1000_GenomesPNKD 
Exome Variant ServerPNKD
GNOMAD BrowserENSG00000127838
Varsome BrowserPNKD
Genetic variants : HAPMAP25953
Genomic Variants (DGV)PNKD [DGVbeta]
DECIPHERPNKD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNKD 
Mutations
ICGC Data PortalPNKD 
TCGA Data PortalPNKD 
Broad Tumor PortalPNKD
OASIS PortalPNKD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNKD  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPNKD
Mutations and Diseases : HGMDPNKD
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutaselect PNKD
DgiDB (Drug Gene Interaction Database)PNKD
DoCM (Curated mutations)PNKD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNKD (select a term)
intoGenPNKD
Cancer3DPNKD (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118800    609023   
Orphanet13827   
DisGeNETPNKD
MedgenPNKD
Genetic Testing Registry PNKD
NextProtQ8N490 [Medical]
TSGene25953
GENETestsPNKD
Open Targets GeneticsENSG00000127838  [validation]
snp3D : Map Gene to Disease25953
BioCentury BCIQPNKD
ClinGenPNKD
Clinical trials, drugs, therapy
Protein Interactions : CTD25953
Pharm GKB GenePA33476
Clinical trialPNKD
Miscellaneous
canSAR (ICR)PNKD (select the gene name)
HarmonizomePNKD
DataMed IndexPNKD
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNKD
EVEXPNKD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:05:45 CEST 2020
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