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Aliases for PNKD Gene

Aliases for PNKD Gene

  • Paroxysmal Nonkinesigenic Dyskinesia 2 3 5
  • Myofibrillogenesis Regulator 1 2 3 4
  • Trans-Activated By Hepatitis C Virus Core Protein 2 3 4
  • TAHCCP2 3 4
  • MR-1 3 4
  • MR1 3 4
  • Paroxysmal Nonkinesiogenic Dyskinesia Protein 4
  • Paroxysmal Nonkinesiogenic Dyskinesia 2
  • Probable Hydrolase PNKD 3
  • Brain Protein 17 3
  • EC 3.-.-.- 4
  • KIPP1184 3
  • KIAA1184 4
  • FKSG19 3
  • BRP17 3
  • PKND1 3
  • PNKD1 3
  • DYT8 3
  • FPD1 3
  • PDC 3

External Ids for PNKD Gene

Previous GeneCards Identifiers for PNKD Gene

  • GC02U990078
  • GC02P218843
  • GC02P219135
  • GC02P210988

Summaries for PNKD Gene

Entrez Gene Summary for PNKD Gene

  • This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for PNKD Gene

PNKD (Paroxysmal Nonkinesigenic Dyskinesia) is a Protein Coding gene. Diseases associated with PNKD include Familial Paroxysmal Nonkinesigenic Dyskinesia and Paroxysmal Nonkinesigenic Dyskinesia 1. Gene Ontology (GO) annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is HAGH.

UniProtKB/Swiss-Prot for PNKD Gene

  • Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.

Gene Wiki entry for PNKD Gene

Additional gene information for PNKD Gene

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

Genomics for PNKD Gene

GeneHancer (GH) Regulatory Elements for PNKD Gene

Promoters and enhancers for PNKD 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
GH02I218321 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 581.3 +53.0 52989 3 PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 KLF13 PNKD LOC105373881 ENSG00000261338 SLC11A1 GPBAR1 ARPC2 TMBIM1 CYP27A1 TTLL4 MIR6810
GH02I218269 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556 +2.2 2248 7.1 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 AAMP PNKD ENSG00000261338 USP37 NHEJ1 ARPC2 CNOT9 TMBIM1 MIR6513
GH02I218314 Enhancer 1.2 Ensembl ENCODE dbSUPER 28.3 +46.3 46328 4 HDGF ELF3 ATF1 FOXA2 NFRKB DNMT3B RARA ZNF366 FOS CREM LOC105373880 ENSG00000261338 PNKD TMBIM1 GPBAR1 ARPC2 LOC105373881
GH02I218393 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 +130.6 130615 14.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 MIR26B ENSG00000273361 GC02P218403 CTDSP1 CNOT9 AAMP USP37 STK36 ANKZF1 BCS1L
GH02I218216 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.1 -49.8 -49807 9 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 ARPC2 ENSG00000261338 GPBAR1 AAMP PNKD CXCR2P1 GC02M218215 LOC101928487 TRY-ATA1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PNKD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNKD gene promoter:

Genomic Locations for PNKD Gene

Genomic Locations for PNKD Gene
chr2:218,270,392-218,346,793
(GRCh38/hg38)
Size:
76,402 bases
Orientation:
Plus strand
chr2:219,135,115-219,211,516
(GRCh37/hg19)

Genomic View for PNKD Gene

Genes around PNKD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNKD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNKD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNKD Gene

Proteins for PNKD Gene

  • Protein details for PNKD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N490-PNKD_HUMAN
    Recommended name:
    Probable hydrolase PNKD
    Protein Accession:
    Q8N490
    Secondary Accessions:
    • A8K1F2
    • Q96A48
    • Q9BU26
    • Q9NSX4
    • Q9ULN6
    • Q9Y4T1

    Protein attributes for PNKD Gene

    Size:
    385 amino acids
    Molecular mass:
    42876 Da
    Quaternary structure:
    • Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3.

    Alternative splice isoforms for PNKD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNKD Gene

Post-translational modifications for PNKD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNKD Gene

No data available for DME Specific Peptides for PNKD Gene

Domains & Families for PNKD Gene

Gene Families for PNKD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for PNKD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N490

UniProtKB/Swiss-Prot:

PNKD_HUMAN :
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with PNKD: view

Function for PNKD Gene

Molecular function for PNKD Gene

UniProtKB/Swiss-Prot Function:
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
UniProtKB/Swiss-Prot Induction:
By Hepatitis C virus core protein.

Enzyme Numbers (IUBMB) for PNKD Gene

Phenotypes From GWAS Catalog for PNKD Gene

Gene Ontology (GO) - Molecular Function for PNKD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004416 hydroxyacylglutathione hydrolase activity IEA --
GO:0005515 protein binding IPI 25066297
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PNKD: view
genes like me logo Genes that share phenotypes with PNKD: view

Human Phenotype Ontology for PNKD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNKD Gene

MGI Knock Outs for PNKD:

Animal Model Products

  • Taconic Biosciences Mouse Models for PNKD

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PNKD Gene

Localization for PNKD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNKD Gene

Isoform 1: Membrane; Peripheral membrane protein.
Isoform 2: Cytoplasm. Nucleus.
Isoform 3: Mitochondrion.

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 PNKD gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PNKD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA --
GO:0016020 membrane IDA 22214848
genes like me logo Genes that share ontologies with PNKD: view

Pathways & Interactions for PNKD Gene

No Data Available

Gene Ontology (GO) - Biological Process for PNKD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA --
GO:0032225 regulation of synaptic transmission, dopaminergic IEA --
GO:0042053 regulation of dopamine metabolic process IEA --
GO:0046929 negative regulation of neurotransmitter secretion IMP 25730884
GO:0050884 neuromuscular process controlling posture IEA --
genes like me logo Genes that share ontologies with PNKD: view

No data available for Pathways by source and SIGNOR curated interactions for PNKD Gene

Drugs & Compounds for PNKD Gene

(3) Drugs for PNKD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PNKD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PNKD: view

Transcripts for PNKD Gene

Unigene Clusters for PNKD Gene

Paroxysmal nonkinesigenic dyskinesia:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNKD Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2:
SP3:
SP4: -

Relevant External Links for PNKD Gene

GeneLoc Exon Structure for
PNKD
ECgene alternative splicing isoforms for
PNKD

Expression for PNKD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNKD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNKD Gene

This gene is overexpressed in Liver (x5.2).

Protein differential expression in normal tissues from HIPED for PNKD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.3) and Bone (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PNKD Gene



Protein tissue co-expression partners for PNKD Gene

NURSA nuclear receptor signaling pathways regulating expression of PNKD Gene:

PNKD

SOURCE GeneReport for Unigene cluster for PNKD Gene:

Hs.98475

mRNA Expression by UniProt/SwissProt for PNKD Gene:

Q8N490-PNKD_HUMAN
Tissue specificity: Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only.

Evidence on tissue expression from TISSUES for PNKD Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Muscle(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNKD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • face
  • head
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PNKD: view

Orthologs for PNKD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNKD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNKD 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PNKD 33 34
  • 92.03 (n)
rat
(Rattus norvegicus)
Mammalia Pnkd 33
  • 91.69 (n)
dog
(Canis familiaris)
Mammalia PNKD 33 34
  • 91.34 (n)
mouse
(Mus musculus)
Mammalia Pnkd 34 16 33
  • 90.56 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNKD 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNKD 33 34
  • 68.52 (n)
lizard
(Anolis carolinensis)
Reptilia PNKD 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnkd 33
  • 66.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15656 33
zebrafish
(Danio rerio)
Actinopterygii pnkd 33 34
  • 62.13 (n)
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 34
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO4 34
  • 29 (a)
ManyToMany
GLO2 34
  • 28 (a)
ManyToMany
Species where no ortholog for PNKD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for PNKD Gene

ENSEMBL:
Gene Tree for PNKD (if available)
TreeFam:
Gene Tree for PNKD (if available)

Paralogs for PNKD Gene

Paralogs for PNKD Gene

(2) SIMAP similar genes for PNKD Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PNKD Gene

genes like me logo Genes that share paralogs with PNKD: view

Variants for PNKD Gene

Sequence variations from dbSNP and Humsavar for PNKD Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1002252129 uncertain-significance, Paroxysmal choreoathetosis 218,345,187(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1031435484 uncertain-significance, Paroxysmal choreoathetosis 218,270,572(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1052578 benign, Paroxysmal choreoathetosis 218,345,883(+) T/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs115429065 likely-benign, Paroxysmal choreoathetosis 218,345,973(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs116144189 benign, Paroxysmal choreoathetosis 218,344,525(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for PNKD Gene

Variant ID Type Subtype PubMed ID
esv3594336 CNV gain 21293372
nsv519829 CNV loss 19592680

Variation tolerance for PNKD Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNKD Gene

Human Gene Mutation Database (HGMD)
PNKD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNKD

SNP Genotyping and Copy Number Assay Products

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

Disorders for PNKD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
familial paroxysmal nonkinesigenic dyskinesia
  • paroxysmal dystonic choreoathetosis
paroxysmal nonkinesigenic dyskinesia 1
  • pnkd1
paroxysmal choreoathetosis
  • paroxysmal nonkinesigenic dyskinesia
multiple congenital anomalies-hypotonia-seizures syndrome 1
  • mcahs1
hepatitis c virus
  • hepatitis c virus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PNKD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PNKD_HUMAN
  • Dystonia 8 (DYT8) [MIM:118800]: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. {ECO:0000269 PubMed:15262732, ECO:0000269 PubMed:15824259, ECO:0000269 PubMed:16632198, ECO:0000269 PubMed:16717228, ECO:0000269 PubMed:16972263}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PNKD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PNKD: view

No data available for Genatlas for PNKD Gene

Publications for PNKD Gene

  1. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. (PMID: 16972263) Stefanova E … Kostić VS (Movement disorders : official journal of the Movement Disorder Society 2006) 3 4 22 58
  2. Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. (PMID: 16632198) Hempelmann A … Sander T (Neuroscience letters 2006) 3 4 22 58
  3. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. (PMID: 15824259) Chen DH … Raskind WH (Archives of neurology 2005) 3 4 22 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. (PMID: 19124534) Ghezzi D … Zeviani M (Human molecular genetics 2009) 3 22 58

Products for PNKD Gene

Sources for PNKD Gene

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