Gene Gene information from NCBI Gene database.
Entrez ID 25953
Gene name PNKD metallo-beta-lactamase domain containing
Gene symbol PNKD
Synonyms (NCBI Gene)
BRP17DYT8FKSG19FPD1KIPP1184MR-1MR-1SMR1PDCPKND1PNKD1R1TAHCCP2
Chromosome 2
Chromosome location 2q35
Summary 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. [provi
miRNA miRNA information provided by mirtarbase database.
569
miRTarBase ID miRNA Experiments Reference
MIRT047847 hsa-miR-30c-5p CLASH 23622248
MIRT722502 hsa-miR-181a-5p HITS-CLIP 19536157
MIRT722501 hsa-miR-181b-5p HITS-CLIP 19536157
MIRT722500 hsa-miR-181c-5p HITS-CLIP 19536157
MIRT722499 hsa-miR-181d-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0004416 Function Hydroxyacylglutathione hydrolase activity IEA
GO:0005515 Function Protein binding IPI 25066297, 25416956, 25910212, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609023 9153 ENSG00000127838
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N490
Protein name Probable thioesterase PNKD (EC 3.1.2.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2)
Protein function Probable thioesterase that may play a role in cellular detoxification processes; it likely acts on a yet-unknown alpha-hydroxythioester substrate (Probable). In vitro, it is able to catalyze the hydrolysis of S-D-lactoyl-glutathione to form glut
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00753 Lactamase_B 145 291 Metallo-beta-lactamase superfamily Domain
PF16123 HAGH_C 292 382 Hydroxyacylglutathione hydrolase C-terminus Family
Tissue specificity 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. {ECO:0000269|PubMed:15188056, ECO:0000269|PubMed:15262732, ECO:0000269|PubMe
Sequence
Sequence length 385
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
606
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Episodic hemiplegia Likely pathogenic; Pathogenic rs121434511 RCV000414943
Paroxysmal dyskinesia Likely pathogenic; Pathogenic rs121434511 RCV000414943
Paroxysmal dystonia Likely pathogenic; Pathogenic rs121434511 RCV000414943
Paroxysmal nonkinesigenic dyskinesia Likely pathogenic; Pathogenic rs121434511, rs121434512 RCV002512664
RCV001050396
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity; Uncertain significance rs370929830, rs577027430 RCV005896109
RCV005902106
Cholangiocarcinoma Benign rs62182085 RCV005911547
Clear cell carcinoma of kidney Benign; Likely benign rs147259983 RCV005896106
Colon adenocarcinoma Benign rs144856848 RCV005907017
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25066297
Carcinoma Hepatocellular Stimulate 18948272
Carcinoma Hepatocellular Associate 26823810
Carcinoma Pancreatic Ductal Associate 23696030
Carcinoma Renal Cell Associate 35456426
Inflammatory Bowel Diseases Associate 26210163
Neoplasms Associate 18948272, 21702971, 23082061, 25066297, 35456426
Obesity Associate 28211912
Ovarian Neoplasms Associate 21702971
Stomach Neoplasms Associate 23082061