Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25953
Gene name Gene Name - the full gene name approved by the HGNC.
PNKD metallo-beta-lactamase domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PNKD
Synonyms (NCBI Gene) Gene synonyms aliases
BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, R1, TAHCCP2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
Summary Summary of gene provided in NCBI Entrez 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. [provi
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609023 9153 ENSG00000127838
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Paroxysmal nonkinesigenic dyskinesia paroxysmal nonkinesigenic dyskinesia 1, paroxysmal nonkinesigenic dyskinesia rs121434512, rs121434511 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholelithiasis Cholelithiasis N/A N/A GWAS
Colorectal Cancer Colorectal cancer, Early onset colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease 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