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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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25953
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Gene name
Gene Name - the full gene name approved by the HGNC.
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PNKD metallo-beta-lactamase domain containing |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PNKD |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, R1, TAHCCP2 |
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Chromosome
Chromosome number
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2 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q35 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
| UniProt ID |
Q8N490
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| 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 |
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PF00753
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Lactamase_B |
145 → 291 |
Metallo-beta-lactamase superfamily |
Domain |
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PF16123
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HAGH_C |
292 → 382 |
Hydroxyacylglutathione hydrolase C-terminus |
Family |
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| 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 |
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| Sequence length |
385 |
| Interactions |
View interactions
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Paroxysmal nonkinesigenic dyskinesia |
paroxysmal nonkinesigenic dyskinesia 1, paroxysmal nonkinesigenic dyskinesia |
rs121434511, rs121434512 |
N/A |
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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.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Cholelithiasis |
Cholelithiasis |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Early onset colorectal cancer, 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 |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
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