PLD6 (phospholipase D family member 6)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 201164 |
| Gene name | Phospholipase D family member 6 |
| Gene symbol | PLD6 |
| Synonyms (NCBI Gene) |
ZUC
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| Chromosome | 17 |
| Chromosome location | 17p11.2 |
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miRNA
miRNA information provided by mirtarbase database.
359
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8N2A8 | ||||||||||
| Protein name | Mitochondrial cardiolipin hydrolase (EC 3.1.4.-) (Choline phosphatase 6) (Mitochondrial phospholipase) (MitoPLD) (Phosphatidylcholine-hydrolyzing phospholipase D6) (Phospholipase D6) (PLD6) (Protein zucchini homolog) | ||||||||||
| Protein function | Presents phospholipase and nuclease activities, depending on the different physiological conditions (PubMed:17028579, PubMed:21397847, PubMed:28063496). Interaction with Mitoguardin (MIGA1 or MIGA2) affects the dimer conformation, facilitating t | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Predominantly expressed in testis and ovary, but not limited to gonads (at protein level) (PubMed:17028579, PubMed:21397847). It is also found in brain, heart, pituitary gland, prostate, pancreas, thyroid, bone marrow, lung and muscle | ||||||||||
| Sequence |
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| Sequence length | 252 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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