Gene Gene information from NCBI Gene database.
Entrez ID 201164
Gene name Phospholipase D family member 6
Gene symbol PLD6
Synonyms (NCBI Gene)
ZUC
Chromosome 17
Chromosome location 17p11.2
miRNA miRNA information provided by mirtarbase database.
359
miRTarBase ID miRNA Experiments Reference
MIRT042096 hsa-miR-484 CLASH 23622248
MIRT637597 hsa-miR-1228-3p HITS-CLIP 23824327
MIRT637596 hsa-miR-383-3p HITS-CLIP 23824327
MIRT637595 hsa-miR-342-3p HITS-CLIP 23824327
MIRT637594 hsa-miR-4795-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IEA
GO:0004620 Function Phospholipase activity IEA
GO:0005515 Function Protein binding IPI 26711011, 28852571
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614960 30447 ENSG00000179598
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF13091 PLDc_2 83 206 PLD-like domain Domain
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
MGRLSWQVAAAAAVGLALTLEALPWVLRWLRSRRRRPRREALFFPSQVTCTEALLRAPGA
ELAELPEGCPCGLPHGESALSRLLRALLAARASLDLCLFAFSSPQLGRAVQLLHQRGVRV
RVVTDCDYMALNGSQIGLLRKAGIQVRHDQDPGYMHHKFAIVDKRVLITGSLNWTTQAIQ
NNRENVLITEDDEYVRLFLEEFERIW
EQFNPTKYTFFPPKKSHGSCAPPVSRAGGRLLSW
HRTCGTSSESQT
Sequence length 252
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Male infertility Likely pathogenic rs2544099502 RCV004573393
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 31128893
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 34326815 Inhibit
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 37782162 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 21124956 Associate
★☆☆☆☆
Found in Text Mining only