Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
122618
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase D family member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLD4
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf175
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016764 hsa-miR-335-5p Microarray 18185580
MIRT1240306 hsa-miR-1343 CLIP-seq
MIRT1240307 hsa-miR-3179 CLIP-seq
MIRT1240308 hsa-miR-3202 CLIP-seq
MIRT1240309 hsa-miR-3690 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0002376 Process Immune system process IEA
GO:0003824 Function Catalytic activity IEA
GO:0004518 Function Nuclease activity IEA
GO:0004527 Function Exonuclease activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618488 23792 ENSG00000166428
Protein
UniProt ID Q96BZ4
Protein name 5'-3' exonuclease PLD4 (EC 3.1.16.1) ((S,S)-bis(monoacylglycero)phosphate synthase PLD4) (EC 3.1.4.-) (Phospholipase D family member 4) (Phospholipase D4)
Protein function 5'->3' exonuclease that hydrolyzes the phosphodiester bond of single-stranded DNA (ssDNA) and RNA molecules to form nucleoside 3'-monophosphates and 5'-end 5'-hydroxy deoxyribonucleotide/ribonucleotide fragments (PubMed:30111894, PubMed:34620855
PDB 8V08
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13918 PLDc_3 239 416 PLD-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in plasmacytoid dendritic cells and monocytes (at protein level). {ECO:0000269|PubMed:38697119}.
Sequence
MLKPLWKAAVAPTWPCSMPPRRPWDREAGTLQVLGALAVLWLGSVALICLLWQVPRPPTW
GQVQPKDVPRSWEHGSSPAWEPLEAEARQQRDSCQLVLVESIPQDLPSAAGSPSAQPLGQ
AWLQLLDTAQESVHVASYYWSLTGPDIGVNDSSSQLGEALLQKLQQLLGRNISLAVATSS
PTLARTSTDLQVLAARGAHVRQVPMGRLTRGVLHSKFWVVDGRHIYMGSANMDWRSLTQV
KELGAVIYNCSHLAQDLEKTFQTYWVLGVPKAVLPKTWPQNFSSHFNRFQPFHGLFDGVP
TTAYFSASPPALCPQGRTRDLEALLAVMGSAQEFIYASVMEYFPTTRFSHPPRYWPVLDN
ALRAAAFGKGVRVRLLVGCGLNTDPTMFPYLRSLQALSNPAANVSVDVKVFIVPVG
NHSN
IPFSRVNHSKFMVTEKAAYIGTSNWSEDYFSSTAGVGLVVTQSPGAQPAGATVQEQLRQL
FERDWSSRYAVGLDGQAPGQDCVWQG
Sequence length 506
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycerophospholipid metabolism
Ether lipid metabolism
Metabolic pathways
  Synthesis of IP3 and IP4 in the cytosol
Role of phospholipids in phagocytosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Glioblastoma Glioblastoma N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33288674
Arthritis Rheumatoid Associate 23577190
Breast Neoplasms Associate 34666190
Lupus Erythematosus Systemic Associate 33288674, 37840148
Neuroinflammatory Diseases Associate 35732154
Scleroderma Systemic Associate 23124809
Spinocerebellar Ataxias Associate 33288674