Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51090
Gene name Gene Name - the full gene name approved by the HGNC.
Plasmolipin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLLP
Synonyms (NCBI Gene) Gene synonyms aliases
PMLP, TM4SF11
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q13
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017174 hsa-miR-335-5p Microarray 18185580
MIRT696824 hsa-miR-124-3p HITS-CLIP 23313552
MIRT696834 hsa-miR-3714 HITS-CLIP 23313552
MIRT696833 hsa-miR-3910 HITS-CLIP 23313552
MIRT462542 hsa-miR-6808-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0005886 Component Plasma membrane IDA 26002055
GO:0005886 Component Plasma membrane IEA
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600340 18553 ENSG00000102934
Protein
UniProt ID Q9Y342
Protein name Plasmolipin (Plasma membrane proteolipid)
Protein function Main component of the myelin sheath that plays an important role in myelin membrane biogenesis and myelination (PubMed:26002055). Plays an essential function in apical endocytosis. Regulates epithelial development through the regulation of apica
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01284 MARVEL 32 160 Membrane-associating domain Domain
Sequence
Sequence length 182
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)
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
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 38082312
Focal cortical dysplasia of Taylor Associate 34301297
Hematuria Associate 35474271
Keratoconus Inhibit 29321650
Schizophrenia Associate 38082312