Gene Gene information from NCBI Gene database.
Entrez ID 51090
Gene name Plasmolipin
Gene symbol PLLP
Synonyms (NCBI Gene)
PMLPTM4SF11
Chromosome 16
Chromosome location 16q13
miRNA miRNA information provided by mirtarbase database.
141
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600340 18553 ENSG00000102934
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bardet-Biedl Syndrome Bardet-Biedl Syndrome BEFREE 11707781
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl syndrome 2 (disorder) Bardet-Biedl Syndrome BEFREE 11707781
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 38082312 Associate
★☆☆☆☆
Found in Text Mining only
Focal cortical dysplasia of Taylor Focal cortical dysplasia Pubtator 34301297 Associate
★☆☆☆☆
Found in Text Mining only
Hematuria Hematuria Pubtator 35474271 Associate
★☆☆☆☆
Found in Text Mining only
Keratoconus Keratoconus BEFREE 29321650
★☆☆☆☆
Found in Text Mining only
Keratoconus Keratoconus Pubtator 29321650 Inhibit
★☆☆☆☆
Found in Text Mining only
Malignant mesothelioma Malignant Mesothelioma CTD_human_DG 25756049
★☆☆☆☆
Found in Text Mining only
Peripheral demyelinating neuropathy Demyelinating neuropathy BEFREE 11707781
★☆☆☆☆
Found in Text Mining only
Retinal Dystrophies Retinal Dystrophy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only