LNPK (lunapark, ER junction formation factor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 80856
Gene name Lunapark, ER junction formation factor
Gene symbol LNPK
Synonyms (NCBI Gene)
KIAA1715LNPLNP1NEDEHCCUlulnaless
Chromosome 2
Chromosome location 2q31.1
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs1391644554 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs1553498948 T>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
117
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (117)
miRTarBase ID miRNA Experiments Reference
MIRT675550 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT675549 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT675548 hsa-miR-548aj-3p HITS-CLIP 23824327
MIRT675547 hsa-miR-548am-3p HITS-CLIP 23824327
MIRT675546 hsa-miR-548aq-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 24223779
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610236 21610 ENSG00000144320
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0E8
Protein name Endoplasmic reticulum junction formation protein lunapark (ER junction formation factor lunapark)
Protein function Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology (PubMed:30032983). Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10058 zinc_ribbon_10 255 → 305 Predicted integral membrane zinc-ribbon metal-binding protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neural precursor cells, where it is detected at the growth-cone-like structure and branching sites of neurite-like processes. {ECO:0000269|PubMed:30032983}.
Sequence 
MGGLFSRWRTKPSTVEVLESIDKEIQALEEFREKNQRLQKLWVGRLILYSSVLYLFTCLI
VYLWYLPDEFTARLAMTLPFFAFPLIIWSIRTVIIFFFSKRTERNNEALDDLKSQRKKIL
EEVMEKETYKTAKLILERFDPDSKKAKECEPPSAGAAVTARPGQEIRQRTAAQRNLSPTP
ASPNQGPPPQVPVSPGPPKDSSAPGGPPERTVTPALSSNVLPRHLGSPATSVPGMGLHPP
GPPLARPILPRERGALDRIVEYLVGDGPQNRYALICQQCFSHNGMALKEEFEYIAFRCAY
CFFLNPARKTRPQAPRLPEFSFEKRQVVEGSSSVGPLPSGSVLSSDNQFNEESLEHDVLD
DNTEQTDDKIPATEQTNQVIEKASDSEEPEEKQETENEEASVIETNSTVPGADSIPDPEL
SGESLTAE
Sequence length 428
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum Pathogenic; Likely pathogenic rs1684599962, rs2105629680, rs2468610103, rs1322819699, rs1553498948, rs1391644554 RCV001330068
RCV001823674
RCV002810050
RCV003140531
RCV000677383
RCV000677384
Show/Hide Unknown Diseases (15)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs34897061, rs141241763 RCV005935496
RCV005937234
Cervical cancer Benign rs34897061, rs141241763 RCV005935498
RCV005937237
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs141241763 RCV005937242
Colon adenocarcinoma Benign rs34897061 RCV005935495
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Hepatic Veno Occlusive Disease Associate 31790828
Neoplasm Metastasis Inhibit 37087570
Neoplasms Associate 37087570
Periodontitis Associate 35179257