LNPK (lunapark, ER junction formation factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80856
Gene name Gene Name - the full gene name approved by the HGNC.
Lunapark, ER junction formation factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LNPK
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1715, LNP, LNP1, NEDEHCC, Ul, ulnaless
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610236 21610 ENSG00000144320
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum rs1553498948, rs1391644554 N/A
Show/Hide Unknown Diseases (4)
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
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Pelvic Organ Prolapse Pelvic organ prolapse N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease 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