Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

117

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
MIRT675545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT675544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT675543	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT675542	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT675541	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT675540	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT675539	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT675538	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT675537	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT649215	hsa-miR-4438	HITS-CLIP	23824327
MIRT649214	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT649213	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT649212	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT649211	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649210	hsa-miR-1913	HITS-CLIP	23824327
MIRT649209	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT649208	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT667706	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT649207	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT649206	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT649205	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT649204	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT649203	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT649202	hsa-miR-5095	HITS-CLIP	23824327
MIRT649201	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT649200	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT649198	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT649199	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT649215	hsa-miR-4438	HITS-CLIP	23824327
MIRT649214	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT649213	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT649212	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT649211	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649210	hsa-miR-1913	HITS-CLIP	23824327
MIRT649209	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT649208	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT649207	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT649206	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT649205	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT649204	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT649203	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT649202	hsa-miR-5095	HITS-CLIP	23824327
MIRT649201	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT649200	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT649199	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT649198	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT545407	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT545406	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT545405	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT545404	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT545403	hsa-miR-208a-5p	PAR-CLIP	21572407
MIRT545402	hsa-miR-208b-5p	PAR-CLIP	21572407
MIRT545401	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT545400	hsa-miR-5692b	PAR-CLIP	21572407
MIRT545399	hsa-miR-5692c	PAR-CLIP	21572407
MIRT545398	hsa-miR-3140-3p	PAR-CLIP	21572407
MIRT545397	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT545396	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT545395	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT545407	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT545406	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT545405	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT545404	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT545403	hsa-miR-208a-5p	PAR-CLIP	21572407
MIRT545402	hsa-miR-208b-5p	PAR-CLIP	21572407
MIRT545401	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT545400	hsa-miR-5692b	PAR-CLIP	21572407
MIRT545399	hsa-miR-5692c	PAR-CLIP	21572407
MIRT545398	hsa-miR-3140-3p	PAR-CLIP	21572407
MIRT545397	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT545396	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT545395	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT490545	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT490544	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT490543	hsa-miR-6815-5p	PAR-CLIP	23592263
MIRT490542	hsa-miR-6865-5p	PAR-CLIP	23592263
MIRT490541	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT490540	hsa-miR-5693	PAR-CLIP	23592263
MIRT490539	hsa-miR-20b-3p	PAR-CLIP	23592263
MIRT490538	hsa-miR-6134	PAR-CLIP	23592263
MIRT490537	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT490536	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT490535	hsa-miR-3689d	PAR-CLIP	23592263
MIRT490534	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT490533	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT490532	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT490531	hsa-miR-4736	PAR-CLIP	23592263
MIRT490530	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT490529	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT490528	hsa-miR-449a	PAR-CLIP	23592263
MIRT490527	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT490526	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT490525	hsa-miR-7974	PAR-CLIP	23592263
MIRT490524	hsa-miR-4687-3p	PAR-CLIP	23592263
MIRT490523	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT490522	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490521	hsa-miR-5698	PAR-CLIP	23592263
MIRT490520	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490519	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490518	hsa-miR-3688-5p	PAR-CLIP	23592263
MIRT490517	hsa-miR-891a-3p	PAR-CLIP	23592263
MIRT490516	hsa-miR-644a	PAR-CLIP	23592263
MIRT490514	hsa-miR-7150	PAR-CLIP	23592263
MIRT447494	hsa-miR-1276	PAR-CLIP	22100165
MIRT447493	hsa-miR-3163	PAR-CLIP	22100165
MIRT447492	hsa-miR-4528	PAR-CLIP	22100165
MIRT447491	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT447490	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT447489	hsa-miR-6086	PAR-CLIP	22100165
MIRT447488	hsa-miR-6847-3p	PAR-CLIP	22100165
MIRT447487	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT735790	hsa-miR-126-3p	Luciferase reporter assayWestern blotting	33501603

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
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IMP	30032983
GO:0007596	Process	Blood coagulation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12732147
GO:0032330	Process	Regulation of chondrocyte differentiation	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IDA	27619977
GO:0046872	Function	Metal ion binding	IEA
GO:0060173	Process	Limb development	NAS	12732147
GO:0071782	Component	Endoplasmic reticulum tubular network	IBA
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IBA
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IEA
GO:0071788	Process	Endoplasmic reticulum tubular network maintenance	IMP	25548161, 27619977
GO:0098826	Component	Endoplasmic reticulum tubular network membrane	IDA	24223779, 25404289, 25548161, 27619977
GO:1903373	Process	Positive regulation of endoplasmic reticulum tubular network organization	IMP	24223779, 25404289

MIM	HGNC	e!Ensembl
610236	21610	ENSG00000144320

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

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LNPK-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma of lung	Lung carcinoma	BEFREE	29541240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28957395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28957395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30032983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	31790828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	GENOMICS_ENGLAND_DG	30032983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30032983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30458889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29541240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28957395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30926950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30926950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22542825, 30458889		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	GENOMICS_ENGLAND_DG	30032983		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Periodontitis	Periodontitis	Pubtator	35179257	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29502423		★★★★★ ★☆☆☆☆ Found in Text Mining only

LNPK (lunapark, ER junction formation factor)