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Lnpk Gene Detail
Summary
  • Symbol
    Lnpk
  • Name
    lunapark, ER junction formation factor
  • Synonyms
    2310011O18Rik, 4921514L11Rik, 9530051D01Rik, Lnp, Lnpk1, lunapark
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918115
    NCBI Gene: 69605
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:74350635-74409779 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 44.13 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    186 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918115
 protein coding gene Chr2:74345180-74409802 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025843
 protein coding gene Chr2:74819630-74882475 (-)
A/J MGP_AJ_G0025821
 protein coding gene Chr2:71900158-71960013 (-)
AKR/J MGP_AKRJ_G0025789
 protein coding gene Chr2:73849605-73908221 (-)
BALB/cJ MGP_BALBcJ_G0025815
 protein coding gene Chr2:72084186-72143090 (-)
C3H/HeJ MGP_C3HHeJ_G0025575
 protein coding gene Chr2:74048206-74107664 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026262
 protein coding gene Chr2:77061586-77126077 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023665
 protein coding gene Chr2:69319671-69378361 (-)
CAST/EiJ MGP_CASTEiJ_G0025039
 protein coding gene Chr2:74340923-74401925 (-)
CBA/J MGP_CBAJ_G0025556
 protein coding gene Chr2:79865133-79943011 (-)
DBA/2J MGP_DBA2J_G0025687
 protein coding gene Chr2:71495992-71572283 (-)
FVB/NJ MGP_FVBNJ_G0025649
 protein coding gene Chr2:70897341-70956887 (-)
LP/J MGP_LPJ_G0025775
 protein coding gene Chr2:74695179-74754910 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025680
 protein coding gene Chr2:81748174-81846727 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026319
 protein coding gene Chr2:73960028-74025895 (-)
PWK/PhJ MGP_PWKPhJ_G0024780
 protein coding gene Chr2:71430533-71493651 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024588
 protein coding gene Chr2:74198494-74262671 (-)
WSB/EiJ MGP_WSBEiJ_G0025107
 protein coding gene Chr2:74399661-74468803 (-)



Homology
more
  • Human Ortholog
    LNPK, lunapark, ER junction formation factor
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LNPK, lunapark, ER junction formation factor
  • Synonyms
    KIAA1715, LNP, LNP1, NEDEHCC, Ul, ulnaless
  • Links
    NCBI Gene ID: 80856
    neXtProt AC: NX_Q9C0E8
    UniProt: Q9C0E8

  • Chr Location
    2q31.1; chr2:175923882-176002839 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    15 phenotypes from multigenic genotypes
    2 images
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
A semidominant X-ray-induced mutation results in severe length reductions of forelimb and hindlimb zeugopods, near absence of ulna, abnormal articulations in the carpus and tarsus, and genetic background-sensitive postnatal survival; heterozygous males do not breed and show increased bleeding times.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    22
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    796
  • Tissues
    24
  • cDNA Data
    53
  • Literature Summary
    10
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000009207 Ensembl Gene Model | MGI Sequence Detail 59145 C57BL/6J ±  kb
transcript ENSMUST00000064503 Ensembl | MGI Sequence Detail 3195 Not Applicable  
polypeptide ENSMUSP00000066891 Ensembl | MGI Sequence Detail 425 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
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  • All nucleic 60
    cDNA 56
    Primer pair 3
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGI:1916855, MGI:1925870, MGI:2139043, MGI:2663626
References
more
  • Summaries
    All 64
    Developmental Gene Expression 10
    Gene Ontology 9
    Phenotypes 30
  • Earliest
    J:10491 Davisson MT, et al., The mouse mutation ulnaless on chromosome 2. J Hered. 1990 Mar-Apr;81(2):151-3
  • Latest
    J:269239 Breuss MW, et al., Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Aug 2;103(2):296-304
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory