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Relevance to Autism

Genetic association has been found between the NRP2 gene and autism in a Chinese Han population cohort (Wu et al., 2007).

Molecular Function

High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of the neuropilin-2 (NRP2) gene polymorphisms with autism in Chinese Han population.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Highly Cited
Neuropilin is a semaphorin III receptor.
Highly Cited
Neuropilin-2 regulates the development of selective cranial and sensory nerves and hippocampal mossy fiber projections.
Recent Recommendation
Dlx homeobox genes promote cortical interneuron migration from the basal forebrain by direct repression of the semaphorin receptor neuropilin-2.
Recent Recommendation
Neuropilin 2/semaphorin 3F signaling is essential for cranial neural crest migration and trigeminal ganglion condensation.
Recent Recommendation
Neuropilins and their ligands are important in the migration of gonadotropin-releasing hormone neurons.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN178R001 
 intergenic_variant 
 G>T 
  
  
  
 Unknown 
 GEN178R002 
 synonymous_variant 
 c.2001C>T 
 p.Thr667= 
 De novo 
  
 Simplex 
 GEN178R003 
 missense_variant 
 c.1858G>A 
 p.Glu620Lys 
 Unknown 
  
  
 GEN178R004 
 missense_variant 
 c.2114C>G 
 p.Pro705Arg 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN178C001 
 intron_variant 
 rs849578 
 c.1147-1721G>T 
 C/A 
 Chinese Han 
 Discovery 
 GEN178C002 
 synonymous_variant 
 rs849563 
 c.1674T>G 
 p.(=) 
 Chinese Han 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Duplication
 1
 
2
Duplication
 2
 
2
Duplication
 1
 
2
Duplication
 1
 
2
Deletion
 3
 
2
Deletion
 1
 
2
Deletion
 3
 

Model Summary

Npn-1 and Npn-2 are required for development of an overlapping, but largely distinct, set of CNS and PNS projections.

References

Type
Title
Author, Year
Primary
Neuropilin-2 is required in vivo for selective axon guidance responses to secreted semaphorins.
Additional
Decreased number of interneurons and increased seizures in neuropilin 2 deficient mice: implications for autism and epilepsy.

M_NRP2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeting vector designed to replace exon 1 and an additional 1.7 kb of upstream sequences of Nrp2 with a neomycin expression cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129SVJ
Genetic Background: C57BL/6-J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_NRP2_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeting vector designed to replace exon 1 and an additional 1.7 kb of upstream sequences of Nrp2 with a neomycin expression cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129SVJ
Genetic Background: C57BL/6-J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_NRP2_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination using Cre-loxP of 1kb of first intron.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J X B129
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_NRP2_4_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination using Cre-loxP of 1kb of first intron.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J X B129
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_NRP2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain morphology1
Abnormal
Description: Abnormal hippocampal wiring morphology - increased lateral growth of fiber bundles in the ca3 field, entering the stratum pyramidale of ca3; less tightly bundled fornix
Exp Paradigm: Immunohistochemical analysis using antineurofilament (2h3) antibodies on brain sections
 Immunohistochemistry
 Unreported
Spinal nerve branch point morphology1
Abnormal
Description: Abnormal spinal nerve branch point morphology - less compact and defasciculated at the segregation of the dorsal ramus and ramus communicantes
Exp Paradigm: Immunohistochemical analysis using anti neurofilament (2h3) and anti-tag1 (4d7) in transverse spinal cord sections
 Immunohistochemistry
 E12-e14
Anatomical projections and connectivity1
Abnormal
Description: Abnormal axonal pathfinding resulting in disorganized or absent trajectories of several cranial nerves - defasciculated oculomotor, and ophthalmic, maxillary, and mandibular branches of trigeminal nerve, absent trochlear nerve,
Exp Paradigm: Immunohistochemical analysis using antineurofilament (2h3) antibodies on whole-mount preparations
 Immunohistochemistry
 E11
Brain morphology1
Abnormal
Description: Abnormal thalamus tract morphology - reduced size and organization of the fasciculus retroflexus
Exp Paradigm: Immunohistochemical analysis using antibodies against map-2 of horizontal sections through brains
 Immunohistochemistry
 Unreported
Brain morphology1
Abnormal
Description: Abnormal morphology of commissural axons in spinal cord - less pronounced bundling of the ipsilateral projections
Exp Paradigm: Immunohistochemical analysis using anti-tag1 (4d7) in transverse spinal cord sections
 Immunohistochemistry
 E12-e14
Mortality/lethality1
Increased
Description: Increased rate of mortality of neonatal and juvenile
Exp Paradigm: General observations
 General observations
 Unreported
Protein binding1
Decreased
Description: Decreased endogenous binding sites of sema3c within hippocampus, fornix, and medial habenula
Exp Paradigm: Sema3c endogenous binding site
 In situ ligand binding studies
 P1
Gene expression1
Decreased
Description: Decreased expression of both nrp2 transcripts
Exp Paradigm: Nrp2 rna expression
 Northern blot
 E15
Protein expression level evidence1
Decreased
Description: Decreased expression of nrp2 in brain extracts
Exp Paradigm: Nrp2 protein expression
 Western blot
 P1
Protein binding1
Decreased
Description: Decreased endogenous binding sites of sema3f within hippocampus, afferent and efferent hippocampal projections - the fimbria and fornix, accessory olfactory bulb, and medial habenula
Exp Paradigm: Sema3f endogenous binding site
 In situ ligand binding studies
 P1
General characteristics1
 No change
 General observations
 Unreported
Protein expression level evidence1
 No change
 Western blot
 P1
Brain morphology1
 No change
 Immunohistochemistry
 E11
Brain morphology1
 No change
 Histology
 Unreported
Brain morphology1
 No change
 Immunohistochemistry
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_NRP2_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Gene expression1
Decreased
Description: Decreased expression of a single nrp2 transcript
Exp Paradigm: Nrp2 rna expression
 Northern blot
 E15
Mortality/lethality1
 No change
 General observations
 Unreported
Protein expression level evidence1
 No change
 Western blot
 P1
Protein expression level evidence1
 No change
 Western blot
 P1
Brain morphology1
 No change
 Immunohistochemistry
 E11
Brain morphology1
 No change
 Immunohistochemistry
 Unreported
Spinal nerve branch point morphology1
 No change
 Immunohistochemistry
 E12-e14
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_NRP2_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuronal number: interneurons1
Decreased
Description: Decreased number of nissl-stained large nuclei outside principal cell layers in hippocampal subregions
Exp Paradigm: Cell counting method using cresyl violet and nissl stained sections of hippocampus
 Cell counting
 Unreported
Neuronal number: interneurons1
Decreased
Description: Decreased number of neuropeptide y (npy) positive neurons and fibers in ca1, ca3, and dg/h subregion of hippocampus
Exp Paradigm: Npy
 Western blot
 2-6 months
Neuronal number: interneurons1
Decreased
Description: Decreased number of gaba positive interneurons in dg/h, ca3, and ca1 regions of hippocampus
Exp Paradigm: Gaba
 Immunohistochemistry
 Unreported
Neuronal number: interneurons1
Decreased
Description: Decreased number of parvalbumin positive neurons within ca1 and ca3, specifically stratum lucidum and stratum oriens subregions of hippocampus
Exp Paradigm: Pv
 Western blot
 2-6 months
Seizures1
Increased
Description: Increased spontaneous seizure activity
Exp Paradigm: General observations
 General observations
 4 months
Seizures1
Increased
Description: Increased lethality due to seizures after administration of chemoconvulsant kainic acid-se
Exp Paradigm: General observations after administration of 15mg/kg injection of kainic acid
 General observations
 2 months
Protein localization: synapse1
Decreased
Description: Decreased expression of parvalbumin, gad-65, gabaa receptor a1 proteins in hippocampal synaptosome preparation
Exp Paradigm: Protein profile of synapse
 Western blot
 2-6 months
Protein expression level evidence1
Decreased
Description: Decreased expression of nrp2 protein in hippocampus
Exp Paradigm: Nrp2 protein expression
 Immunohistochemistry
 2-6 months
Gene expression1
Decreased
Description: Decreased total hippocampal nrp2 mrna
Exp Paradigm: Nrp2 mrna expression
 Quantitative pcr (qrt-pcr)
 2-6 months
Protein localization: synapse1
Increased
Description: Increased expression of gad-67, gat-1, and gabaa receptor b 2/3 protein in hippocampal synaptosome preparation
Exp Paradigm: Protein profile of synapse
 Western blot
 2-6 months
Size/growth1
 No change
 General observations
 Unreported
Protein localization: synapse1
 No change
 Western blot
 2-6 months
Neuronal number: purkinje cells1
 No change
 Western blot
 2-6 months
Neuronal number: purkinje cells1
 No change
 Western blot
 2-6 months
Neuronal number: purkinje cells1
 No change
 Cell counting
 Unreported
Self grooming: social context1
 No change
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory

M_NRP2_4_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Dendritic architecture: spine density1
Increased
Description: Increased number of n-type and d-type spines and total spine density of ca1 pyramidal cells
Exp Paradigm: Golgi-staining analysis of coronal tissue blocks
 Golgi-cox staining
 12 weeks
Dendritic architecture: spine density1
Decreased
Description: Decreased dendritic branching and total dendritic length of ca1 pyramidal cells
Exp Paradigm: Golgi-staining analysis of coronal tissue blocks
 Golgi-cox staining
 12 weeks
Synaptic plasticity1
Decreased
Description: Decreased faciliation of secondary population spikes elicited during the 7 hz stimulation train in field ca1 of hippocampus
Exp Paradigm: Extracellular patch clamp recordings after synaptic stimulation train of hippocampal field ca1 slices
 Field potential recordings
 Unreported
Synaptic transmission1
Increased
Description: Increased excitation as inferred by population spike amplitude in field ca1 of hippocampus
Exp Paradigm: I/o analysis of hippocampus
 Field potential recordings
 Unreported
Seizures1
Increased
Description: Increased spontaneous seizure activity
Exp Paradigm: General observations
 General observations
 Unreported
Seizures1
Decreased
Description: Decreased latency to seize in response to administration of chemoconvulsant penetylenetetrazol (ptz)
Exp Paradigm: General observations after administration of 50 mg/kg injection of ptz
 General observations
 2 months
Seizures1
Decreased
Description: Decreased latency to seize in response to administration of chemoconvulsant ka-se
Exp Paradigm: General observations after administration of 15mg/kg injection of kainic acid
 General observations
 2 months
Synaptic transmission1
 No change
 Field potential recordings
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download NRP2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide 483 P54709 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHN2 chimerin 2 1124 E9PGE0 IP/WB
Riccomagno MM , et al. 2012
DEFA1 Neutrophil defensin 1 1667 P59665 IP; LC-MS/MS
Huttlin EL , et al. 2015
DEFA5 Defensin-5 1670 Q01523 IP; LC-MS/MS
Huttlin EL , et al. 2015
DLX1 distal-less homeobox 1 1745 P56177 ChIP; EMSA; Luciferase reporter assay
Le TN , et al. 2007
DLX2 distal-less homeobox 2 1746 Q07687 ChIP; EMSA; Luciferase reporter assay
Le TN , et al. 2007
FAM5C BMP/retinoic acid-inducible neural-specific protein 3 339479 Q76B58 IP; LC-MS/MS
Huttlin EL , et al. 2015
FCGR3B Low affinity immunoglobulin gamma Fc region receptor III-B E9PNY5 IP; LC-MS/MS
Huttlin EL , et al. 2015
FIGF c-fos induced growth factor (vascular endothelial growth factor D) 2277 O43915 in vitro binding assay
Krpnen T , et al. 2006
FLT1 fms-related tyrosine kinase 1 2321 P17948 BS3 crosslinking; I-125 binding assay; IP
Gluzman-Poltorak Z , et al. 2001
FLT4 fms-related tyrosine kinase 4 2324 P35916 IP/WB
Favier B , et al. 2006
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
HGF hepatocyte growth factor (hepapoietin A; scatter factor) 3082 P14210 ELISA
Sulpice E , et al. 2007
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 3091 Q16665 Luciferase reporter assay
Coma S , et al. 2011
ITGA6 integrin, alpha 6 3655 P23229 IP/WB
Goel HL , et al. 2012
KDR kinase insert domain receptor (a type III receptor tyrosine kinase) 3791 P35968 IP/WB
Favier B , et al. 2006
LYZL1 Lysozyme-like protein 1 84569 Q6UWQ5-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
NAAA N-acylethanolamine acid amidase 27163 Q02083 IP; LC-MS/MS
Huttlin EL , et al. 2015
NKX2-1 NK2 homeobox 1 7080 P43699 ChIP; Luciferase reporter assay
Nbrega-Pereira S , et al. 2008
NRCAM neuronal cell adhesion molecule 4897 Q14CA1 IP/WB
Falk J , et al. 2005
NRP2 neuropilin 2 8828 O60462 X-ray crystallography
Appleton BA , et al. 2007
NXPH2 Neurexophilin-2 11249 O95156 IP; LC-MS/MS
Huttlin EL , et al. 2015
PCDHGB1 Protocadherin gamma-B1 56104 Q9Y5G3-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
PGF placental growth factor 5228 P49763 I-125 binding assay
Gluzman-Poltorak Z , et al. 2000
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 26191 B4DZW8 in vitro binding assay
Roth L , et al. 2011
RYK receptor-like tyrosine kinase 6259 P34925 Affinity chromatography; MS
Berndt JD , et al. 2011
Sema3c sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 20348 Q62181 Equilibrium binding assay
Chen H , et al. 1997
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 6405 Q13275 Equilibrium binding assay
Chen H , et al. 1997
SEMA3G sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 56920 Q9NS98 Sema3G-alkaline phosphatase protein binding assay
Taniguchi M , et al. 2005
SIAE sialic acid acetylesterase 54414 Q9HAT2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ST8SIA3 Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase 51046 O43173 IP; LC-MS/MS
Huttlin EL , et al. 2015
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 7903 Q92187 IP/WB
Zapater JL and Colley KJ 2011
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 7903 Q92187 IP; LC-MS/MS
Huttlin EL , et al. 2015
TAZ Tafazzin 6901 Q16635-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TGFB1 transforming growth factor, beta 1 7040 P01137 Surface plasmon resonance (SPR); IP/WB
Grandclement C , et al. 2011
TGFBR1 transforming growth factor, beta receptor 1 7046 P36897 ELISA; IP/WB
Glinka Y , et al. 2010
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 7048 P37173 ELISA
Glinka Y , et al. 2010
TSPAN11 Tetraspanin-11 441631 A1L157 IP; LC-MS/MS
Huttlin EL , et al. 2015
VEGFA vascular endothelial growth factor A 7422 P15692 I-125 binding assay
Gluzman-Poltorak Z , et al. 2000
VEGFC vascular endothelial growth factor C 7424 P49767 in vitro binding assay
Krpnen T , et al. 2006
Nr2f2 nuclear receptor subfamily 2, group F, member 2 11819 P43135 ChIP
Tang K , et al. 2012
MIR188 microRNA 188 406964 N/A Luciferase reporter assay
Lee K , et al. 2012
NRP1 neuropilin 1 8829 O14786 IP/WB
Giger RJ , et al. 1998

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