NRP2
Basic information
Region (hg38): 2:205681989-205798133
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- NRP2-related condition (30 variants)
- not provided (29 variants)
- Inborn genetic diseases (29 variants)
- not specified (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRP2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 11 | 17 | ||||
missense | 54 | 64 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 1 | 2 | 3 | |||
non coding ? | 1 | |||||
Total | 0 | 1 | 54 | 19 | 10 |
Highest pathogenic variant AF is 0.00000657
Variants in NRP2
This is a list of pathogenic ClinVar variants found in the NRP2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-205683331-A-G | not specified | Uncertain significance (May 31, 2023) | ||
2-205683331-A-T | not specified | Uncertain significance (Feb 28, 2023) | ||
2-205683345-C-G | NRP2-related disorder • not specified | Conflicting classifications of pathogenicity (Dec 12, 2023) | ||
2-205697551-G-A | NRP2-related disorder | Likely benign (Apr 21, 2022) | ||
2-205697555-G-A | NRP2-related disorder | Uncertain significance (Sep 13, 2023) | ||
2-205697562-G-A | not specified | Uncertain significance (Dec 13, 2023) | ||
2-205697593-C-T | NRP2-related disorder | Benign (Nov 22, 2022) | ||
2-205697599-C-T | NRP2-related disorder | Likely benign (Aug 31, 2021) | ||
2-205697620-C-G | NRP2-related disorder | Likely benign (Dec 23, 2021) | ||
2-205697636-G-A | not specified | Uncertain significance (Jan 23, 2024) | ||
2-205697638-G-A | NRP2-related disorder | Likely benign (Jan 28, 2022) | ||
2-205697650-C-T | NRP2-related disorder | Likely benign (Jun 16, 2023) | ||
2-205697656-C-T | NRP2-related disorder | Likely benign (Jun 08, 2022) | ||
2-205697657-G-A | not specified | Uncertain significance (Jan 18, 2022) | ||
2-205697661-C-T | not specified | Uncertain significance (Aug 14, 2023) | ||
2-205697704-C-T | NRP2-related disorder | Likely benign (Feb 03, 2023) | ||
2-205697730-C-T | NRP2-related disorder | Likely benign (Jul 13, 2021) | ||
2-205697731-G-A | NRP2-related disorder | Likely benign (Jan 05, 2024) | ||
2-205716203-A-G | not specified | Uncertain significance (Dec 12, 2023) | ||
2-205716245-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
2-205716278-A-G | not specified | Uncertain significance (Jan 16, 2024) | ||
2-205716295-C-T | NRP2-related disorder | Likely benign (Nov 08, 2022) | ||
2-205716309-A-G | not specified | Benign (May 04, 2022) | ||
2-205716328-C-A | NRP2-related disorder | Benign/Likely benign (Oct 27, 2021) | ||
2-205716359-G-C | not specified | Uncertain significance (Jun 01, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NRP2 | protein_coding | protein_coding | ENST00000360409 | 17 | 116144 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000807 | 0.999 | 125708 | 0 | 40 | 125748 | 0.000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.18 | 472 | 550 | 0.858 | 0.0000347 | 6126 |
Missense in Polyphen | 199 | 273.56 | 0.72744 | 3035 | ||
Synonymous | -0.510 | 236 | 226 | 1.04 | 0.0000157 | 1806 |
Loss of Function | 4.47 | 15 | 48.6 | 0.308 | 0.00000242 | 525 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000515 | 0.000514 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000326 | 0.000326 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000176 | 0.000176 |
Middle Eastern | 0.000326 | 0.000326 |
South Asian | 0.0000653 | 0.0000653 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF.;
- Pathway
- VEGFA-VEGFR2 Signaling Pathway;EMT transition in Colorectal Cancer;Developmental Biology;Signal Transduction;Neurophilin interactions with VEGF and VEGFR;NrCAM interactions;Signaling by VEGF;L1CAM interactions;Axon guidance;Signaling by Receptor Tyrosine Kinases;VEGF and VEGFR signaling network;VEGFR1 specific signals
(Consensus)
Recessive Scores
- pRec
- 0.151
Intolerance Scores
- loftool
- 0.0247
- rvis_EVS
- -1.08
- rvis_percentile_EVS
- 7.28
Haploinsufficiency Scores
- pHI
- 0.310
- hipred
- Y
- hipred_score
- 0.744
- ghis
- 0.550
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.986
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nrp2
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); muscle phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; embryo phenotype; immune system phenotype;
Zebrafish Information Network
- Gene name
- nrp2b
- Affected structure
- cranial neural crest
- Phenotype tag
- abnormal
- Phenotype quality
- disrupted
Gene ontology
- Biological process
- angiogenesis;positive regulation of endothelial cell proliferation;outflow tract septum morphogenesis;cell adhesion;axon guidance;positive regulation of endothelial cell migration;viral process;facial nerve structural organization;vestibulocochlear nerve structural organization;nerve development;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;ventral trunk neural crest cell migration;vascular endothelial growth factor signaling pathway;vascular endothelial growth factor receptor signaling pathway;axon extension involved in axon guidance;negative chemotaxis;sympathetic ganglion development;trigeminal ganglion development;sensory neuron axon guidance;sympathetic neuron projection extension;sympathetic neuron projection guidance;regulation of postsynapse organization;neural crest cell migration involved in autonomic nervous system development;semaphorin-plexin signaling pathway involved in neuron projection guidance;facioacoustic ganglion development;dorsal root ganglion morphogenesis;cellular response to leukemia inhibitory factor
- Cellular component
- semaphorin receptor complex;extracellular region;plasma membrane;membrane;integral component of membrane;axon;glutamatergic synapse;integral component of postsynaptic membrane
- Molecular function
- vascular endothelial growth factor-activated receptor activity;protein binding;heparin binding;semaphorin receptor activity;growth factor binding;cytokine binding;signaling receptor activity;metal ion binding