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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NXPH2
neurexophilin 2
Chromosome 2 · 2q22.1
NCBI Gene: 11249Ensembl: ENSG00000144227.5HGNC: HGNC:8076UniProt: O95156
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor bindingneuropeptide signaling pathwayextracellular regionmajor salivary gland cancersialolithiasisjaw diseaseskin disease
✦AI Summary

NXPH2 (neurexophilin 2) is a signaling molecule that likely functions through binding to alpha-neurexins and possibly other receptors 1, acting as a neuropeptide-like factor in nervous system signaling pathways. The gene exhibits altered expression patterns in pancreatic ductal adenocarcinoma, where NXPH2 expression levels are significantly higher in tumor specimens compared to normal pancreatic tissue, potentially serving as a biomarker for tumor identification and lymph node metastasis assessment 2. Genetically, NXPH2 variants show associations with immune and disease susceptibility traits: a NXPH2 SNP (rs4954956) is associated with increased ovarian cancer risk, particularly serous histological subtypes 3, and separately, NXPH2 SNPs have demonstrated genome-wide significant association with HLA Class I alloimmunization in previously pregnant blood donors, suggesting a role in immune-mediated alloantibody formation 1. Recent genomic analyses identify NXPH2 as a novel gene associated with hemiplegic migraine 4 and reveal differential methylation patterns of NXPH2 in growth hormone-treated small-for-gestational-age newborns 5. These findings collectively suggest NXPH2 participates in immune regulation and may influence cancer development and neurological conditions, though molecular mechanisms remain incompletely understood.

Sources cited
1
NXPH2 SNP associated with genome-wide significance for HLA Class I alloimmunization in blood donors; gene family members impact immunity
PMID: 29168253
2
NXPH2 expression significantly higher in pancreatic ductal adenocarcinoma specimens versus normal tissue; potential biomarker for tumor identification and lymph node metastasis
PMID: 27817196
3
NXPH2 SNP rs4954956 associated with increased ovarian cancer risk, particularly serous histological subtype
PMID: 19304784
4
NXPH2 identified as novel gene associated with hemiplegic migraine through gene-based burden testing
PMID: 40725463
5
NXPH2 shows differential methylation patterns in growth hormone-treated versus untreated small-for-gestational-age newborns
PMID: 40564006
Disease Associationsⓘ20
major salivary gland cancerOpen Targets
0.31Weak
sialolithiasisOpen Targets
0.31Weak
jaw diseaseOpen Targets
0.27Weak
skin diseaseOpen Targets
0.25Weak
ProptosisOpen Targets
0.25Weak
Low back painOpen Targets
0.20Weak
mental or behavioural disorderOpen Targets
0.20Weak
SciaticaOpen Targets
0.20Weak
smoking initiationOpen Targets
0.20Weak
color vision disorderOpen Targets
0.20Weak
radiculitisOpen Targets
0.19Weak
muscular diseaseOpen Targets
0.19Weak
male reproductive organ cancerOpen Targets
0.18Weak
exostosisOpen Targets
0.18Weak
response to antihypertensive drugOpen Targets
0.17Weak
inborn disorder of amino acid metabolismOpen Targets
0.17Weak
HeadacheOpen Targets
0.04Suggestive
Abdominal painOpen Targets
0.04Suggestive
Limb painOpen Targets
0.04Suggestive
disease of peritoneumOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NXPH3Shared pathway100%GPR149Shared pathway100%RXFP4Shared pathway100%PTH2Shared pathway100%NPVFShared pathway100%GPR84Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Brain
44%
Bone Marrow
1%
Liver
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
NXPH2NXPH3GPR149RXFP4PTH2NPVFGPR84
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95156
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.25 [0.13–0.53]
RankingsWhere NXPH2 stands among ~20K protein-coding genes
  • #16,516of 20,598
    Most Researched12
  • #3,356of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedNXPH2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
Genomewide association study of HLA alloimmunization in previously pregnant blood donors.
PMID: 29168253
Transfusion · 2018
0.83
3
The detection of tumor location and lymph node metastasis by aberrant NXPH1 and NXPH2 expressions in pancreatic ductal adenocarcinomas.
PMID: 27817196
Chin J Physiol · 2016
0.67
4
Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.
PMID: 19304784
Hum Mol Genet · 2009
0.50
5
Gene-Based Burden Testing of Rare Variants in Hemiplegic Migraine: A Computational Approach to Uncover the Genetic Architecture of a Rare Brain Disorder.
PMID: 40725463
Genes (Basel) · 2025
0.33