Aliases for NXPH2 Gene

Aliases for NXPH2 Gene

  • Neurexophilin 2 2 3 5
  • NPH2 2 3 4
  • Neurexophilin-2 3 4
  • NXPH2 5

External Ids for NXPH2 Gene

Previous GeneCards Identifiers for NXPH2 Gene

  • GC02M137117
  • GC02M137736
  • GC02M139450
  • GC02M139639
  • GC02M139262
  • GC02M139144
  • GC02M131418

Summaries for NXPH2 Gene

GeneCards Summary for NXPH2 Gene

NXPH2 (Neurexophilin 2) is a Protein Coding gene. Diseases associated with NXPH2 include Meier-Gorlin Syndrome 2 and Epilepsy, Idiopathic Generalized 9. An important paralog of this gene is NXPH1.

UniProtKB/Swiss-Prot Summary for NXPH2 Gene

  • May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NXPH2 Gene

Genomics for NXPH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NXPH2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J138780 Promoter 1.5 EPDnew Ensembl CraniofacialAtlas 250.7 +0.5 489 2.2 ZNF600 ZNF10 ZNF843 ZBTB48 ZNF2 TAF1 CBX2 CHD1 GLIS1 CTCF NXPH2 piR-33614-162 SPOPL
GH02J138707 Enhancer 0.9 FANTOM5 Ensembl ENCODE 19 +72.2 72189 2.8 JUND ATF3 FEZF1 FOXA2 FOSL2 HLF FOXK2 FOS CEBPB NR2F2 NXPH2 HSALNG0019183 HSALNG0019181 SPOPL
GH02J138777 Enhancer 0.7 ENCODE 0.7 +2.2 2195 0.5 POLR2A FEZF1 SIN3A FOXA2 YY1 TEAD3 TCF7L2 FOXP1 SOX5 FOXA1 NXPH2 piR-33614-162 SPOPL
GH02J138778 Enhancer 0.4 Ensembl 0.7 +4.3 4289 0.2 MAFK MAFG MAFF NXPH2 piR-33614-162 SPOPL
GH02J138814 Enhancer 0.7 Ensembl ENCODE 0.3 -34.0 -34010 3.2 ZIC2 CTCF FOXA2 FOXA1 RAD21 NFIB SMC3 FOXA3 HNMT HSALNG0019184 NXPH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NXPH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NXPH2

Top Transcription factor binding sites by QIAGEN in the NXPH2 gene promoter:
  • aMEF-2
  • Evi-1
  • ITF-2
  • MEF-2A
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • Pax-4a
  • Tal-1beta

Genomic Locations for NXPH2 Gene

Latest Assembly
111,234 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
111,234 bases
Minus strand

(GRCh37/hg19 by Ensembl)
109,577 bases
Minus strand

Genomic View for NXPH2 Gene

Genes around NXPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NXPH2 Gene

Proteins for NXPH2 Gene

  • Protein details for NXPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B7WP24
    • Q494R1
    • Q75QC3

    Protein attributes for NXPH2 Gene

    264 amino acids
    Molecular mass:
    29938 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NXPH2 Gene

Post-translational modifications for NXPH2 Gene

  • May be proteolytically processed at the boundary between the N-terminal non-conserved and the central conserved domain in neuron-like cells.
  • Glycosylation at Asn86, Asn139, Asn149, and Asn155
  • Modification sites at PhosphoSitePlus

Other Protein References for NXPH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NXPH2 Gene

Domains & Families for NXPH2 Gene

Gene Families for NXPH2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for NXPH2 Gene

  • Neurexophilin

Suggested Antigen Peptide Sequences for NXPH2 Gene

GenScript: Design optimal peptide antigens:
  • Neurexophilin-2 (NXPH2_HUMAN)
  • Neurexophilin 2 (Q494R3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the neurexophilin family.
  • Belongs to the neurexophilin family.
genes like me logo Genes that share domains with NXPH2: view

Function for NXPH2 Gene

Molecular function for NXPH2 Gene

UniProtKB/Swiss-Prot Function:
May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.

Phenotypes From GWAS Catalog for NXPH2 Gene

Gene Ontology (GO) - Molecular Function for NXPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005102 signaling receptor binding IBA 21873635
genes like me logo Genes that share ontologies with NXPH2: view
genes like me logo Genes that share phenotypes with NXPH2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for NXPH2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXPH2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NXPH2 Gene

Localization for NXPH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXPH2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NXPH2 gene
Compartment Confidence
extracellular 4
nucleus 1
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for NXPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with NXPH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NXPH2 Gene

Pathways & Interactions for NXPH2 Gene

PathCards logo

SuperPathways for NXPH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NXPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007218 neuropeptide signaling pathway NAS 9570794
genes like me logo Genes that share ontologies with NXPH2: view

No data available for Pathways by source and SIGNOR curated interactions for NXPH2 Gene

Drugs & Compounds for NXPH2 Gene

No Compound Related Data Available

Transcripts for NXPH2 Gene

mRNA/cDNA for NXPH2 Gene

6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXPH2

Alternative Splicing Database (ASD) splice patterns (SP) for NXPH2 Gene

No ASD Table

Relevant External Links for NXPH2 Gene

GeneLoc Exon Structure for

Expression for NXPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NXPH2 Gene

mRNA differential expression in normal tissues according to GTEx for NXPH2 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x9.0), Brain - Frontal Cortex (BA9) (x7.5), and Ovary (x6.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NXPH2

SOURCE GeneReport for Unigene cluster for NXPH2 Gene:


mRNA Expression by UniProt/SwissProt for NXPH2 Gene:

Tissue specificity: Expressed in brain and kidney.
genes like me logo Genes that share expression patterns with NXPH2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXPH2 Gene

Orthologs for NXPH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NXPH2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NXPH2 29 30
  • 99.87 (n)
(Monodelphis domestica)
Mammalia NXPH2 30
  • 94 (a)
(Canis familiaris)
Mammalia NXPH2 29 30
  • 92.38 (n)
(Bos Taurus)
Mammalia NXPH2 29 30
  • 92.3 (n)
(Mus musculus)
Mammalia Nxph2 29 16 30
  • 85.06 (n)
(Rattus norvegicus)
Mammalia Nxph2 29
  • 84.56 (n)
(Ornithorhynchus anatinus)
Mammalia NXPH2 30
  • 73 (a)
(Gallus gallus)
Aves NXPH2 29 30
  • 80.93 (n)
(Anolis carolinensis)
Reptilia NXPH2 30
  • 84 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nxph2 29
  • 73.38 (n)
(Danio rerio)
Actinopterygii nxph2a 29 30
  • 66.93 (n)
Species where no ortholog for NXPH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NXPH2 Gene

Gene Tree for NXPH2 (if available)
Gene Tree for NXPH2 (if available)
Evolutionary constrained regions (ECRs) for NXPH2: view image
Alliance of Genome Resources:
Additional Orthologs for NXPH2

Paralogs for NXPH2 Gene

Paralogs for NXPH2 Gene

(4) SIMAP similar genes for NXPH2 Gene using alignment to 2 proteins:

  • Q494R3_HUMAN
genes like me logo Genes that share paralogs with NXPH2: view

Variants for NXPH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NXPH2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs79948626 Benign: not provided 138,671,153(-) G/A
NM_007226.3(NXPH2):c.564C>T (p.Arg188=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NXPH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NXPH2 Gene

Variant ID Type Subtype PubMed ID
esv3412361 CNV insertion 20981092
nsv524273 CNV gain 19592680
nsv525196 CNV loss 19592680
nsv7329 OTHER inversion 18451855

Variation tolerance for NXPH2 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXPH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXPH2 Gene

Disorders for NXPH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NXPH2 Gene - From: COP

Disorder Aliases PubMed IDs
meier-gorlin syndrome 2
  • mgors2
epilepsy, idiopathic generalized 9
  • epilepsy, idiopathic generalized, susceptibility to, 9
nemaline myopathy 2
  • nem2
- elite association - COSMIC cancer census association via MalaCards
Search NXPH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NXPH2

genes like me logo Genes that share disorders with NXPH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NXPH2 Gene

Publications for NXPH2 Gene

  1. Neurexophilins form a conserved family of neuropeptide-like glycoproteins. (PMID: 9570794) Missler M … Südhof TC (The Journal of neuroscience : the official journal of the Society for Neuroscience 1998) 2 3 4
  2. Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. (PMID: 21956439) Zuo L … Luo X (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2012) 3 40
  3. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. (PMID: 19478329) Aston KI … Carrell DT (Journal of andrology 2009) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for NXPH2 Gene

Sources for NXPH2 Gene