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Aliases for NXPH4 Gene

Aliases for NXPH4 Gene

  • Neurexophilin 4 2 3 5
  • NPH4 3 4
  • Alternative Protein NXPH4 3
  • Neurexophilin-4 3

External Ids for NXPH4 Gene

Previous GeneCards Identifiers for NXPH4 Gene

  • GC00U990505
  • GC12U900046
  • GC12P057327
  • GC12P055896
  • GC12P057610
  • GC12P054657

Summaries for NXPH4 Gene

GeneCards Summary for NXPH4 Gene

NXPH4 (Neurexophilin 4) is a Protein Coding gene. Diseases associated with NXPH4 include Joubert Syndrome 1. An important paralog of this gene is NXPH2.

UniProtKB/Swiss-Prot for NXPH4 Gene

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

Additional gene information for NXPH4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NXPH4 Gene

Genomics for NXPH4 Gene

GeneHancer (GH) Regulatory Elements for NXPH4 Gene

Promoters and enhancers for NXPH4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I057216 Promoter 1.6 EPDnew Ensembl 550.8 -0.1 -94 0.6 CTCF ESRRA KLF1 RB1 ZNF449 SUZ12 KLF17 ZNF48 ZEB1 ZNF335 NXPH4 ENSG00000224713 MIR1228
GH12I057217 Enhancer 0.8 ENCODE 550.8 +0.8 758 0.1 ZSCAN4 KLF17 ZNF2 ZEB1 ZNF335 GLIS2 EGR1 ZNF366 SCRT2 EGR2 NXPH4 CNPY2 GC12P057225
GH12I057218 Enhancer 0.8 ENCODE 550.8 +0.6 568 0.1 ZSCAN4 KLF17 ZNF2 ZEB1 ZNF335 GLIS2 ZNF366 EGR1 ZNF391 EGR2 NXPH4 CNPY2 GC12P057225
GH12I057219 Enhancer 0.8 ENCODE 550.8 -0.9 -932 0.2 HDGF HDAC1 ZSCAN4 ZNF76 RFX5 ZNF335 GLIS2 ZNF366 SCRT2 ZNF143 NXPH4 PRIM1 BAZ2A MIR1228
GH12I057220 Enhancer 0.8 ENCODE 550.8 +0.8 848 0 SUZ12 ZSCAN4 KLF17 ZNF2 ZEB1 HIC1 GLIS2 EGR1 ZBTB48 ZNF366 NXPH4 DTX3 ANKRD52 ENSG00000257740 NAB2 TSPAN31 GC12P057225
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NXPH4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NXPH4 gene promoter:

Genomic Locations for NXPH4 Gene

Genomic Locations for NXPH4 Gene
chr12:57,216,795-57,226,449
(GRCh38/hg38)
Size:
9,655 bases
Orientation:
Plus strand
chr12:57,610,578-57,620,232
(GRCh37/hg19)

Genomic View for NXPH4 Gene

Genes around NXPH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXPH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXPH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NXPH4 Gene

Proteins for NXPH4 Gene

  • Protein details for NXPH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95158-NXPH4_HUMAN
    Recommended name:
    Neurexophilin-4
    Protein Accession:
    O95158
    Secondary Accessions:
    • A8K4I4
    • Q7Z6L3
    • Q8N462

    Protein attributes for NXPH4 Gene

    Size:
    308 amino acids
    Molecular mass:
    33065 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NXPH4 Gene

Post-translational modifications for NXPH4 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 Asn72, Asn133, isoforms=143, and isoforms=149

Other Protein References for NXPH4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NXPH4 Gene

Domains & Families for NXPH4 Gene

Gene Families for NXPH4 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for NXPH4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NXPH4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95158

UniProtKB/Swiss-Prot:

NXPH4_HUMAN :
  • Belongs to the neurexophilin family.
Family:
  • Belongs to the neurexophilin family.
genes like me logo Genes that share domains with NXPH4: view

Function for NXPH4 Gene

Molecular function for NXPH4 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 NXPH4 Gene

Gene Ontology (GO) - Molecular Function for NXPH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005102 receptor binding IBA --
genes like me logo Genes that share ontologies with NXPH4: view
genes like me logo Genes that share phenotypes with NXPH4: view

Animal Models for NXPH4 Gene

MGI Knock Outs for NXPH4:

miRNA for NXPH4 Gene

miRTarBase miRNAs that target NXPH4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NXPH4 Gene

Localization for NXPH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXPH4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 NXPH4 gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NXPH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with NXPH4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NXPH4 Gene

Pathways & Interactions for NXPH4 Gene

SuperPathways for NXPH4 Gene

No Data Available

Interacting Proteins for NXPH4 Gene

Gene Ontology (GO) - Biological Process for NXPH4 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 NXPH4: view

No data available for Pathways by source and SIGNOR curated interactions for NXPH4 Gene

Drugs & Compounds for NXPH4 Gene

No Compound Related Data Available

Transcripts for NXPH4 Gene

Unigene Clusters for NXPH4 Gene

Neurexophilin 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NXPH4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b
SP1: -
SP2: - -
SP3: -

Relevant External Links for NXPH4 Gene

GeneLoc Exon Structure for
NXPH4
ECgene alternative splicing isoforms for
NXPH4

Expression for NXPH4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NXPH4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NXPH4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x8.3), Skin - Sun Exposed (Lower leg) (x6.8), Brain - Cerebellum (x6.3), and Brain - Cerebellar Hemisphere (x6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NXPH4 Gene



NURSA nuclear receptor signaling pathways regulating expression of NXPH4 Gene:

NXPH4

SOURCE GeneReport for Unigene cluster for NXPH4 Gene:

Hs.745023

mRNA Expression by UniProt/SwissProt for NXPH4 Gene:

O95158-NXPH4_HUMAN
Tissue specificity: Expressed in brain, spleen, and testis.

Evidence on tissue expression from TISSUES for NXPH4 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NXPH4: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXPH4 Gene

Orthologs for NXPH4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NXPH4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NXPH4 33 34
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia NXPH4 33 34
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Nxph4 33 16 34
  • 86.84 (n)
rat
(Rattus norvegicus)
Mammalia Nxph4 33
  • 86.4 (n)
dog
(Canis familiaris)
Mammalia NXPH4 33 34
  • 86.16 (n)
oppossum
(Monodelphis domestica)
Mammalia NXPH4 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NXPH4 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii NXPH4 (2 of 2) 34
  • 54 (a)
OneToMany
NXPH4 (1 of 2) 34
  • 31 (a)
OneToMany
Species where no ortholog for NXPH4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NXPH4 Gene

ENSEMBL:
Gene Tree for NXPH4 (if available)
TreeFam:
Gene Tree for NXPH4 (if available)

Paralogs for NXPH4 Gene

Paralogs for NXPH4 Gene

(3) SIMAP similar genes for NXPH4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NXPH4: view

Variants for NXPH4 Gene

Sequence variations from dbSNP and Humsavar for NXPH4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000858428 -- 57,222,532(+) A/C/T intron_variant
rs1000960402 -- 57,215,859(+) C/A upstream_transcript_variant
rs1001031318 -- 57,221,430(+) GGGGGG/GGGGG intron_variant
rs1001360971 -- 57,222,106(+) C/T intron_variant
rs1001796876 -- 57,215,158(+) G/C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NXPH4 Gene

Variant ID Type Subtype PubMed ID
nsv952189 CNV deletion 24416366
nsv559023 CNV loss 21841781
nsv519293 CNV loss 19592680
nsv482992 CNV gain+loss 15286789
dgv96n21 CNV loss 19592680

Variation tolerance for NXPH4 Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXPH4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NXPH4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXPH4 Gene

Disorders for NXPH4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NXPH4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search NXPH4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NXPH4

genes like me logo Genes that share disorders with NXPH4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NXPH4 Gene

Publications for NXPH4 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  5. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58

Products for NXPH4 Gene

Sources for NXPH4 Gene

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