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Aliases for NAV3 Gene

Aliases for NAV3 Gene

  • Neuron Navigator 3 2 3 5
  • Pore Membrane And/Or Filament Interacting Like Protein 1 2 3
  • Unc-53 Homolog 3 3 4
  • STEERIN3 3 4
  • POMFIL1 3 4
  • Unc53H3 3 4
  • Pore Membrane And/Or Filament-Interacting-Like Protein 1 4
  • Steerin 3 2
  • Steerin-3 4
  • KIAA0938 4

External Ids for NAV3 Gene

Previous GeneCards Identifiers for NAV3 Gene

  • GC12P078250
  • GC12P078567
  • GC12P076727
  • GC12P075278
  • GC12P077571

Summaries for NAV3 Gene

Entrez Gene Summary for NAV3 Gene

  • This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for NAV3 Gene

NAV3 (Neuron Navigator 3) is a Protein Coding gene. Diseases associated with NAV3 include Subcutaneous Panniculitis-Like T-Cell Lymphoma. An important paralog of this gene is NAV2.

UniProtKB/Swiss-Prot for NAV3 Gene

  • May regulate IL2 production by T-cells. May be involved in neuron regeneration.

Additional gene information for NAV3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAV3 Gene

Genomics for NAV3 Gene

Regulatory Elements for NAV3 Gene

Enhancers for NAV3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H077925 1.1 Ensembl ENCODE 4.6 +601.0 600998 0 HDGF TBL1XR1 RB1 FEZF1 ZNF2 RAD21 ZNF143 ZNF207 RCOR1 ZNF391 NAV3 GC12M077846 ENSG00000258225
GH12H077939 0.9 Ensembl ENCODE 4.3 +617.1 617130 5 JUN HLF CEBPB EP300 ATF2 JUND POLR2A STAT3 FOS MAFK NAV3 GC12M077846 ENSG00000258225
GH12H077995 0.8 ENCODE 4.7 +671.0 671014 0 PKNOX1 BACH1 BMI1 BATF RELA EED FOS ATF7 ETV6 RUNX3 NAV3 ENSG00000258225 GC12M077846
GH12H077920 0.3 FANTOM5 11.3 +596.3 596288 0 NAV3 GC12M077846 ENSG00000258225
GH12H077888 0.5 ENCODE 4.6 +564.1 564145 0 FOSL1 JUND JUN FOS NAV3 GC12M077846 ENSG00000258225
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NAV3 on UCSC Golden Path with GeneCards custom track

Promoters for NAV3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054289 560 1599 CTCF TFAP4 MXI1 RB1 SIN3A ZIC2 RAD21 TEAD3 E2F1 GATA3

Genomic Location for NAV3 Gene

Chromosome:
12
Start:
77,324,641 bp from pter
End:
78,213,012 bp from pter
Size:
888,372 bases
Orientation:
Plus strand

Genomic View for NAV3 Gene

Genes around NAV3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAV3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAV3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAV3 Gene

Proteins for NAV3 Gene

  • Protein details for NAV3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVL0-NAV3_HUMAN
    Recommended name:
    Neuron navigator 3
    Protein Accession:
    Q8IVL0
    Secondary Accessions:
    • Q8NFW7
    • Q9Y2E7

    Protein attributes for NAV3 Gene

    Size:
    2385 amino acids
    Molecular mass:
    255648 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NAV3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAV3 Gene

Post-translational modifications for NAV3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NAV3 Gene

Domains & Families for NAV3 Gene

Gene Families for NAV3 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NAV3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IVL0

UniProtKB/Swiss-Prot:

NAV3_HUMAN :
  • Belongs to the Nav/unc-53 family.
Family:
  • Belongs to the Nav/unc-53 family.
genes like me logo Genes that share domains with NAV3: view

Function for NAV3 Gene

Molecular function for NAV3 Gene

UniProtKB/Swiss-Prot Function:
May regulate IL2 production by T-cells. May be involved in neuron regeneration.

Phenotypes From GWAS Catalog for NAV3 Gene

Gene Ontology (GO) - Molecular Function for NAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NAV3: view
genes like me logo Genes that share phenotypes with NAV3: view

Animal Model Products

CRISPR Products

miRNA for NAV3 Gene

miRTarBase miRNAs that target NAV3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NAV3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAV3 Gene

Localization for NAV3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAV3 Gene

Nucleus outer membrane.

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 NAV3 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NAV3: view

Pathways & Interactions for NAV3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032703 negative regulation of interleukin-2 production IMP 16166283
genes like me logo Genes that share ontologies with NAV3: view

No data available for Pathways by source and SIGNOR curated interactions for NAV3 Gene

Drugs & Compounds for NAV3 Gene

No Compound Related Data Available

Transcripts for NAV3 Gene

Unigene Clusters for NAV3 Gene

Neuron navigator 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NAV3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NAV3 Gene

No ASD Table

Relevant External Links for NAV3 Gene

GeneLoc Exon Structure for
NAV3
ECgene alternative splicing isoforms for
NAV3

Expression for NAV3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAV3 Gene

Protein differential expression in normal tissues from HIPED for NAV3 Gene

This gene is overexpressed in Breast (30.3), Cervix (20.3), and Brain (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAV3 Gene



Protein tissue co-expression partners for NAV3 Gene

NURSA nuclear receptor signaling pathways regulating expression of NAV3 Gene:

NAV3

SOURCE GeneReport for Unigene cluster for NAV3 Gene:

Hs.655301

mRNA Expression by UniProt/SwissProt for NAV3 Gene:

Q8IVL0-NAV3_HUMAN
Tissue specificity: Highly expressed in brain. Expressed at low levels in heart and placenta. Present in activated T-cells but not in resting T-cells (at protein level). Down-regulated in primary neuroblastoma.

Evidence on tissue expression from TISSUES for NAV3 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with NAV3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAV3 Gene

Orthologs for NAV3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NAV3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAV3 34 33
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NAV3 34 33
  • 91.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAV3 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NAV3 33 34
  • 90.96 (n)
mouse
(Mus musculus)
Mammalia Nav3 33 16 34
  • 87.67 (n)
rat
(Rattus norvegicus)
Mammalia Nav3 33
  • 87.38 (n)
chicken
(Gallus gallus)
Aves NAV3 33 34
  • 81.35 (n)
lizard
(Anolis carolinensis)
Reptilia NAV3 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nav3 33
  • 75.63 (n)
zebrafish
(Danio rerio)
Actinopterygii nav3 33 34
  • 66.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta sick 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-53 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for NAV3 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)
  • 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)
  • 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 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)

Evolution for NAV3 Gene

ENSEMBL:
Gene Tree for NAV3 (if available)
TreeFam:
Gene Tree for NAV3 (if available)

Paralogs for NAV3 Gene

Paralogs for NAV3 Gene

genes like me logo Genes that share paralogs with NAV3: view

Variants for NAV3 Gene

Sequence variations from dbSNP and Humsavar for NAV3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000004974 -- 77,584,355(+) TTTAA(C/T)AAAAG intron-variant
rs1000011581 -- 77,592,421(+) GGTTT(C/T)ACCTA intron-variant
rs1000013285 -- 77,712,568(+) ATATC(C/T)TAACC intron-variant
rs1000017086 -- 77,830,782(+) TAAAA(G/T)TTCTT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000017608 -- 78,024,026(+) TGATT(A/G)TATAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NAV3 Gene

Variant ID Type Subtype PubMed ID
dgv206n27 CNV loss 19166990
dgv2721n54 CNV loss 21841781
dgv2722n54 CNV loss 21841781
dgv297n67 CNV loss 20364138
dgv835n106 CNV deletion 24896259
dgv836n106 OTHER inversion 24896259
esv2199986 CNV deletion 18987734
esv2607464 CNV loss 19546169
esv2611482 CNV insertion 19546169
esv2669115 CNV deletion 23128226
esv2746095 CNV deletion 23290073
esv2746096 CNV deletion 23290073
esv2746098 CNV deletion 23290073
esv2931 CNV loss 18987735
esv3362906 CNV insertion 20981092
esv3549448 CNV deletion 23714750
esv6891 CNV gain 19470904
nsv1035462 CNV gain 25217958
nsv1052327 CNV gain 25217958
nsv1128668 CNV duplication 24896259
nsv1150776 OTHER inversion 26484159
nsv469481 CNV loss 19166990
nsv469485 CNV loss 19166990
nsv507656 OTHER sequence alteration 20534489
nsv518576 CNV loss 19592680
nsv559429 CNV loss 21841781
nsv559430 CNV loss 21841781
nsv559431 CNV loss 21841781
nsv781 CNV insertion 18451855
nsv826443 CNV gain 20364138

Variation tolerance for NAV3 Gene

Residual Variation Intolerance Score: 0.307% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.87; 67.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAV3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAV3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAV3 Gene

Disorders for NAV3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NAV3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
subcutaneous panniculitis-like t-cell lymphoma
  • sptcl
- elite association - COSMIC cancer census association via MalaCards
Search NAV3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAV3_HUMAN
  • Note=A chromosomal aberration disrupting NAV3 has been found in patients with Sezary syndrome (PubMed:16166283). Translocation t(12;18)(q21;q21.2) (PubMed:16166283). {ECO:0000269 PubMed:16166283}.

Relevant External Links for NAV3

Genetic Association Database (GAD)
NAV3
Human Genome Epidemiology (HuGE) Navigator
NAV3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAV3
genes like me logo Genes that share disorders with NAV3: view

No data available for Genatlas for NAV3 Gene

Publications for NAV3 Gene

  1. Primary cutaneous T-cell lymphomas show a deletion or translocation affecting NAV3, the human UNC-53 homologue. (PMID: 16166283) Karenko L … Ranki A (Cancer research 2005) 3 4 22 60
  2. Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. (PMID: 12079279) Maes T … Buesa C (Genomics 2002) 2 3 4 60
  3. Pore membrane and/or filament interacting like protein 1 (POMFIL1) is predominantly expressed in the nervous system and encodes different protein isoforms. (PMID: 12062803) Coy JF … Poustka A (Gene 2002) 2 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for NAV3 Gene

Sources for NAV3 Gene

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