Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SNX3 Gene

Aliases for SNX3 Gene

  • Sorting Nexin 3 2 3 5
  • Sorting Nexin 3A 3
  • Protein SDP3 4
  • MCOPS8 3
  • Grd19 3
  • SDP3 3

External Ids for SNX3 Gene

Previous GeneCards Identifiers for SNX3 Gene

  • GC06M108382
  • GC06M108555
  • GC06M108578
  • GC06M108639
  • GC06M106100

Summaries for SNX3 Gene

Entrez Gene Summary for SNX3 Gene

  • This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

GeneCards Summary for SNX3 Gene

SNX3 (Sorting Nexin 3) is a Protein Coding gene. Diseases associated with SNX3 include microphthalmia, syndromic 8 and microphthalmia. Among its related pathways are Signaling by GPCR and Endocytosis. GO annotations related to this gene include phosphatidylinositol binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is SNX10.

UniProtKB/Swiss-Prot for SNX3 Gene

  • Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway (PubMed:21725319, PubMed:24344282). Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Involved in the regulation of phagocytosis in dendritic cells possibly by regulating EEA1 recruitment to the nascent phagosomes (PubMed:23237080). Involved in iron homeostasis through regulation of endocytic recycling of the transferrin receptor TFRC presumably by delivering the tranferrin:transferrin receptor complex to recycling endosomes; the function may involve the CSC retromer subcomplex (By similarity). In the case of Salmonella enterica infection plays arole in maturation of the Salmonella-containing vacuole (SCV) and promotes recruitment of LAMP1 to SCVs (PubMed:20482551).

Gene Wiki entry for SNX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX3 Gene

Genomics for SNX3 Gene

Regulatory Elements for SNX3 Gene

Promoters for SNX3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNX3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SNX3 Gene

Chromosome:
6
Start:
108,211,217 bp from pter
End:
108,261,260 bp from pter
Size:
50,044 bases
Orientation:
Minus strand

Genomic View for SNX3 Gene

Genes around SNX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX3 Gene

Proteins for SNX3 Gene

  • Protein details for SNX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60493-SNX3_HUMAN
    Recommended name:
    Sorting nexin-3
    Protein Accession:
    O60493
    Secondary Accessions:
    • A8K0B1
    • E1P5E4
    • E1P5E5
    • O60718
    • Q4TT29
    • Q4TT31
    • Q5JXJ7
    • Q5JXJ8
    • Q96AP9
    • Q9C0J5
    • Q9NU45

    Protein attributes for SNX3 Gene

    Size:
    162 amino acids
    Molecular mass:
    18762 Da
    Quaternary structure:
    • Interacts with VPS26A, VPS29 and VPS35; the interaction with VPS35 is direct. The association with the retromer CSC subcomplex subunits is proposed to represent a functional distinct retromer variant described as SNX3-retromer complex (PubMed:21725319, PubMed:24344282). Interacts with USP10 and SCNN1A (By similarity). Interacts with TRFC (By similarity). Interacts with SNX8; 2 molecules of SNX8 seems to associate with one molecule of SNX3 (PubMed:24866125). Interacts with PTPRU (PubMed:17622474).

    Three dimensional structures from OCA and Proteopedia for SNX3 Gene

    Alternative splice isoforms for SNX3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX3 Gene

Proteomics data for SNX3 Gene at MOPED

Post-translational modifications for SNX3 Gene

  • Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10 (By similarity).
  • Ubiquitination at Lys 95, Lys 119, and Lys 128
  • Modification sites at PhosphoSitePlus

Other Protein References for SNX3 Gene

Antibody Products

No data available for DME Specific Peptides for SNX3 Gene

Domains & Families for SNX3 Gene

Gene Families for SNX3 Gene

Protein Domains for SNX3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SNX3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60493

UniProtKB/Swiss-Prot:

SNX3_HUMAN :
  • The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)).
  • Belongs to the sorting nexin family.
Domain:
  • The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)).
  • Contains 1 PX (phox homology) domain.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX3: view

Function for SNX3 Gene

Molecular function for SNX3 Gene

UniProtKB/Swiss-Prot Function:
Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway (PubMed:21725319, PubMed:24344282). Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Involved in the regulation of phagocytosis in dendritic cells possibly by regulating EEA1 recruitment to the nascent phagosomes (PubMed:23237080). Involved in iron homeostasis through regulation of endocytic recycling of the transferrin receptor TFRC presumably by delivering the tranferrin:transferrin receptor complex to recycling endosomes; the function may involve the CSC retromer subcomplex (By similarity). In the case of Salmonella enterica infection plays arole in maturation of the Salmonella-containing vacuole (SCV) and promotes recruitment of LAMP1 to SCVs (PubMed:20482551).
genes like me logo Genes that share phenotypes with SNX3: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNX3 Gene

Localization for SNX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX3 Gene

Early endosome. Cytoplasmic vesicle, phagosome. Note=Colocalizes to clathrin-coated endosomal vesicles morphologically distinct from retromer-decorated non-branched endosomal tubule structures (PubMed:21725319) Colocalizes with EEA1 on nascent phagosomes in dendritic cells but competes with EEA1 for binding to phagosomal membrane (PubMed:23237080). In the case of Salmonella enterica infection localizes to Salmonella-containing vacuoles (SCVs) from which SNX3-containing tubules form 30-60 min after infection (PubMed:20482551). {ECO:0000269 PubMed:20482551, ECO:0000269 PubMed:21725319, ECO:0000269 PubMed:23237080}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNX3 Gene COMPARTMENTS Subcellular localization image for SNX3 gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
golgi apparatus 2
nucleus 2
vacuole 2
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SNX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 11433298
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SNX3: view

Pathways & Interactions for SNX3 Gene

genes like me logo Genes that share pathways with SNX3: view

Pathways by source for SNX3 Gene

1 KEGG pathway for SNX3 Gene

Gene Ontology (GO) - Biological Process for SNX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009617 response to bacterium IDA 20482551
GO:0030111 regulation of Wnt signaling pathway IMP 21725319
GO:0042177 negative regulation of protein catabolic process IDA 18767904
GO:0046597 negative regulation of viral entry into host cell IDA 18767904
GO:0051224 negative regulation of protein transport IDA 18767904
genes like me logo Genes that share ontologies with SNX3: view

No data available for SIGNOR curated interactions for SNX3 Gene

Drugs & Compounds for SNX3 Gene

(1) Drugs for SNX3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S,S-(2-Hydroxyethyl)Thiocysteine Experimental Pharma Target 0
genes like me logo Genes that share compounds with SNX3: view

Transcripts for SNX3 Gene

Unigene Clusters for SNX3 Gene

Sorting nexin 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNX3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: -
SP2: -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - -

Relevant External Links for SNX3 Gene

GeneLoc Exon Structure for
SNX3
ECgene alternative splicing isoforms for
SNX3

Expression for SNX3 Gene

mRNA expression in normal human tissues for SNX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNX3 Gene



SOURCE GeneReport for Unigene cluster for SNX3 Gene Hs.12102

genes like me logo Genes that share expression patterns with SNX3: view

Protein tissue co-expression partners for SNX3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SNX3 Gene

Orthologs for SNX3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SNX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX3 36
  • 100 (a)
OneToOne
SNX3 35
  • 99.59 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia SNX3 36
  • 100 (a)
OneToOne
SNX3 35
  • 93.83 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia SNX3 35
  • 94.44 (n)
  • 100 (a)
SNX3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snx3 16
Snx3 35
  • 93.42 (n)
  • 100 (a)
Snx3 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNX3 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX3 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snx3 35
  • 92.39 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves SNX3 35
  • 83.33 (n)
  • 93.83 (a)
SNX3 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNX3 36
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68580 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75986 35
snx3 35
  • 80.86 (n)
  • 90.74 (a)
zebrafish
(Danio rerio)
Actinopterygii snx3 35
  • 74.28 (n)
  • 88.27 (a)
snx3 36
  • 88 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Snx3 36
  • 68 (a)
OneToMany
CG6359 37
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea snx-3 36
  • 67 (a)
OneToMany
W06D4.5 37
  • 66 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR390C 35
  • 49.11 (n)
  • 45.8 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNX3 35
  • 53.55 (n)
  • 51.64 (a)
SNX3 36
  • 39 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03718g 35
  • 49.02 (n)
  • 49.26 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01914 35
  • 52.53 (n)
  • 55.3 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes snx3 35
  • 52.85 (n)
  • 58.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4323 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToMany
Species with no ortholog for SNX3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 SNX3 Gene

ENSEMBL:
Gene Tree for SNX3 (if available)
TreeFam:
Gene Tree for SNX3 (if available)

Paralogs for SNX3 Gene

Paralogs for SNX3 Gene

(6) SIMAP similar genes for SNX3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for SNX3 Gene

genes like me logo Genes that share paralogs with SNX3: view

Variants for SNX3 Gene

Sequence variations from dbSNP and Humsavar for SNX3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs15321 -- 108,211,587(+) TATAA(A/T)TTTGN utr-variant-3-prime
rs217125 -- 108,239,508(-) ATAGT(G/T)TCTAC intron-variant
rs217126 -- 108,239,095(-) cgaaa(A/C/T)cccgt intron-variant
rs217127 -- 108,221,496(+) CCAAA(C/T)GAGGA intron-variant
rs217128 -- 108,220,919(+) gaggt(G/T)gcagt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNX3 Gene

Variant ID Type Subtype PubMed ID
nsv830766 CNV Loss 17160897
esv2657747 CNV Deletion 23128226

Variation tolerance for SNX3 Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNX3 Gene

HapMap Linkage Disequilibrium report
SNX3
Human Gene Mutation Database (HGMD)
SNX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX3 Gene

Disorders for SNX3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNX3 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, syndromic 8
  • microphthalmia syndromic 8
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search SNX3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SNX3_HUMAN
  • Microphthalmia, syndromic, 8 (MCOPS8) [MIM:601349]: A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269 PubMed:12471201}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving SNX3 has been found in patients with syndromic microphthalmia. Translocation t(6;13)(q21;q12).

Relevant External Links for SNX3

Genetic Association Database (GAD)
SNX3
Human Genome Epidemiology (HuGE) Navigator
SNX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNX3
genes like me logo Genes that share disorders with SNX3: view

No data available for Genatlas for SNX3 Gene

Publications for SNX3 Gene

  1. Identification of a family of sorting nexin molecules and characterization of their association with receptors. (PMID: 9819414) Haft C.R. … Taylor S.I. (Mol. Cell. Biol. 1998) 2 3 4 23 67
  2. Vasopressin-inducible ubiquitin-specific protease 10 increases ENaC cell surface expression by deubiquitylating and stabilizing sorting nexin 3. (PMID: 18632802) Boulkroun S. … Staub O. (Am. J. Physiol. 2008) 3 23
  3. Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. (PMID: 17655765) Kumar R.A. … Simpson E.M. (BMC Med. Genet. 2007) 3 23
  4. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. (PMID: 12471201) Vervoort V.S. … Schwartz C.E. (J. Med. Genet. 2002) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SNX3 Gene

Sources for SNX3 Gene

Back to Top

Content