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Aliases for SNX3 Gene

Aliases for SNX3 Gene

  • Sorting Nexin 3 2 3
  • Sorting Nexin 3A 3
  • Sorting Nexin-3 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. Among its related pathways are Signaling by GPCR and beta-catenin independent WNT signaling. GO annotations related to this gene include protein phosphatase binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is SNX12.

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

Genomic Location for SNX3 Gene

Start:
108,211,222 bp from pter
End:
108,261,274 bp from pter
Size:
50,053 bases
Orientation:
Minus strand

Genomic View for SNX3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys61, Lys95, Lys119, and Lys128
  • Modification sites at PhosphoSitePlus

Other Protein References for SNX3 Gene

Antibody Products

No data available for DME Specific Peptides for SNX3 Gene

Domains for SNX3 Gene

Gene Families for SNX3 Gene

HGNC:
  • SNX :Sorting nexins

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 :
  • O60493
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).

Gene Ontology (GO) - Molecular Function for SNX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
GO:0010314 phosphatidylinositol-5-phosphate binding ISS --
GO:0019903 protein phosphatase binding IPI 17622474
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 11433298
GO:0035091 phosphatidylinositol binding --
genes like me logo Genes that share ontologies with SNX3: view

Phenotypes for SNX3 Gene

GenomeRNAi human phenotypes for SNX3:
genes like me logo Genes that share phenotypes with SNX3: view

Animal Model Products

miRNA for SNX3 Gene

miRTarBase miRNAs that target SNX3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNX3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
endosome 5
cytosol 3
nucleus 2
extracellular 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SNX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005769 early endosome IDA 11433298
GO:0005829 cytosol TAS --
GO:0010008 endosome membrane IDA 15673616
GO:0019898 extrinsic component of membrane IBA --
genes like me logo Genes that share ontologies with SNX3: view

Pathways for SNX3 Gene

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

Pathways by source for SNX3 Gene

Gene Ontology (GO) - Biological Process for SNX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport --
GO:0009617 response to bacterium IDA 20482551
GO:0010324 membrane invagination IDA 18767904
GO:0010976 positive regulation of neuron projection development ISS --
GO:0016050 vesicle organization IBA --
genes like me logo Genes that share ontologies with SNX3: view

Compounds for SNX3 Gene

(1) Drugbank Compounds for SNX3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
S,S-(2-Hydroxyethyl)Thiocysteine
target
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNX3

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 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 expressions with SNX3: view

Expression partners for SNX3 Gene

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
cow
(Bos Taurus)
Mammalia SNX3 35
  • 93.83 (n)
  • 100 (a)
SNX3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNX3 35
  • 94.44 (n)
  • 100 (a)
SNX3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snx3 35
  • 93.42 (n)
  • 100 (a)
Snx3 16
Snx3 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNX3 35
  • 99.59 (n)
  • 100 (a)
SNX3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snx3 35
  • 92.39 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia SNX3 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX3 36
  • 89 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75986 35
snx3 35
  • 80.86 (n)
  • 90.74 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68580 35
zebrafish
(Danio rerio)
Actinopterygii snx3 35
  • 74.28 (n)
  • 88.27 (a)
snx3 36
  • 88 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6359 37
  • 70 (a)
Snx3 36
  • 68 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W06D4.5 37
  • 66 (a)
snx-3 36
  • 67 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR390C 35
  • 49.11 (n)
  • 45.8 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03718g 35
  • 49.02 (n)
  • 49.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNX3 35
  • 53.55 (n)
  • 51.64 (a)
SNX3 36
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4323 35
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 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

Selected 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 MAF
rs15321 -- 108,211,587(+) TATAA(A/T)TTTGN utr-variant-3-prime
rs191967 -- 108,229,689(+) ACAGA(A/G)CTAGC intron-variant
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

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

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

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).

(2) University of Copenhagen DISEASES for SNX3 Gene

Relevant External Links for SNX3

Genetic Association Database (GAD)
SNX3
Human Genome Epidemiology (HuGE) Navigator
SNX3
genes like me logo Genes that share disorders with SNX3: view

No data available for MalaCards , OMIM , Novoseek inferred disease relationships and 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
  2. 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 4 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. 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
  5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K. … Vandekerckhove J. (Nat. Biotechnol. 2003) 3 4

Products for SNX3 Gene

Sources for SNX3 Gene

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