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Aliases for SNX2 Gene

Aliases for SNX2 Gene

  • Sorting Nexin 2 2 3 5
  • Transformation-Related Gene 9 Protein 3 4
  • TRG-9 3 4
  • Sorting Nexin-2 3
  • CTB-36H16.2 3

External Ids for SNX2 Gene

Previous GeneCards Identifiers for SNX2 Gene

  • GC05P121741
  • GC05P122437
  • GC05P122141
  • GC05P122186
  • GC05P122138
  • GC05P122110
  • GC05P117298

Summaries for SNX2 Gene

Entrez Gene Summary for SNX2 Gene

  • This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]

GeneCards Summary for SNX2 Gene

SNX2 (Sorting Nexin 2) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include phosphatidylinositol binding and epidermal growth factor receptor binding. An important paralog of this gene is SNX1.

UniProtKB/Swiss-Prot for SNX2 Gene

  • Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:16179610). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:17101778). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Required for retrograde endosome-to-TGN transport of TGN38 (PubMed:20138391). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901).

Gene Wiki entry for SNX2 Gene

Additional gene information for SNX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX2 Gene

Genomics for SNX2 Gene

Regulatory Elements for SNX2 Gene

Enhancers for SNX2 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
GH05H122696 1.4 Ensembl ENCODE dbSUPER 45.2 -77.9 -77935 1 ZNF493 ZFP64 ZNF121 ZNF138 ZNF354C KLF7 ZNF202 ZNF654 SP3 ZNF680 CEP120 CSNK1G3 SNX2 ENSG00000260686 ZNF474 SRFBP1 KRT8P33 LOX PRDM6 ARGFXP1
GH05H123088 1.2 ENCODE dbSUPER 40.3 +314.0 313962 1 ZSCAN4 ZNF76 KLF17 FEZF1 GLI4 ZNF2 GLIS2 ZNF366 KLF7 ZNF391 SNX2 KRT8P33 CEP120 LOC105379152 CSNK1G3 RN7SL711P
GH05H122773 1.3 ENCODE dbSUPER 35.3 +0.8 756 4 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SNX2 CEP120 CSNK1G3 SRFBP1 KRT8P33 LOX ENSG00000260686 PRDM6 PPIC RN7SL689P
GH05H123421 1.1 ENCODE 33.7 +648.0 648011 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 SNX2 KRT8P33 CEP120 CSNK1G3 PRDM6 PPIC
GH05H123510 1.1 ENCODE 24.9 +737.2 737219 2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CSNK1G3 CEP120 SNX2 HMGB3P17 PRDM6 KRT18P16
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNX2 on UCSC Golden Path with GeneCards custom track

Promoters for SNX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000185990 905 3000 HDGF FOXA2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for SNX2 Gene

Chromosome:
5
Start:
122,774,996 bp from pter
End:
122,834,539 bp from pter
Size:
59,544 bases
Orientation:
Plus strand

Genomic View for SNX2 Gene

Genes around SNX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX2 Gene

Proteins for SNX2 Gene

  • Protein details for SNX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60749-SNX2_HUMAN
    Recommended name:
    Sorting nexin-2
    Protein Accession:
    O60749
    Secondary Accessions:
    • B3KN44
    • B4DEK4
    • B7Z408
    • O43650
    • P82862
    • Q53XK8
    • Q597H6
    • Q9BTS8

    Protein attributes for SNX2 Gene

    Size:
    519 amino acids
    Molecular mass:
    58471 Da
    Quaternary structure:
    • Predominantly forms heterodimers with BAR domain-containing sorting nexins SNX5, SNX6 and SNX32; can self-associate to form homodimers (PubMed:23085988). The heterodimers are proposed to self-assemble into helical arrays on the membrane to stabilize and expand local membrane curvature underlying endosomal tubule formation. Thought to be a component of the originally described retromer complex (also called SNX-BAR retromer) which is a pentamer containing the heterotrimeric retromer cargo-selective complex (CSC), also descibed as vacuolar protein sorting subcomplex (VPS), and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity (Probable). Interacts with SNX5, SNX6, SNX32, VPS26A, VPS29, VPS35, FNBP1, KALRN, RHOG (GDP-bound form) (PubMed:11438682, PubMed:14596906, PubMed:17101778, PubMed:19935774., PubMed:19619496, PubMed:20604901, PubMed:23085988).

    Alternative splice isoforms for SNX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX2 Gene

Post-translational modifications for SNX2 Gene

  • Ubiquitination at isoforms=116 and isoforms=2248
  • Modification sites at PhosphoSitePlus

Other Protein References for SNX2 Gene

No data available for DME Specific Peptides for SNX2 Gene

Domains & Families for SNX2 Gene

Gene Families for SNX2 Gene

Protein Domains for SNX2 Gene

Suggested Antigen Peptide Sequences for SNX2 Gene

Graphical View of Domain Structure for InterPro Entry

O60749

UniProtKB/Swiss-Prot:

SNX2_HUMAN :
  • The BAR domain is able to sense membrane curvature upon dimerization. Membrane remodeling seems to implicate insertion of a N-terminal amphipatric helix (AH) in the membrane (Probable).
  • Belongs to the sorting nexin family.
Domain:
  • The BAR domain is able to sense membrane curvature upon dimerization. Membrane remodeling seems to implicate insertion of a N-terminal amphipatric helix (AH) in the membrane (Probable).
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX2: view

Function for SNX2 Gene

Molecular function for SNX2 Gene

UniProtKB/Swiss-Prot Function:
Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:16179610). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:17101778). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Required for retrograde endosome-to-TGN transport of TGN38 (PubMed:20138391). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901).

Phenotypes From GWAS Catalog for SNX2 Gene

Gene Ontology (GO) - Molecular Function for SNX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005154 epidermal growth factor receptor binding IDA 9819414
GO:0005158 insulin receptor binding IDA 9819414
GO:0005515 protein binding IPI 11278302
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding IBA --
genes like me logo Genes that share ontologies with SNX2: view
genes like me logo Genes that share phenotypes with SNX2: view

Animal Models for SNX2 Gene

MGI Knock Outs for SNX2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNX2
  • Applied Biological Materials Clones for SNX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNX2 Gene

Localization for SNX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX2 Gene

Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium. Note=Colocalized with SORT1 to tubular endosomal membrane structures called endosome-to-TGN transport carriers (ETCs) which are budding from early endosome vacuoles just before maturing into late endosome vacuoles (PubMed:18088323). Colocalized with F-actin at the leading edge of lamellipodia in cells in a KALRN-dependent manner (PubMed:20604901). {ECO:0000269 PubMed:18088323, ECO:0000269 PubMed:20604901}.

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 SNX2 gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 5
cytosol 4
nucleus 2
golgi apparatus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endosomes (4)
  • Lysosomes (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA 11279102
GO:0005764 lysosome IDA --
GO:0005768 endosome IEA,IDA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with SNX2: view

Pathways & Interactions for SNX2 Gene

genes like me logo Genes that share pathways with SNX2: view

Gene Ontology (GO) - Biological Process for SNX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis IBA --
GO:0015031 protein transport IEA --
GO:0016050 vesicle organization IBA --
genes like me logo Genes that share ontologies with SNX2: view

No data available for SIGNOR curated interactions for SNX2 Gene

Drugs & Compounds for SNX2 Gene

(1) Drugs for SNX2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SNX2: view

Transcripts for SNX2 Gene

Unigene Clusters for SNX2 Gene

Sorting nexin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNX2
  • Applied Biological Materials Clones for SNX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SNX2 Gene

No ASD Table

Relevant External Links for SNX2 Gene

GeneLoc Exon Structure for
SNX2
ECgene alternative splicing isoforms for
SNX2

Expression for SNX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNX2 Gene

This gene is overexpressed in Lymph node (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNX2 Gene



Protein tissue co-expression partners for SNX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNX2 Gene:

SNX2

SOURCE GeneReport for Unigene cluster for SNX2 Gene:

Hs.713554

Evidence on tissue expression from TISSUES for SNX2 Gene

  • Nervous system(4.8)
  • Intestine(4.5)
  • Liver(4.3)
  • Kidney(2.7)
  • Lung(2.4)
  • Spleen(2)
genes like me logo Genes that share expression patterns with SNX2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX2 Gene

Orthologs for SNX2 Gene

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

Orthologs for SNX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX2 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia SNX2 34 33
  • 96.19 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNX2 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNX2 34 33
  • 94.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snx2 33
  • 92.94 (n)
mouse
(Mus musculus)
Mammalia Snx2 16 34 33
  • 92.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNX2 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX2 33 34
  • 85.71 (n)
lizard
(Anolis carolinensis)
Reptilia SNX2 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx2 33
  • 78.69 (n)
Str.6438 33
African clawed frog
(Xenopus laevis)
Amphibia snx2-prov 33
zebrafish
(Danio rerio)
Actinopterygii snx2 33
  • 69.17 (n)
SNX2 34
  • 68 (a)
OneToOne
wufj81a03 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009255 33
  • 55.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta Snx1 33 34
  • 53.26 (n)
CG2774 35
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea snx-1 33 34
  • 46.97 (n)
C05D9.1 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNX4 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04137 33
  • 45.82 (n)
Species where no ortholog for SNX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 SNX2 Gene

ENSEMBL:
Gene Tree for SNX2 (if available)
TreeFam:
Gene Tree for SNX2 (if available)

Paralogs for SNX2 Gene

Paralogs for SNX2 Gene

(3) SIMAP similar genes for SNX2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SNX2 Gene

genes like me logo Genes that share paralogs with SNX2: view

Variants for SNX2 Gene

Sequence variations from dbSNP and Humsavar for SNX2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000056889 -- 122,834,829(+) GACCA(A/G)CTTGA intron-variant, downstream-variant-500B
rs1000144450 -- 122,775,951(+) GCTTG(A/C)TCAGC intron-variant
rs1000167897 -- 122,784,045(+) CTTTT(A/G)TTACT intron-variant
rs1000193567 -- 122,834,893(+) CTCAG(C/G)GTCAA intron-variant, downstream-variant-500B
rs1000194016 -- 122,792,456(+) GCTGG(A/G)TGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNX2 Gene

Variant ID Type Subtype PubMed ID
esv3606593 CNV loss 21293372
esv7893 CNV gain 19470904
nsv830471 CNV gain 17160897

Variation tolerance for SNX2 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNX2 Gene

Human Gene Mutation Database (HGMD)
SNX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX2 Gene

Disorders for SNX2 Gene

Relevant External Links for SNX2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNX2

No disorders were found for SNX2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SNX2 Gene

Publications for SNX2 Gene

  1. Identification of a family of sorting nexin molecules and characterization of their association with receptors. (PMID: 9819414) Haft CR … Taylor SI (Molecular and cellular biology 1998) 2 3 4 22 60
  2. Identification of different itineraries and retromer components for endosome-to-Golgi transport of TGN38 and Shiga toxin. (PMID: 20138391) Lieu ZZ … Gleeson PA (European journal of cell biology 2010) 3 4 22 60
  3. Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors. (PMID: 17101778) Rojas R … Bonifacino JS (Molecular and cellular biology 2007) 3 4 22 60
  4. The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia. (PMID: 11438682) Fuchs U … Borkhardt A (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 60
  5. A novel, retromer-independent role for sorting nexins 1 and 2 in RhoG-dependent membrane remodeling. (PMID: 20604901) Prosser DC … Ngsee JK (Traffic (Copenhagen, Denmark) 2010) 3 4 60

Products for SNX2 Gene

  • Addgene plasmids for SNX2

Sources for SNX2 Gene

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