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Aliases for SNX5 Gene

Aliases for SNX5 Gene

  • Sorting Nexin 5 2 3 5

External Ids for SNX5 Gene

Previous GeneCards Identifiers for SNX5 Gene

  • GC20M017910
  • GC20M017917
  • GC20M017870
  • GC20M017948
  • GC20M017950
  • GC20M017951
  • GC20M017953
  • GC20M017954
  • GC20M017955

Summaries for SNX5 Gene

Entrez Gene Summary for SNX5 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 functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

GeneCards Summary for SNX5 Gene

SNX5 (Sorting Nexin 5) is a Protein Coding gene. Diseases associated with SNX5 include Fanconi Anemia, Complementation Group A. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding and dynactin binding. An important paralog of this gene is SNX6.

UniProtKB/Swiss-Prot for SNX5 Gene

  • Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. 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). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:17148574, PubMed:18596235). May function as link between endosomal transport vesicles and dynactin (Probable). Plays a role in the internalization of EGFR after EGF stimulation (Probable). Involved in EGFR endosomal sorting and degradation; the function involves PIP5K1C isoform 3 and is retromer-independent (PubMed:23602387). Together with PIP5K1C isoform 3 facilitates HGS interaction with ubiquitinated EGFR, which initiates EGFR sorting to intraluminal vesicles (ILVs) of the multivesicular body for subsequent lysosomal degradation (Probable). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). Plays a role in macropinocytosis (PubMed:18854019, PubMed:21048941).

Gene Wiki entry for SNX5 Gene

Additional gene information for SNX5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX5 Gene

Genomics for SNX5 Gene

GeneHancer (GH) Regulatory Elements for SNX5 Gene

Promoters and enhancers for SNX5 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
GH20I017954 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.4 +4.3 4289 19.8 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 MGME1 SNORD17 SNX5 GC20M017966 PIR32960 GC20M017968 LOC100286962 RRBP1 OVOL2
GH20I018055 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11 -88.7 -88738 4 PKNOX1 CLOCK FOXA2 SIN3A ZBTB7B GLIS2 ZSCAN16 GLIS1 CTCF NCOA3 OVOL2 ENSG00000229262 SNX5 GC20P018011
GH20I017996 Enhancer 1 Ensembl ENCODE 17.7 -27.3 -27310 0.6 ELF3 RB1 NFIB ARID4B RAD21 ZNF335 ELK1 ZNF143 RUNX3 THAP11 MGME1 SNX5 SNORD17 RRBP1 ENSG00000229262 OVOL2 PIR51456 PTMAP3
GH20I018003 Enhancer 0.9 ENCODE 16.6 -36.0 -35964 2.9 HDGF ELF3 ARID4B BMI1 BATF IRF4 DNMT3B THRB ZNF48 RARA MGME1 SNX5 RRBP1 PTMAP3 PIR51456 OVOL2
GH20I017992 Enhancer 0.7 ENCODE 17.6 -24.2 -24170 1.4 PKNOX1 FOXA2 JUN EBF1 BATF NFATC1 ATF7 NR2F6 HOMEZ IKZF2 PIR51456 MGME1 SNORD17 SNX5 RRBP1 PTMAP3 OVOL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNX5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNX5 gene promoter:

Genomic Locations for SNX5 Gene

Genomic Locations for SNX5 Gene
chr20:17,941,596-17,968,991
(GRCh38/hg38)
Size:
27,396 bases
Orientation:
Minus strand
chr20:17,922,241-17,949,623
(GRCh37/hg19)

Genomic View for SNX5 Gene

Genes around SNX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX5 Gene

Proteins for SNX5 Gene

  • Protein details for SNX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5X3-SNX5_HUMAN
    Recommended name:
    Sorting nexin-5
    Protein Accession:
    Q9Y5X3
    Secondary Accessions:
    • B7ZKN3
    • D3DW26
    • Q52LC4
    • Q7KZN0
    • Q9BWP0

    Protein attributes for SNX5 Gene

    Size:
    404 amino acids
    Molecular mass:
    46816 Da
    Quaternary structure:
    • Forms heterodimers with BAR domain-containing sorting nexins SNX1 and SNX2; does not homodimerize (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 described 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 SNX1, SNX2, VPS26A, VPS29, VPS35, DCTN1, DOCK1, MIB1, PIP5K1C isoform 3. Interacts with HGS; increased by PIP5K1C isoform 3 kinase activity and by PtdIns(3P) and/or PtdIns(3,4)P2 (PubMed:16857196, PubMed:16968745, PubMed:19619496, PubMed:23085988, PubMed:18596235, PubMed:23602387, PubMed:24610942).

    Three dimensional structures from OCA and Proteopedia for SNX5 Gene

    Alternative splice isoforms for SNX5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX5 Gene

Post-translational modifications for SNX5 Gene

  • Ubiquitination at isoforms=180 and isoforms=188

No data available for DME Specific Peptides for SNX5 Gene

Domains & Families for SNX5 Gene

Gene Families for SNX5 Gene

Protein Domains for SNX5 Gene

Suggested Antigen Peptide Sequences for SNX5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5X3

UniProtKB/Swiss-Prot:

SNX5_HUMAN :
  • The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate.
  • Belongs to the sorting nexin family.
Domain:
  • The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate.
  • The BAR domain is able to sense membrane curvature upon dimerization. Membrane remodeling seems to implicate insertion of an amphipatric helix (AH) in the membrane (Probable).
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX5: view

Function for SNX5 Gene

Molecular function for SNX5 Gene

UniProtKB/Swiss-Prot Function:
Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. 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). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:17148574, PubMed:18596235). May function as link between endosomal transport vesicles and dynactin (Probable). Plays a role in the internalization of EGFR after EGF stimulation (Probable). Involved in EGFR endosomal sorting and degradation; the function involves PIP5K1C isoform 3 and is retromer-independent (PubMed:23602387). Together with PIP5K1C isoform 3 facilitates HGS interaction with ubiquitinated EGFR, which initiates EGFR sorting to intraluminal vesicles (ILVs) of the multivesicular body for subsequent lysosomal degradation (Probable). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). Plays a role in macropinocytosis (PubMed:18854019, PubMed:21048941).

Phenotypes From GWAS Catalog for SNX5 Gene

Gene Ontology (GO) - Molecular Function for SNX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19619496
GO:0008289 lipid binding IEA --
GO:0034452 dynactin binding IDA 19619496
GO:0035091 phosphatidylinositol binding ISS --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with SNX5: view
genes like me logo Genes that share phenotypes with SNX5: view

Animal Models for SNX5 Gene

MGI Knock Outs for SNX5:
  • Snx5 tm1a(KOMP)Wtsi

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNX5 Gene

Localization for SNX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX5 Gene

Endosome. Early endosome. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cell projection, phagocytic cup. Cell projection, ruffle. Note=Recruited to the plasma membrane after EGF stimulation, which leads to increased levels of phosphatidylinositol 3,4-bisphosphate (PdtIns(3,4)P2) (PubMed:15561769). Detected on macropinosomes (PubMed:16968745, PubMed:21048941). Targeted to membrane ruffles in response to EGFR stimulation. {ECO:0000269 PubMed:15561769, ECO:0000269 PubMed:16968745, ECO:0000269 PubMed:21048941}.

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 SNX5 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 5
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for SNX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0001891 phagocytic cup IEA --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with SNX5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNX5 Gene

Pathways & Interactions for SNX5 Gene

genes like me logo Genes that share pathways with SNX5: view

Gene Ontology (GO) - Biological Process for SNX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis IEA --
GO:0006907 pinocytosis IDA 18854019
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with SNX5: view

No data available for SIGNOR curated interactions for SNX5 Gene

Drugs & Compounds for SNX5 Gene

No Compound Related Data Available

Transcripts for SNX5 Gene

Unigene Clusters for SNX5 Gene

Sorting nexin 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNX5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1:
SP2: - - - -
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:

Relevant External Links for SNX5 Gene

GeneLoc Exon Structure for
SNX5
ECgene alternative splicing isoforms for
SNX5

Expression for SNX5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNX5 Gene

This gene is overexpressed in Lymph node (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNX5 Gene



Protein tissue co-expression partners for SNX5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SNX5 Gene:

SNX5

SOURCE GeneReport for Unigene cluster for SNX5 Gene:

Hs.316890

Evidence on tissue expression from TISSUES for SNX5 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Intestine(2.7)
  • Lung(2.6)
  • Skin(2.4)
  • Thyroid gland(2.3)
  • Kidney(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with SNX5: view

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 SNX5 Gene

Orthologs for SNX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNX5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX5 33 34
  • 99.83 (n)
oppossum
(Monodelphis domestica)
Mammalia SNX5 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX5 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNX5 33 34
  • 92.07 (n)
mouse
(Mus musculus)
Mammalia Snx5 33 16 34
  • 91.34 (n)
cow
(Bos Taurus)
Mammalia SNX5 33 34
  • 90.26 (n)
-- 34
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves SNX5 33 34
  • 80.31 (n)
lizard
(Anolis carolinensis)
Reptilia SNX5 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx5 33
  • 74.7 (n)
Str.16168 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68551 33
zebrafish
(Danio rerio)
Actinopterygii snx5 33 34
  • 70.05 (n)
Dr.6495 33
fruit fly
(Drosophila melanogaster)
Insecta CG8282 35
  • 53 (a)
Snx6 34
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y59A8B.22 35
  • 58 (a)
snx-6 34
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5377 34
  • 43 (a)
OneToMany
Species where no ortholog for SNX5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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 SNX5 Gene

ENSEMBL:
Gene Tree for SNX5 (if available)
TreeFam:
Gene Tree for SNX5 (if available)

Paralogs for SNX5 Gene

Paralogs for SNX5 Gene

(2) SIMAP similar genes for SNX5 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SNX5 Gene

genes like me logo Genes that share paralogs with SNX5: view

Variants for SNX5 Gene

Sequence variations from dbSNP and Humsavar for SNX5 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs587776943 pathogenic, Mitochondrial DNA depletion syndrome 11 17,970,315(-) G/A upstream_transcript_variant
rs143811282 likely-benign, not provided 17,969,945(-) C/G upstream_transcript_variant
rs142670810 likely-benign, not specified 17,969,973(-) G/A upstream_transcript_variant
rs11551768 benign, not specified 17,969,902(-) A/T upstream_transcript_variant
rs73107120 benign, not specified 17,970,129(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SNX5 Gene

Variant ID Type Subtype PubMed ID
nsv458944 CNV gain 19166990
nsv470543 CNV gain 18288195
nsv833932 CNV gain 17160897

Variation tolerance for SNX5 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNX5 Gene

Human Gene Mutation Database (HGMD)
SNX5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX5 Gene

Disorders for SNX5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNX5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
Search SNX5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNX5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SNX5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNX5 Gene

Publications for SNX5 Gene

  1. The DHR1 domain of DOCK180 binds to SNX5 and regulates cation-independent mannose 6-phosphate receptor transport. (PMID: 18596235) Hara S … Matsuda M (Molecular biology of the cell 2008) 3 4 22 58
  2. A role for SNX5 in the regulation of macropinocytosis. (PMID: 18854019) Lim JP … Gleeson PA (BMC cell biology 2008) 3 4 22 58
  3. A loss-of-function screen reveals SNX5 and SNX6 as potential components of the mammalian retromer. (PMID: 17148574) Wassmer T … Cullen PJ (Journal of cell science 2007) 2 3 4 58
  4. Sorting nexin 5 is localized to a subdomain of the early endosomes and is recruited to the plasma membrane following EGF stimulation. (PMID: 15561769) Merino-Trigo A … Gleeson PA (Journal of cell science 2004) 3 4 22 58
  5. A large family of endosome-localized proteins related to sorting nexin 1. (PMID: 11485546) Teasdale RD … Gleeson PA (The Biochemical journal 2001) 3 4 22 58

Products for SNX5 Gene

Sources for SNX5 Gene

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