Human Gene SNX18 (uc003jpi.4)
  Description: Homo sapiens sorting nexin 18 (SNX18), transcript variant 1, mRNA.
RefSeq Summary (NM_001102575): 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 some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr5:53,813,593-53,842,416 Size: 28,824 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr5:53,813,783-53,839,262 Size: 25,480 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:53,813,593-53,842,416)mRNA (may differ from genome)Protein (624 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMGIPubMedReactome
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SNX18
CDC HuGE Published Literature: SNX18
Positive Disease Associations: Arteries , Behcet Syndrome , Cell Adhesion Molecules , Neutrophils
Related Studies:
  1. Arteries
    , , . [PubMed 0]
  2. Arteries
    , , . [PubMed 0]
  3. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.56 RPKM in Artery - Aorta
Total median expression: 285.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -105.20190-0.554 Picture PostScript Text
3' UTR -804.433154-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00018 - SH3 domain
PF00787 - PX domain
PF07653 - Variant SH3 domain
PF10456 - WASP-binding domain of Sorting nexin protein
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
64268 - PX domain

ModBase Predicted Comparative 3D Structure on Q96RF0-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  LF209919 - JP 2014500723-A/17422: Polycomb-Associated Non-Coding RNAs.
AK304195 - Homo sapiens cDNA FLJ61062 complete cds, highly similar to Sorting nexin-18.
BC060791 - Homo sapiens sorting nexin 18, mRNA (cDNA clone MGC:71591 IMAGE:30341956), complete cds.
BC067860 - Homo sapiens sorting nexin 18, mRNA (cDNA clone MGC:87490 IMAGE:30343220), complete cds.
BC117218 - Homo sapiens sorting nexin 18, mRNA (cDNA clone MGC:150827 IMAGE:40125769), complete cds.
BC117220 - Homo sapiens sorting nexin 18, mRNA (cDNA clone MGC:150829 IMAGE:40125771), complete cds.
KJ906403 - Synthetic construct Homo sapiens clone ccsbBroadEn_16073 SNX18 gene, encodes complete protein.
AF395536 - Homo sapiens sorting nexin 18 (SNX18) mRNA, complete cds.
LF332736 - JP 2014500723-A/140239: Polycomb-Associated Non-Coding RNAs.
LF332735 - JP 2014500723-A/140238: Polycomb-Associated Non-Coding RNAs.
DQ571018 - Homo sapiens piRNA piR-31130, complete sequence.
LF332734 - JP 2014500723-A/140237: Polycomb-Associated Non-Coding RNAs.
AK057122 - Homo sapiens cDNA FLJ32560 fis, clone SPLEN1000145.
LF332714 - JP 2014500723-A/140217: Polycomb-Associated Non-Coding RNAs.
LF332713 - JP 2014500723-A/140216: Polycomb-Associated Non-Coding RNAs.
AK022059 - Homo sapiens cDNA FLJ11997 fis, clone HEMBB1001458.
LF332712 - JP 2014500723-A/140215: Polycomb-Associated Non-Coding RNAs.
LF332711 - JP 2014500723-A/140214: Polycomb-Associated Non-Coding RNAs.
LF332710 - JP 2014500723-A/140213: Polycomb-Associated Non-Coding RNAs.
LF332709 - JP 2014500723-A/140212: Polycomb-Associated Non-Coding RNAs.
LF332708 - JP 2014500723-A/140211: Polycomb-Associated Non-Coding RNAs.
LF332707 - JP 2014500723-A/140210: Polycomb-Associated Non-Coding RNAs.
LF332706 - JP 2014500723-A/140209: Polycomb-Associated Non-Coding RNAs.
LF332705 - JP 2014500723-A/140208: Polycomb-Associated Non-Coding RNAs.
LF332703 - JP 2014500723-A/140206: Polycomb-Associated Non-Coding RNAs.
MA445496 - JP 2018138019-A/17422: Polycomb-Associated Non-Coding RNAs.
MA568313 - JP 2018138019-A/140239: Polycomb-Associated Non-Coding RNAs.
MA568312 - JP 2018138019-A/140238: Polycomb-Associated Non-Coding RNAs.
MA568311 - JP 2018138019-A/140237: Polycomb-Associated Non-Coding RNAs.
MA568291 - JP 2018138019-A/140217: Polycomb-Associated Non-Coding RNAs.
MA568290 - JP 2018138019-A/140216: Polycomb-Associated Non-Coding RNAs.
MA568289 - JP 2018138019-A/140215: Polycomb-Associated Non-Coding RNAs.
MA568288 - JP 2018138019-A/140214: Polycomb-Associated Non-Coding RNAs.
MA568287 - JP 2018138019-A/140213: Polycomb-Associated Non-Coding RNAs.
MA568286 - JP 2018138019-A/140212: Polycomb-Associated Non-Coding RNAs.
MA568285 - JP 2018138019-A/140211: Polycomb-Associated Non-Coding RNAs.
MA568284 - JP 2018138019-A/140210: Polycomb-Associated Non-Coding RNAs.
MA568283 - JP 2018138019-A/140209: Polycomb-Associated Non-Coding RNAs.
MA568282 - JP 2018138019-A/140208: Polycomb-Associated Non-Coding RNAs.
MA568280 - JP 2018138019-A/140206: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96RF0 (Reactome details) participates in the following event(s):

R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001102575, NP_001096045, Q96RF0-2, SH3PXD3B, SNAG1
UCSC ID: uc003jpi.4
RefSeq Accession: NM_001102575
Protein: Q96RF0-2, splice isoform of Q96RF0 CCDS: CCDS43317.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001102575.1
exon count: 2CDS single in 3' UTR: no RNA size: 5238
ORF size: 1875CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3950.00frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.