Human Gene SNX14 (ENST00000346348.7) from GENCODE V44
  Description: Homo sapiens sorting nexin 14 (SNX14), transcript variant 2, mRNA. (from RefSeq NM_020468)
RefSeq Summary (NM_020468): This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014].
Gencode Transcript: ENST00000346348.7
Gencode Gene: ENSG00000135317.14
Transcript (Including UTRs)
   Position: hg38 chr6:85,505,496-85,593,913 Size: 88,418 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg38 chr6:85,505,967-85,593,718 Size: 87,752 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:85,505,496-85,593,913)mRNA (may differ from genome)Protein (893 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SNX14_HUMAN
DESCRIPTION: RecName: Full=Sorting nexin-14;
FUNCTION: May be involved in several stages of intracellular trafficking (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the sorting nexin family.
SIMILARITY: Contains 1 PX (phox homology) domain.
SIMILARITY: Contains 1 PXA domain.
SIMILARITY: Contains 1 RGS domain.
SEQUENCE CAUTION: Sequence=CAI20444.1; Type=Erroneous gene model prediction; Sequence=CAI20445.1; Type=Erroneous gene model prediction;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: SNX14
Diseases sorted by gene-association score: spinocerebellar ataxia, autosomal recessive 20* (1378), spinocerebellar ataxia 20 (13), vici syndrome (12), autosomal recessive cerebellar ataxia (11), spastic paraplegia 49, autosomal recessive (10), neurodegeneration with brain iron accumulation 5 (8), intellectual disability (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.80 RPKM in Testis
Total median expression: 461.80 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 -109.60195-0.562 Picture PostScript Text
3' UTR -91.80471-0.195 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
  InterPro Domains: Graphical view of domain structure
IPR001683 - Phox
IPR003114 - Phox_assoc
IPR000342 - Regulat_G_prot_signal
IPR016137 - Regulat_G_prot_signal_superfam
IPR013937 - Sorting_nexin_C

Pfam Domains:
PF08628 - Sorting nexin C terminal
PF00787 - PX domain
PF02194 - PXA domain
PF00615 - Regulator of G protein signaling domain

ModBase Predicted Comparative 3D Structure on Q9Y5W7
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0035091 phosphatidylinositol binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Biological Process:
GO:0015031 protein transport
GO:0097352 autophagosome maturation

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005770 late endosome
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0031902 late endosome membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC005110 - Homo sapiens sorting nexin 14, mRNA (cDNA clone MGC:13217 IMAGE:3959086), complete cds.
AK295417 - Homo sapiens cDNA FLJ55973 complete cds, highly similar to Sorting nexin-14.
BC046520 - Homo sapiens sorting nexin 14, mRNA (cDNA clone IMAGE:5267454), partial cds.
AK000362 - Homo sapiens cDNA FLJ20355 fis, clone HEP15804, highly similar to AF121863 Homo sapiens sorting nexin 14.
BC095419 - Homo sapiens sorting nexin 14, mRNA (cDNA clone MGC:110946 IMAGE:5268442), complete cds.
BC068589 - Homo sapiens sorting nexin 14, mRNA (cDNA clone MGC:87608 IMAGE:4818366), complete cds.
AY044865 - Homo sapiens sorting nexin 14 (SNX14) mRNA, complete cds.
KJ899325 - Synthetic construct Homo sapiens clone ccsbBroadEn_08719 SNX14 gene, encodes complete protein.
KJ899326 - Synthetic construct Homo sapiens clone ccsbBroadEn_08720 SNX14 gene, encodes complete protein.
CU686683 - Synthetic construct Homo sapiens gateway clone IMAGE:100022884 5' read SNX14 mRNA.
AF121863 - Homo sapiens sorting nexin 14 (SNX14) mRNA, partial cds.
AJ420561 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1521079.
JD248864 - Sequence 229888 from Patent EP1572962.
JD316107 - Sequence 297131 from Patent EP1572962.
AK026479 - Homo sapiens cDNA: FLJ22826 fis, clone KAIA4022, highly similar to AF121863 Homo sapiens sorting nexin 14 (SNX14) mRNA.
AK095380 - Homo sapiens cDNA FLJ38061 fis, clone CTONG2014966, highly similar to SORTING NEXIN 14.
AK226097 - Homo sapiens mRNA for sorting nexin 14 isoform a variant, clone: hh12035.
AK125063 - Homo sapiens cDNA FLJ43073 fis, clone BRTHA3013884, highly similar to Sorting nexin 14.
JD026720 - Sequence 7744 from Patent EP1572962.
JD032101 - Sequence 13125 from Patent EP1572962.
JD261007 - Sequence 242031 from Patent EP1572962.
JD486104 - Sequence 467128 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DI55, ENST00000346348.1, ENST00000346348.2, ENST00000346348.3, ENST00000346348.4, ENST00000346348.5, ENST00000346348.6, NM_020468, Q4VBR3, Q5TCF9, Q5TCG0, Q6NUI7, Q6PI37, Q9BSD1, Q9Y5W7, SNX14_HUMAN, uc003pks.1, uc003pks.2, uc003pks.3, uc003pks.4
UCSC ID: ENST00000346348.7
RefSeq Accession: NM_020468
Protein: Q9Y5W7 (aka SNX14_HUMAN or SNXE_HUMAN)
CCDS: CCDS5003.1, CCDS75490.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SNX14:
ataxias (Hereditary Ataxia Overview)

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