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Snx14 sorting nexin 14 [ Mus musculus (house mouse) ]

Gene ID: 244962, updated on 28-Oct-2024

Summary

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Official Symbol
Snx14provided by MGI
Official Full Name
sorting nexin 14provided by MGI
Primary source
MGI:MGI:2155664
See related
Ensembl:ENSMUSG00000032422 AllianceGenome:MGI:2155664
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
YR-14; B830022K16; C330035N22Rik
Summary
Predicted to enable phosphatidylinositol-3,5-bisphosphate binding activity. Involved in postsynaptic modulation of chemical synaptic transmission. Is active in synapse. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 20. Orthologous to human SNX14 (sorting nexin 14). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in bladder adult (RPKM 4.9), CNS E18 (RPKM 4.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Snx14 in Genome Data Viewer
Location:
9 E3.1; 9 47.24 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (88258805..88320982, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (88376755..88438929, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_24855 Neighboring gene microRNA 12205 Neighboring gene 5' nucleotidase, ecto Neighboring gene 60S ribosomal protein L21 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10573 Neighboring gene STARR-seq mESC enhancer starr_24856 Neighboring gene synaptotagmin binding, cytoplasmic RNA interacting protein Neighboring gene STARR-positive B cell enhancer ABC_E9772 Neighboring gene small nucleolar RNA, C/D box 50A Neighboring gene small nucleolar RNA host gene 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice. Huang HS, et al. PLoS One, 2014. PMID 24859318, Free PMC Article
  2. SNX14 is a bifunctional negative regulator for neuronal 5-HT6 receptor signaling. Ha CM, et al. J Cell Sci, 2015 May 1. PMID 25795301, Free PMC Article
  3. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Bryant D, et al. Sci Rep, 2020 Aug 13. PMID 32792680, Free PMC Article
  4. Sorting nexin-14, a gene expressed in motoneurons trapped by an in vitro preselection method. Carroll P, et al. Dev Dyn, 2001 Aug. PMID 11500980
  5. A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. Nakano Y, et al. PLoS Genet, 2012. PMID 23055939, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
    Title: Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
  2. SNX14 is a dual endogenous negative regulator in 5-HT6R-mediated signaling pathway.
    Title: SNX14 is a bifunctional negative regulator for neuronal 5-HT6 receptor signaling.
  3. These data reveal a role for monoallelic Snx14 expression in maintaining normal neuronal excitability and synaptic transmission.
    Title: Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3,5-bisphosphate binding ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-3,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in autophagosome maturation ISO
Inferred from Sequence Orthology
more info
  
involved_in autophagosome maturation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in postsynaptic modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in postsynaptic modulation of chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
is_active_in late endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome ISO
Inferred from Sequence Orthology
more info
  
located_in late endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in synapse IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
sorting nexin-14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001359958.2 → NP_001346887.2  sorting nexin-14 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC116713, CT025673
    UniProtKB/Swiss-Prot
    B0V2Q4, G3UWA3, Q8BHY8
    UniProtKB/TrEMBL
    G3UX33
    Related
    ENSMUSP00000133533.3, ENSMUST00000174806.9
    Conserved Domains (4) summary
    cd06877
    Location:564 → 686
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:340 → 466
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:130 → 299
    PXA; PXA domain
    pfam08628
    Location:807 → 911
    Nexin_C; Sorting nexin C terminal

  2. NM_172926.4 → NP_766514.3  sorting nexin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC116713, CT025673
    Consensus CDS
    CCDS23387.2
    UniProtKB/Swiss-Prot
    B0V2Q4, G3UWA3, Q8BHY8
    UniProtKB/TrEMBL
    A0A6Q6RCM4
    Related
    ENSMUSP00000130116.3, ENSMUST00000165315.9
    Conserved Domains (4) summary
    cd06877
    Location:555 → 677
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:340 → 466
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:130 → 299
    PXA; PXA domain
    pfam08628
    Location:798 → 902
    Nexin_C; Sorting nexin C terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    88258805..88320982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036155012.1 → XP_036010905.1  sorting nexin-14 isoform X1

    UniProtKB/TrEMBL
    Q80XP2
    Conserved Domains (3) summary
    cd06877
    Location:179 → 301
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    pfam08628
    Location:422 → 526
    Nexin_C; Sorting nexin C terminal
    cl02565
    Location:1 → 81
    RGS; Regulator of G protein signaling (RGS) domain superfamily
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BHY8.2 GenPept UniProtKB/Swiss-Prot:Q8BHY8

Gene LinkOut

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