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    SNX8 sorting nexin 8 [ Homo sapiens (human) ]

    Gene ID: 29886, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SNX8provided by HGNC
    Official Full Name
    sorting nexin 8provided by HGNC
    Primary source
    HGNC:HGNC:14972
    See related
    Ensembl:ENSG00000106266 MIM:614905; AllianceGenome:HGNC:14972
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Mvp1
    Summary
    Enables identical protein binding activity and phosphatidylinositol binding activity. Involved in early endosome to Golgi transport and intracellular protein transport. Located in early endosome membrane and retromer complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in spleen (RPKM 12.6), testis (RPKM 7.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNX8 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2251770..2354497, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2365186..2467922, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2291405..2354076, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2273433-2273965 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:2276450-2277649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2280373-2281224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25514 Neighboring gene mitochondrial rRNA methyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25515 Neighboring gene nudix hydrolase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2297547-2298326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2298327-2299106 Neighboring gene microRNA 6836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2309692-2310302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2310912-2311521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2311522-2312130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25520 Neighboring gene inner mitochondrial membrane peptidase subunit 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25521 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2340879-2341379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2341882-2342382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2349114-2349623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2349624-2350134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2350135-2350643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17865 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2354180-2354680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2354681-2355181 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2393253-2393808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17869 Neighboring gene eukaryotic translation initiation factor 3 subunit B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2416395-2416894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2418983-2419483 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2429085-2429981 Neighboring gene kinesin family member 19B, pseudogene Neighboring gene NGRN pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. SNX8 enables lysosome reformation and reverses lysosomal storage disorder. Li X, et al. Nat Commun, 2024 Mar 22. PMID 38519472, Free PMC Article
    2. SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot. Vanzo RJ, et al. Am J Med Genet A, 2014 Feb. PMID 24311514
    3. Sorting nexin 8 regulates endosome-to-Golgi transport. Dyve AB, et al. Biochem Biophys Res Commun, 2009 Dec 4. PMID 19782049
    4. SNX-BAR-mediated endosome tubulation is co-ordinated with endosome maturation. van Weering JR, et al. Traffic, 2012 Jan. PMID 21973056
    5. SNX8 mediates IFNγ-triggered noncanonical signaling pathway and host defense against Listeria monocytogenes. Wei J, et al. Proc Natl Acad Sci U S A, 2017 Dec 5. PMID 29180417, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SNX8 enables lysosome reformation and reverses lysosomal storage disorder.
      Title: SNX8 enables lysosome reformation and reverses lysosomal storage disorder.
    2. Fatty Acid Synthase-Suppressor Screening Identifies Sorting Nexin 8 as a Therapeutic Target for NAFLD.
      Title: Fatty Acid Synthase-Suppressor Screening Identifies Sorting Nexin 8 as a Therapeutic Target for NAFLD.
    3. A PX-BAR protein Mvp1/SNX8 and a dynamin-like GTPase Vps1 drive endosomal recycling.
      Title: A PX-BAR protein Mvp1/SNX8 and a dynamin-like GTPase Vps1 drive endosomal recycling.
    4. SNX8 mediates IFNG-triggered non-canonical signaling pathway and host defense against Listeria monocytogenes.
      Title: SNX8 mediates IFNγ-triggered noncanonical signaling pathway and host defense against Listeria monocytogenes.
    5. SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.
      Title: SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.
    6. SNX4, but not SNX1 and SNX8, is associated with the Rab11-recycling endosomes and that a high frequency of SNX4-mediated tubule formation is observed as endosomes undergo Rab4-to-Rab11 transition.
      Title: SNX-BAR-mediated endosome tubulation is co-ordinated with endosome maturation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp761E1721

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylinositol binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in early endosome to Golgi transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in early endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in early endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    part_of retromer complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sorting nexin-8

    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_013321.4 → NP_037453.1  sorting nexin-8

      See identical proteins and their annotated locations for NP_037453.1

      Status: VALIDATED

      Source sequence(s)
      AC004971, AL713633, BC021565
      Consensus CDS
      CCDS5331.1
      UniProtKB/Swiss-Prot
      A4D207, Q96I67, Q9Y5X2
      UniProtKB/TrEMBL
      B2RDT8
      Related
      ENSP00000222990.3, ENST00000222990.8
      Conserved Domains (2) summary
      cd06866
      Location:75 → 178
      PX_SNX8_Mvp1p_like; The phosphoinositide binding Phox Homology domain of Sorting Nexin 8 and yeast Mvp1p
      cd07597
      Location:195 → 440
      BAR_SNX8; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      2251770..2354497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012084.3 → XP_016867573.1  sorting nexin-8 isoform X3

      UniProtKB/TrEMBL
      B2RDT8
      Conserved Domains (2) summary
      cd06866
      Location:22 → 125
      PX_SNX8_Mvp1p_like; The phosphoinositide binding Phox Homology domain of Sorting Nexin 8 and yeast Mvp1p
      cd07597
      Location:142 → 387
      BAR_SNX8; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 8

    2. XM_011515329.3 → XP_011513631.1  sorting nexin-8 isoform X1

      UniProtKB/TrEMBL
      B2RDT8
      Conserved Domains (2) summary
      cd06866
      Location:67 → 170
      PX_SNX8_Mvp1p_like; The phosphoinositide binding Phox Homology domain of Sorting Nexin 8 and yeast Mvp1p
      cd07597
      Location:187 → 432
      BAR_SNX8; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 8

    3. XM_047420281.1 → XP_047276237.1  sorting nexin-8 isoform X3

      UniProtKB/TrEMBL
      B2RDT8

    4. XM_011515330.3 → XP_011513632.1  sorting nexin-8 isoform X2

      UniProtKB/TrEMBL
      B2RDT8
      Conserved Domains (2) summary
      cd06866
      Location:61 → 164
      PX_SNX8_Mvp1p_like; The phosphoinositide binding Phox Homology domain of Sorting Nexin 8 and yeast Mvp1p
      cd07597
      Location:181 → 426
      BAR_SNX8; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      2365186..2467922 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358023.1 → XP_054213998.1  sorting nexin-8 isoform X3

      UniProtKB/TrEMBL
      B2RDT8

    2. XM_054358021.1 → XP_054213996.1  sorting nexin-8 isoform X1

      UniProtKB/TrEMBL
      B2RDT8

    3. XM_054358024.1 → XP_054213999.1  sorting nexin-8 isoform X3

      UniProtKB/TrEMBL
      B2RDT8

    4. XM_054358022.1 → XP_054213997.1  sorting nexin-8 isoform X2

      UniProtKB/TrEMBL
      B2RDT8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5X2.1 GenPept UniProtKB/Swiss-Prot:Q9Y5X2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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