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SNX8 sorting nexin 8 [ Homo sapiens (human) ]

Gene ID: 29886, updated on 3-Nov-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, Nov 2024]
Expression
Broad expression in spleen (RPKM 12.6), testis (RPKM 7.0) and 24 other tissues See more
Orthologs
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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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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)

Genotypes

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

  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

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

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

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

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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