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    SNX7 sorting nexin 7 [ Homo sapiens (human) ]

    Gene ID: 51375, updated on 4-Jul-2021

    Summary

    Official Symbol
    SNX7provided by HGNC
    Official Full Name
    sorting nexin 7provided by HGNC
    Primary source
    HGNC:HGNC:14971
    See related
    Ensembl:ENSG00000162627 MIM:614904
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in colon (RPKM 10.6), small intestine (RPKM 8.3) and 24 other tissues See more
    Orthologs
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    Genomic context

    See SNX7 in Genome Data Viewer
    Location:
    1p21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (98661284..98760500)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (99127277..99226056)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NFU1 iron-sulfur cluster scaffold pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 1776 Neighboring gene phospholipid phosphatase related 5 Neighboring gene PLPPR5 antisense RNA 1 Neighboring gene phospholipid phosphatase related 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
    GeneReviews: Not available
    Genome-wide association scan of dental caries in the permanent dentition.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC8717, DKFZp564F052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001364903.1NP_001351832.1  sorting nexin-7 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL627442
      Conserved Domains (2) summary
      cd07284
      Location:32147
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cd07666
      Location:131373
      BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
    2. NM_015976.5NP_057060.2  sorting nexin-7 isoform a

      See identical proteins and their annotated locations for NP_057060.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL627442
      Consensus CDS
      CCDS755.2
      UniProtKB/Swiss-Prot
      Q9UNH6
      Related
      ENSP00000304429.3, ENST00000306121.8
      Conserved Domains (2) summary
      cd07284
      Location:96211
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cd07666
      Location:195437
      BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
    3. NM_152238.4NP_689424.2  sorting nexin-7 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AL627442
      Consensus CDS
      CCDS756.2
      UniProtKB/Swiss-Prot
      Q9UNH6
      UniProtKB/TrEMBL
      B4DP69, E9PNL2
      Related
      ENSP00000434731.1, ENST00000529992.5
      Conserved Domains (2) summary
      cd06860
      Location:96214
      PX_SNX7_30_like; The phosphoinositide binding Phox Homology domain of Sorting Nexins 7 and 30
      cl12013
      Location:159382
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. NR_033716.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional internal exon in the 5' region but lacks an internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL627442
      Related
      ENST00000528824.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      98661284..98760500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001425.2XP_016856914.1  sorting nexin-7 isoform X2

      UniProtKB/Swiss-Prot
      Q9UNH6
      Conserved Domains (2) summary
      cd07284
      Location:32147
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cd07666
      Location:131373
      BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
    2. XM_017001428.1XP_016856917.1  sorting nexin-7 isoform X3

      UniProtKB/Swiss-Prot
      Q9UNH6
      Conserved Domains (2) summary
      cd07284
      Location:32147
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cl12013
      Location:131322
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_006710677.2XP_006710740.1  sorting nexin-7 isoform X1

      Conserved Domains (2) summary
      cd07284
      Location:118233
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cl12013
      Location:217408
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. XM_017001426.2XP_016856915.1  sorting nexin-7 isoform X2

      UniProtKB/Swiss-Prot
      Q9UNH6
      Conserved Domains (2) summary
      cd07284
      Location:32147
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cd07666
      Location:131373
      BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
    5. XM_017001427.2XP_016856916.1  sorting nexin-7 isoform X2

      UniProtKB/Swiss-Prot
      Q9UNH6
      Conserved Domains (2) summary
      cd07284
      Location:32147
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cd07666
      Location:131373
      BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
    6. XM_011541564.3XP_011539866.1  sorting nexin-7 isoform X2

      See identical proteins and their annotated locations for XP_011539866.1

      UniProtKB/Swiss-Prot
      Q9UNH6
      Conserved Domains (2) summary
      cd07284
      Location:32147
      PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
      cd07666
      Location:131373
      BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
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