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SNX4 sorting nexin 4 [ Homo sapiens (human) ]

Gene ID: 8723, updated on 5-Aug-2018

Summary

Official Symbol
SNX4provided by HGNC
Official Full Name
sorting nexin 4provided by HGNC
Primary source
HGNC:HGNC:11175
See related
Ensembl:ENSG00000114520 MIM:605931; Vega:OTTHUMG00000159575
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
Also known as
ATG24B
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 associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]
Expression
Ubiquitous expression in thyroid (RPKM 29.2), kidney (RPKM 26.4) and 25 other tissues See more
Orthologs

Genomic context

See SNX4 in Genome Data Viewer
Location:
3q21.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (125446644..125520214, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (125165488..125239058, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 232, pseudogene Neighboring gene uncharacterized LOC105374081 Neighboring gene oxysterol binding protein like 11 Neighboring gene HNF1 motif-containing MPRA enhancer 180 Neighboring gene uncharacterized LOC100419966 Neighboring gene myosin light chain kinase pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
epidermal growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
leptin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transferrin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of histamine secretion by mast cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
SNARE complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic dynein complex IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_003794.3NP_003785.1  sorting nexin-4

    See identical proteins and their annotated locations for NP_003785.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and is the protein-coding variant.
    Source sequence(s)
    AI187416, AK001835, DA289870
    Consensus CDS
    CCDS3032.1
    UniProtKB/Swiss-Prot
    O95219
    Related
    ENSP00000251775.4, OTTHUMP00000215866, ENST00000251775.8, OTTHUMT00000356299
    Conserved Domains (2) summary
    cd06864
    Location:58184
    PX_SNX4; The phosphoinositide binding Phox Homology domain of Sorting Nexin 4
    cd07622
    Location:205448
    BAR_SNX4; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 4

RNA

  1. NR_073435.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI187416, AK001835, AK298972, DA289870

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    125446644..125520214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007414.2XP_016862903.1  sorting nexin-4 isoform X1

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