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SNX2 sorting nexin 2 [ Homo sapiens (human) ]

Gene ID: 6643, updated on 27-Nov-2024

Summary

Official Symbol
SNX2provided by HGNC
Official Full Name
sorting nexin 2provided by HGNC
Primary source
HGNC:HGNC:11173
See related
Ensembl:ENSG00000205302 MIM:605929; AllianceGenome:HGNC:11173
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
TRG-9
Summary
This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in thyroid (RPKM 17.2), spleen (RPKM 14.1) and 25 other tissues See more
Orthologs
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Genomic context

See SNX2 in Genome Data Viewer
Location:
5q23.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (122774996..122834543)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (123291827..123351406)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (122110691..122170238)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927357 Neighboring gene long intergenic non-protein coding RNA 2201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22997 Neighboring gene arginine-fifty homeobox pseudogene 1 Neighboring gene MPRA-validated peak5446 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:122087198-122087764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23001 Neighboring gene uncharacterized LOC105379154 Neighboring gene uncharacterized LOC124901216 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:122145340-122145844 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:122145845-122146350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16271 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:122195290-122196259 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:122196439-122196653 Neighboring gene Sharpr-MPRA regulatory region 12893 Neighboring gene sorting nexin 24 Neighboring gene MPRA-validated peak5448 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23002 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 7SL, cytoplasmic 689, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC5204, FLJ23065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding HDA PubMed 
enables epidermal growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables insulin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables leptin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables transferrin receptor binding IDA
Inferred from Direct Assay
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 intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in lamellipodium morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retrograde transport, endosome to Golgi NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endosome IDA
Inferred from Direct Assay
more info
 
is_active_in endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of retromer complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of retromer, tubulation complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of retromer, tubulation complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
sorting nexin-2
Names
CTB-36H16.2
transformation-related gene 9 protein

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_001278199.1NP_001265128.1  sorting nexin-2 isoform 2

    See identical proteins and their annotated locations for NP_001265128.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2 which is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC008669, AK296596, BC003382, DA738311, DC313082, DC338761
    Consensus CDS
    CCDS64234.1
    UniProtKB/Swiss-Prot
    O60749
    Related
    ENSP00000421663.1, ENST00000514949.1
    Conserved Domains (2) summary
    cd07282
    Location:25148
    PX_SNX2; The phosphoinositide binding Phox Homology domain of Sorting Nexin 2
    cl12013
    Location:166399
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_003100.4NP_003091.2  sorting nexin-2 isoform 1

    See identical proteins and their annotated locations for NP_003091.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008669, BC003382
    Consensus CDS
    CCDS34217.1
    UniProtKB/Swiss-Prot
    B3KN44, B4DEK4, B7Z408, O43650, O60749, P82862, Q53XK8, Q597H6, Q9BTS8
    UniProtKB/TrEMBL
    B3KML1, Q53GG3
    Related
    ENSP00000368831.2, ENST00000379516.7
    Conserved Domains (3) summary
    cd07282
    Location:142265
    PX_SNX2; The phosphoinositide binding Phox Homology domain of Sorting Nexin 2
    pfam03700
    Location:375
    Sorting_nexin; Sorting nexin, N-terminal domain
    cl12013
    Location:283516
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    122774996..122834543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    123291827..123351406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)