SNX2 sorting nexin 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 5q23.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (122774996..122834543)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (123291827..123351406)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (122110691..122170238)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human sorting nexin 2 protein interacts with Influenza A virus PA protein and has a negative regulatory effect on the virus replication.
Title: Human sorting nexin 2 protein interacts with Influenza A virus PA protein and has a negative regulatory effect on the virus replication.
Host Retromer Protein Sorting Nexin 2 Interacts with Human Respiratory Syncytial Virus Structural Proteins and is Required for Efficient Viral Production.
Title: Host Retromer Protein Sorting Nexin 2 Interacts with Human Respiratory Syncytial Virus Structural Proteins and is Required for Efficient Viral Production.
SNX2 is highly expressed in 73.3% Graves disease patients and in 93.8% thyroid nodule patients.
Title: Sorting Nexin 2 (SNX2): a potential marker of active thyrocytes in normal and hyperfunctioning thyroid disorders.
Silencing of SNX2 markedly alters sensitivity to anticancer drugs targeted to c-Met.
Title: Sorting nexin 2-mediated membrane trafficking of c-Met contributes to sensitivity of molecular-targeted drugs.
SNX1 and SNX2 interact with the Rac1 and RhoG guanine nucleotide exchange factor Kalirin-7. Overexpression of SNX1 or SNX2 and Kalirin-7 partially redistributes both SNXs to the plasma membrane, and results in RhoG-dependent lamellipodia formation.
Title: A novel, retromer-independent role for sorting nexins 1 and 2 in RhoG-dependent membrane remodeling.
study indicates that hVps34 and its product PI(3)P are involved in endosome to Golgi transport of ricin, and that SNX2 and SNX4 are likely to be effectors in this pathway
Title: Phosphoinositide-regulated retrograde transport of ricin: crosstalk between hVps34 and sorting nexins.
These observations indicate that the mammalian retromer complex assembles by sequential association of SNX1/2 and Vps26-Vps29-Vps35 subcomplexes on endosomal membranes and that SNX1 and SNX2 play interchangeable but essential roles.
Title: Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors.
Examined the effect of a PX domain-mutated SNX2 that is defective in vesicle localization on EGFR trafficking.
Title: A role for sorting nexin 2 in epidermal growth factor receptor down-regulation: evidence for distinct functions of sorting nexin 1 and 2 in protein trafficking.
The N-terminal domain of Abs interacts with the phox homology (PX) domain of SNX2 suggesting that PX domains may also participate in protein-protein interaction
Title: Abstrakt interacts with and regulates the expression of sorting nexin-2.
Data suggest that sorting nexin-2 is not essential for the regulation of endosome-to-trans Golgi network retrieval of the cation-independent mannose 6-phosphate receptor.
Title: Sorting nexin-2 is associated with tubular elements of the early endosome, but is not essential for retromer-mediated endosome-to-TGN transport.

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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

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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Markers

RH69353 (e-PCR)
- UniSTS:69178

RH46107 (e-PCR)
- UniSTS:59721

SHGC-53714 (e-PCR)
- UniSTS:59722

D5S1975 (e-PCR), detects polymorphism
- UniSTS:50507

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	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

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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)

NM_001278199.1 → NP_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:25 → 148

PX_SNX2; The phosphoinositide binding Phox Homology domain of Sorting Nexin 2

cl12013
Location:166 → 399

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_003100.4 → NP_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:142 → 265

PX_SNX2; The phosphoinositide binding Phox Homology domain of Sorting Nexin 2

pfam03700
Location:3 → 75

Sorting_nexin; Sorting nexin, N-terminal domain

cl12013
Location:283 → 516

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature