This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific... See more...

Aliases for SNX27 Gene

Aliases for SNX27 Gene

  • Sorting Nexin 27 2 3 5
  • Sorting Nexin Family Member 27 2 3
  • Sorting Nexin-27 3 4
  • KIAA0488 2 4
  • MY014 2 3
  • Methamphetamine-Responsive Transcript 1 3
  • MGC20471 2
  • SNX27 5
  • MRT1 3

External Ids for SNX27 Gene

Previous GeneCards Identifiers for SNX27 Gene

  • GC01P147367
  • GC01P148359
  • GC01P148801
  • GC01P148397
  • GC01P149851
  • GC01P151585
  • GC01P122961

Summaries for SNX27 Gene

Entrez Gene Summary for SNX27 Gene

  • This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNX27 Gene

SNX27 (Sorting Nexin 27) is a Protein Coding gene. Diseases associated with SNX27 include Epileptic Encephalopathy, Early Infantile, 6 and Epilepsy. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is SNX17.

UniProtKB/Swiss-Prot Summary for SNX27 Gene

  • Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes.

Gene Wiki entry for SNX27 Gene

Additional gene information for SNX27 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNX27 Gene

Genomics for SNX27 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNX27 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNX27 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNX27

Top Transcription factor binding sites by QIAGEN in the SNX27 gene promoter:
  • aMEF-2
  • AML1a
  • c-Myb
  • MEF-2A
  • Nkx2-5
  • Nkx5-1
  • Pax-5
  • RFX1
  • SRY

Genomic Locations for SNX27 Gene

Genomic Locations for SNX27 Gene
chr1:151,612,006-151,699,091
(GRCh38/hg38)
Size:
87,086 bases
Orientation:
Plus strand
chr1:151,584,541-151,671,567
(GRCh37/hg19)
Size:
87,027 bases
Orientation:
Plus strand

Genomic View for SNX27 Gene

Genes around SNX27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX27 Gene

Proteins for SNX27 Gene

  • Protein details for SNX27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L92-SNX27_HUMAN
    Recommended name:
    Sorting nexin-27
    Protein Accession:
    Q96L92
    Secondary Accessions:
    • Q32Q36
    • Q4AEJ5
    • Q5VWB0
    • Q5VWB1
    • Q5VWB2
    • Q6IPP6
    • Q86UB1
    • Q96D79
    • Q9H3K8

    Protein attributes for SNX27 Gene

    Size:
    541 amino acids
    Molecular mass:
    61265 Da
    Quaternary structure:
    • Core component of the SNX27-retromer, a multiprotein complex composed of SNX27, the WASH complex and the retromer complex. Interacts (via PDZ domain) with a number of target transmembrane proteins (via PDZ-binding motif): ABCC4, ADRB2, ARHGEF7, GRIA1, GRIA2, GRIN1, GRIN2A GRIN2C, KCNJ6, KCNJ9 and SLC2A1/GLUT1. Interacts (via the FERM-like regions) with the WASH complex. Interacts with SNX1. Interacts with CYTIP. Isoform 1 and isoform 2 directly interact with DGKZ. Isoform 1 and isoform 2 interact with HT4R isoform 5-HTA(A). Interacts with MCC.
    SequenceCaution:
    • Sequence=AAG43127.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH12184.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: May be due to intron retention.

    Three dimensional structures from OCA and Proteopedia for SNX27 Gene

    Alternative splice isoforms for SNX27 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX27 Gene

Post-translational modifications for SNX27 Gene

  • Ubiquitination at Lys222 and Lys404
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNX27 Gene

Domains & Families for SNX27 Gene

Gene Families for SNX27 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SNX27 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • Phox-like
  • RA domain
ProtoNet:

Suggested Antigen Peptide Sequences for SNX27 Gene

GenScript: Design optimal peptide antigens:
  • Sorting nexin-27 (SNX27_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96L92

UniProtKB/Swiss-Prot:

SNX27_HUMAN :
  • The PDZ domain mediates binding to a subset of proteins containing a PDZ-binding motif at the C-terminus: the specificity for PDZ-binding motif is provided by the 2 residues located upstream of the canonical PDZ-binding motif (By similarity). The PDZ domain also mediates binding to the retromer complex via direct interaction with VPS26 (VPS26A or VPS26B) (PubMed:23563491).
  • Belongs to the sorting nexin family.
Domain:
  • The PDZ domain mediates binding to a subset of proteins containing a PDZ-binding motif at the C-terminus: the specificity for PDZ-binding motif is provided by the 2 residues located upstream of the canonical PDZ-binding motif (By similarity). The PDZ domain also mediates binding to the retromer complex via direct interaction with VPS26 (VPS26A or VPS26B) (PubMed:23563491).
  • The PX domain mediates binding to phosphatidylinositol 3-phosphate (PtdIns(3P)) and localization to early endosome membranes.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX27: view

Function for SNX27 Gene

Molecular function for SNX27 Gene

UniProtKB/Swiss-Prot Function:
Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes.

Phenotypes From GWAS Catalog for SNX27 Gene

Gene Ontology (GO) - Molecular Function for SNX27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19555689
GO:0008289 lipid binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IEA,IDA 21300787
GO:0035091 phosphatidylinositol binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with SNX27: view
genes like me logo Genes that share phenotypes with SNX27: view

Animal Models for SNX27 Gene

MGI Knock Outs for SNX27:
  • Snx27 Snx27<tm1Lslo>
  • Snx27 Snx27<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for SNX27 Gene

miRTarBase miRNAs that target SNX27

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX27

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNX27 Gene

Localization for SNX27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX27 Gene

Early endosome membrane. Peripheral membrane protein. Cytoplasm, cytosol. Note=Localizes to immunological synapse in T-cells. In T-cells, recruited from the cytosol to sorting endosomes by phosphoinositide-3-kinase products.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNX27 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
cytosol 5
cytoskeleton 2
mitochondrion 2
lysosome 2
golgi apparatus 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNX27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IDA 17644068
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IC 27385586
GO:0005769 early endosome IEA,IDA 20733053
genes like me logo Genes that share ontologies with SNX27: view

Pathways & Interactions for SNX27 Gene

PathCards logo

SuperPathways for SNX27 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001770 establishment of natural killer cell polarity TAS 17644068
GO:0006886 intracellular protein transport IEA,IMP 20733053
GO:0007165 signal transduction IEA --
GO:0008333 endosome to lysosome transport IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with SNX27: view

No data available for Pathways by source and SIGNOR curated interactions for SNX27 Gene

Drugs & Compounds for SNX27 Gene

No Compound Related Data Available

Transcripts for SNX27 Gene

mRNA/cDNA for SNX27 Gene

2 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX27

Alternative Splicing Database (ASD) splice patterns (SP) for SNX27 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1: - -
SP2: - - -
SP3: -
SP4: - - -
SP5:

Relevant External Links for SNX27 Gene

GeneLoc Exon Structure for
SNX27

Expression for SNX27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNX27 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNX27 Gene

This gene is overexpressed in Breast (27.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNX27 Gene



Protein tissue co-expression partners for SNX27 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNX27

SOURCE GeneReport for Unigene cluster for SNX27 Gene:

Hs.192326

mRNA Expression by UniProt/SwissProt for SNX27 Gene:

Q96L92-SNX27_HUMAN
Tissue specificity: Widely expressed. Expressed in cells of hematopoietic origin (at protein level).

Evidence on tissue expression from TISSUES for SNX27 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Eye(4.4)
  • Lung(4.2)
  • Kidney(2.7)
  • Intestine(2.5)
  • Blood(2.1)
  • Skin(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SNX27: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX27 Gene

Orthologs for SNX27 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNX27 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SNX27 30 31
  • 99.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SNX27 30 31
  • 95.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SNX27 30 31
  • 94.49 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SNX27 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Snx27 30 17 31
  • 93.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Snx27 30
  • 93 (n)
Chicken
(Gallus gallus)
Aves SNX27 30 31
  • 80.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNX27 31
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9886 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.5084 30
Zebrafish
(Danio rerio)
Actinopterygii snx27b 30
  • 76.27 (n)
snx27a 31
  • 72 (a)
OneToMany
zgc66094 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001110 30
  • 57.66 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG32758 30 31
  • 57.24 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea snx-27 30 31
  • 52.51 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Species where no ortholog for SNX27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SNX27 Gene

ENSEMBL:
Gene Tree for SNX27 (if available)
TreeFam:
Gene Tree for SNX27 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNX27: view image

Paralogs for SNX27 Gene

Paralogs for SNX27 Gene

(2) SIMAP similar genes for SNX27 Gene using alignment to 2 proteins:

  • SNX27_HUMAN
  • H7C603_HUMAN
genes like me logo Genes that share paralogs with SNX27: view

Variants for SNX27 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNX27 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
644220 Pathogenic: Severe myoclonic epilepsy in infancy 151,612,459(+) C/CG FRAMESHIFT_VARIANT
644438 Uncertain Significance: Severe myoclonic epilepsy in infancy 151,662,226(+) A/G MISSENSE_VARIANT
644512 Uncertain Significance: Severe myoclonic epilepsy in infancy 151,692,469(+) A/G MISSENSE_VARIANT
646435 Uncertain Significance: Severe myoclonic epilepsy in infancy 151,665,934(+) C/T MISSENSE_VARIANT
647171 Uncertain Significance: Severe myoclonic epilepsy in infancy 151,638,964(+) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SNX27 Gene

Structural Variations from Database of Genomic Variants (DGV) for SNX27 Gene

Variant ID Type Subtype PubMed ID
esv3587532 CNV loss 21293372
nsv2843 CNV deletion 18451855
nsv997511 CNV gain 25217958

Variation tolerance for SNX27 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNX27 Gene

Human Gene Mutation Database (HGMD)
SNX27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX27

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX27 Gene

Disorders for SNX27 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SNX27 Gene - From: ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SNX27 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNX27

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SNX27: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNX27 Gene

Publications for SNX27 Gene

  1. Sorting nexin 27 interacts with the Cytohesin associated scaffolding protein (CASP) in lymphocytes. (PMID: 17577583) MacNeil AJ … Pohajdak B (Biochemical and biophysical research communications 2007) 3 4 23
  2. Polarization of endosomal SNX27 in migrating and tumor-engaged natural killer cells. (PMID: 17644068) MacNeil AJ … Pohajdak B (Biochemical and biophysical research communications 2007) 3 4 23
  3. Proteomics identification of sorting nexin 27 as a diacylglycerol kinase zeta-associated protein: new diacylglycerol kinase roles in endocytic recycling. (PMID: 17351151) Rincón E … Mérida I (Molecular & cellular proteomics : MCP 2007) 3 4 23
  4. Sorting nexin 27 (SNX27) regulates the trafficking and activity of the glutamine transporter ASCT2. (PMID: 29563155) Yang Z … Teasdale RD (The Journal of biological chemistry 2018) 2 3
  5. A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport. (PMID: 23563491) Steinberg F … Cullen PJ (Nature cell biology 2013) 3 4

Products for SNX27 Gene

  • Signalway Proteins for SNX27

Sources for SNX27 Gene