This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins ... See more...

Aliases for SNX13 Gene

Aliases for SNX13 Gene

  • Sorting Nexin 13 2 3 5
  • RGS-PX1 2 3 4
  • Sorting Nexin-13 3 4
  • KIAA0713 2 4
  • Rgs Domain- And Phox Domain-Containing Protein 3
  • RGS Domain- And PHOX Domain-Containing Protein 4
  • SNX13 5

External Ids for SNX13 Gene

Previous GeneCards Identifiers for SNX13 Gene

  • GC07M017477
  • GC07M017576
  • GC07M017605

Summaries for SNX13 Gene

Entrez Gene Summary for SNX13 Gene

  • This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNX13 Gene

SNX13 (Sorting Nexin 13) is a Protein Coding gene. Diseases associated with SNX13 include Spinocerebellar Ataxia, Autosomal Recessive 20 and Choreoacanthocytosis. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is SNX25.

UniProtKB/Swiss-Prot Summary for SNX13 Gene

  • May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas.

Gene Wiki entry for SNX13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNX13 Gene

Genomics for SNX13 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around SNX13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNX13

Top Transcription factor binding sites by QIAGEN in the SNX13 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LCR-F1
  • NF-1
  • NF-1/L

Genomic Locations for SNX13 Gene

Latest Assembly
chr7:17,790,761-17,940,507
(GRCh38/hg38)
Size:
149,747 bases
Orientation:
Minus strand

Previous Assembly
chr7:17,830,385-17,980,117
(GRCh37/hg19 by Entrez Gene)
Size:
149,733 bases
Orientation:
Minus strand

chr7:17,830,385-17,980,124
(GRCh37/hg19 by Ensembl)
Size:
149,740 bases
Orientation:
Minus strand

Genomic View for SNX13 Gene

Genes around SNX13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX13 Gene

Proteins for SNX13 Gene

  • Protein details for SNX13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5W8-SNX13_HUMAN
    Recommended name:
    Sorting nexin-13
    Protein Accession:
    Q9Y5W8
    Secondary Accessions:
    • B2RCI9
    • O94821
    • Q8WVZ2
    • Q8WXH8

    Protein attributes for SNX13 Gene

    Size:
    968 amino acids
    Molecular mass:
    112189 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH22060.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA34433.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SNX13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX13 Gene

Post-translational modifications for SNX13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SNX13 Gene

Domains & Families for SNX13 Gene

Gene Families for SNX13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SNX13 Gene

InterPro:
Blocks:
  • Regulator of G-protein signalling (RGS) protein signature
  • Sorting nexin, C-terminal
  • PX-associated

Suggested Antigen Peptide Sequences for SNX13 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ13678 fis, clone PLACE1012031, highly similar to Sorting nexin-13 (B3KN60_HUMAN)
  • Sorting nexin 13 (Q86XC4_HUMAN)
  • RGS-PX1 (SNX13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5W8

UniProtKB/Swiss-Prot:

SNX13_HUMAN :
  • The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.
  • Belongs to the sorting nexin family.
Domain:
  • The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX13: view

Function for SNX13 Gene

Molecular function for SNX13 Gene

UniProtKB/Swiss-Prot Function:
May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas.

Phenotypes From GWAS Catalog for SNX13 Gene

Gene Ontology (GO) - Molecular Function for SNX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 25148684
GO:0035091 phosphatidylinositol binding IEA,IDA 11729322
genes like me logo Genes that share ontologies with SNX13: view
genes like me logo Genes that share phenotypes with SNX13: view

Animal Models for SNX13 Gene

MGI Knock Outs for SNX13:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNX13 Gene

Localization for SNX13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX13 Gene

Early endosome membrane. Peripheral membrane protein. Cytoplasmic side.

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 SNX13 gene
Compartment Confidence
endosome 5
endoplasmic reticulum 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SNX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 11729322
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with SNX13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNX13 Gene

Pathways & Interactions for SNX13 Gene

PathCards logo

SuperPathways for SNX13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IMP 11729322
GO:0009968 negative regulation of signal transduction IEA --
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA,IDA 11729322
genes like me logo Genes that share ontologies with SNX13: view

No data available for Pathways by source and SIGNOR curated interactions for SNX13 Gene

Drugs & Compounds for SNX13 Gene

(1) Drugs for SNX13 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SNX13: view

Transcripts for SNX13 Gene

mRNA/cDNA for SNX13 Gene

8 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX13

Alternative Splicing Database (ASD) splice patterns (SP) for SNX13 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5:
SP6: - - -

ExUns: 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for SNX13 Gene

GeneLoc Exon Structure for
SNX13

Expression for SNX13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNX13 Gene

Protein differential expression in normal tissues from HIPED for SNX13 Gene

This gene is overexpressed in Platelet (18.7), Placenta (11.5), Retina (7.7), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SNX13 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNX13

SOURCE GeneReport for Unigene cluster for SNX13 Gene:

Hs.487648

Evidence on tissue expression from TISSUES for SNX13 Gene

  • Nervous system(4.5)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with SNX13: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX13 Gene

Orthologs for SNX13 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNX13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SNX13 29 30
  • 99.69 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SNX13 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SNX13 29 30
  • 95.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SNX13 29 30
  • 93.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Snx13 29 16 30
  • 93.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SNX13 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Snx13 29
  • 90.77 (n)
Chicken
(Gallus gallus)
Aves SNX13 29 30
  • 84.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNX13 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia snx13 29
  • 79.77 (n)
Str.19364 29
Zebrafish
(Danio rerio)
Actinopterygii snx13 29 30
  • 70.17 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y116A8C.26 29
  • 47.29 (n)
snx-13 30
  • 34 (a)
OneToOne
Y116A8C.26 31
  • 33 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.737 30
  • 42 (a)
OneToMany
-- 30
  • 30 (a)
OneToMany
Species where no ortholog for SNX13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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 SNX13 Gene

ENSEMBL:
Gene Tree for SNX13 (if available)
TreeFam:
Gene Tree for SNX13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNX13: view image
Alliance of Genome Resources:
Additional Orthologs for SNX13

Paralogs for SNX13 Gene

Paralogs for SNX13 Gene

(1) SIMAP similar genes for SNX13 Gene using alignment to 7 proteins:

  • SNX13_HUMAN
  • B3KN60_HUMAN
  • B8ZZT9_HUMAN
  • F8W8A9_HUMAN
  • F8WB11_HUMAN
  • L8E8M6_HUMAN
  • Q86XC4_HUMAN
genes like me logo Genes that share paralogs with SNX13: view

Variants for SNX13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNX13 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs114305656 Benign: not provided 17,890,353(-) G/A
NM_015132.5(SNX13):c.440+10C>T
INTRON
rs187890598 Benign: not provided 17,839,912(-) T/C
NM_015132.5(SNX13):c.1254A>G (p.Glu418=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs34649849 Benign: not specified 17,814,952(-) G/GAA
NM_015132.5(SNX13):c.1954-22_1954-21dup
INTRON
rs35113148 -- p.Leu472Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SNX13 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SNX13 Gene

Variant ID Type Subtype PubMed ID
esv1984816 CNV deletion 18987734
esv23642 CNV loss 19812545
esv2463128 CNV deletion 19546169
esv2734066 CNV deletion 23290073
esv2734067 CNV deletion 23290073
esv2734068 CNV deletion 23290073
esv2734069 CNV deletion 23290073
esv2734070 CNV deletion 23290073
esv993770 CNV deletion 20482838
esv996210 CNV gain 20482838
nsv1022746 CNV gain 25217958
nsv1025023 CNV gain 25217958
nsv1161506 CNV duplication 26073780
nsv365749 CNV deletion 16902084
nsv606357 CNV gain 21841781
nsv830913 CNV gain+loss 17160897

Variation tolerance for SNX13 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNX13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX13
Leiden Open Variation Database (LOVD)
SNX13

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX13 Gene

Disorders for SNX13 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SNX13 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search SNX13 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNX13

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SNX13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNX13 Gene

Publications for SNX13 Gene

  1. RGS-PX1, a GAP for GalphaS and sorting nexin in vesicular trafficking. (PMID: 11729322) Zheng B … Farquhar MG (Science (New York, N.Y.) 2001) 2 3 4 22
  2. A large family of endosome-localized proteins related to sorting nexin 1. (PMID: 11485546) Teasdale RD … Gleeson PA (The Biochemical journal 2001) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman RT … Brenner SE (Genome biology 2004) 3 4

Products for SNX13 Gene

Sources for SNX13 Gene