Aliases for SNX8 Gene

Aliases for SNX8 Gene

  • Sorting Nexin 8 2 3 5
  • Sorting Nexin-8 3 4
  • Mvp1 3

External Ids for SNX8 Gene

Previous GeneCards Identifiers for SNX8 Gene

  • GC07M001939
  • GC07M002039
  • GC07M002040
  • GC07M002068
  • GC07M002261

Summaries for SNX8 Gene

GeneCards Summary for SNX8 Gene

SNX8 (Sorting Nexin 8) is a Protein Coding gene. Diseases associated with SNX8 include Tetralogy Of Fallot. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphatidylinositol binding. An important paralog of this gene is SNX2.

UniProtKB/Swiss-Prot Summary for SNX8 Gene

  • May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network.

Additional gene information for SNX8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNX8 Gene

Genomics for SNX8 Gene

GeneHancer (GH) Regulatory Elements for SNX8 Gene

Promoters and enhancers for SNX8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J002352 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.8 -767 4.2 E2F8 ZBTB40 SP1 SREBF1 SIX5 ZBTB6 RBPJ POLR2A TCF7L2 USF2 EIF3B SNX8 lnc-MRM2-1 BRAT1 INTS1 IQCE PSMG3-AS1 ENSG00000273230 MAFK ENSG00000225981
GH07J002309 Promoter/Enhancer 1.9 EPDnew FANTOM5 ENCODE CraniofacialAtlas 772 +42.0 42039 5.7 ZNF785 ZNF24 SP1 MLX SMARCE1 POLR2A USF2 HDAC2 MYC ELF1 SNX8 BRAT1 EIF3B MRM2 CHST12 INTS1 NUDT1 MAD1L1 piR-35674-462 RF00017-5969
GH07J002325 Enhancer 0.7 FANTOM5 Ensembl 32.5 +28.4 28417 2.6 SMARCE1 SMARCA4 IKZF1 HDAC1 CTBP1 ZBTB33 SNX8 EIF3B MRM2 NUDT1 MAD1L1 ENSG00000230914 CHST12 LFNG RF00017-5969 lnc-MRM2-1
GH07J002298 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 13.8 +54.1 54099 3.8 ZNF24 SP1 SMARCE1 ETV6 RELA L3MBTL2 POU5F1 TEAD4 NKRF POLR2A RF00017-5968 piR-36393-468 piR-50308-569 MRM2 SNX8 NUDT1 MAD1L1 LFNG
GH07J002317 Enhancer 0.7 FANTOM5 Ensembl 20.7 +36.6 36617 1.8 ZNF24 ZNF121 ZNF384 EGR1 ZFHX2 RFX5 ZFP91 SNX8 MRM2 NUDT1 MAD1L1 RF00017-5969 piR-35674-462
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNX8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNX8 gene promoter:
  • ATF6
  • CREB
  • deltaCREB
  • Egr-4
  • Meis-1a
  • Pax-3
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SNX8 Gene

Genomic Locations for SNX8 Gene
chr7:2,251,770-2,354,318
(GRCh38/hg38)
Size:
102,549 bases
Orientation:
Minus strand
chr7:2,291,405-2,393,953
(GRCh37/hg19)
Size:
102,549 bases
Orientation:
Minus strand

Genomic View for SNX8 Gene

Genes around SNX8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX8 Gene

Proteins for SNX8 Gene

  • Protein details for SNX8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5X2-SNX8_HUMAN
    Recommended name:
    Sorting nexin-8
    Protein Accession:
    Q9Y5X2
    Secondary Accessions:
    • A4D207
    • Q96I67

    Protein attributes for SNX8 Gene

    Size:
    465 amino acids
    Molecular mass:
    52569 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SNX8 Gene

Post-translational modifications for SNX8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SNX8

No data available for DME Specific Peptides for SNX8 Gene

Domains & Families for SNX8 Gene

Gene Families for SNX8 Gene

Protein Domains for SNX8 Gene

Suggested Antigen Peptide Sequences for SNX8 Gene

GenScript: Design optimal peptide antigens:
  • Sorting nexin-8 (SNX8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5X2

UniProtKB/Swiss-Prot:

SNX8_HUMAN :
  • Belongs to the sorting nexin family.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX8: view

Function for SNX8 Gene

Molecular function for SNX8 Gene

UniProtKB/Swiss-Prot Function:
May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network.

Phenotypes From GWAS Catalog for SNX8 Gene

Gene Ontology (GO) - Molecular Function for SNX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding IEA,IMP 19782049
GO:0042802 identical protein binding IPI 23085988
genes like me logo Genes that share ontologies with SNX8: view
genes like me logo Genes that share phenotypes with SNX8: view

Animal Models for SNX8 Gene

MGI Knock Outs for SNX8:
  • Snx8 Snx8<tm2a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNX8 Gene

Localization for SNX8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX8 Gene

Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with retromer components.

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 SNX8 gene
Compartment Confidence
endosome 5
cytosol 4
nucleus 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0030904 colocalizes_with retromer complex IDA 19782049
GO:0031901 early endosome membrane IDA,IEA 19782049
genes like me logo Genes that share ontologies with SNX8: view

Pathways & Interactions for SNX8 Gene

PathCards logo

SuperPathways for SNX8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IMP 19782049
GO:0015031 protein transport IEA --
GO:0034498 early endosome to Golgi transport IMP 19782049
GO:0042147 retrograde transport, endosome to Golgi IEA --
genes like me logo Genes that share ontologies with SNX8: view

No data available for Pathways by source and SIGNOR curated interactions for SNX8 Gene

Drugs & Compounds for SNX8 Gene

No Compound Related Data Available

Transcripts for SNX8 Gene

mRNA/cDNA for SNX8 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNX8 Gene

No ASD Table

Relevant External Links for SNX8 Gene

GeneLoc Exon Structure for
SNX8
ECgene alternative splicing isoforms for
SNX8

Expression for SNX8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNX8 Gene

Protein differential expression in normal tissues from HIPED for SNX8 Gene

This gene is overexpressed in Adrenal (13.8), Testis (11.0), Plasma (8.9), and Spleen (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNX8 Gene



Protein tissue co-expression partners for SNX8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SNX8 Gene:

SNX8

SOURCE GeneReport for Unigene cluster for SNX8 Gene:

Hs.584900

Evidence on tissue expression from TISSUES for SNX8 Gene

  • Kidney(4.4)
  • Lung(4.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with SNX8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX8 Gene

Orthologs for SNX8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SNX8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX8 33 32
  • 99 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNX8 33
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNX8 33 32
  • 86.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snx8 32
  • 85.84 (n)
mouse
(Mus musculus)
Mammalia Snx8 17 33 32
  • 85.62 (n)
cow
(Bos Taurus)
Mammalia SNX8 33 32
  • 85.19 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX8 33
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX8 33 32
  • 77.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNX8 33
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx8 32
  • 71.37 (n)
zebrafish
(Danio rerio)
Actinopterygii snx8a 33 32
  • 67.2 (n)
OneToMany
snx8b 33 33
  • 52 (a)
OneToMany
-- 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012012 32
  • 44.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MVP1 35 33
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8073 33
  • 43 (a)
OneToOne
Species where no ortholog for SNX8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for SNX8 Gene

ENSEMBL:
Gene Tree for SNX8 (if available)
TreeFam:
Gene Tree for SNX8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNX8: view image

Paralogs for SNX8 Gene

genes like me logo Genes that share paralogs with SNX8: view

Variants for SNX8 Gene

Sequence variations from dbSNP and Humsavar for SNX8 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
VAR_036259 A colorectal cancer sample p.Ala147Gly
rs1000000608 -- 2,261,182(-) C/T intron_variant
rs1000025529 -- 2,303,111(-) G/A/T intron_variant
rs1000026037 -- 2,317,303(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000043891 -- 2,334,328(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SNX8 Gene

Variant ID Type Subtype PubMed ID
dgv3475n106 CNV duplication 24896259
esv1000840 CNV deletion 20482838
esv2761136 CNV gain 21179565
esv3611836 CNV loss 21293372
nsv1018563 CNV gain 25217958
nsv1021173 CNV loss 25217958
nsv1021310 CNV loss 25217958
nsv823980 CNV gain 20364138
nsv830886 CNV loss 17160897

Variation tolerance for SNX8 Gene

Residual Variation Intolerance Score: 8.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNX8 Gene

Human Gene Mutation Database (HGMD)
SNX8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX8 Gene

Disorders for SNX8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNX8 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
tetralogy of fallot
  • tof
- elite association - COSMIC cancer census association via MalaCards
Search SNX8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNX8

genes like me logo Genes that share disorders with SNX8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNX8 Gene

Publications for SNX8 Gene

  1. Sorting nexin 8 regulates endosome-to-Golgi transport. (PMID: 19782049) Dyve AB … Sandvig K (Biochemical and biophysical research communications 2009) 3 4 23 56
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 56
  4. A large family of endosome-localized proteins related to sorting nexin 1. (PMID: 11485546) Teasdale RD … Gleeson PA (The Biochemical journal 2001) 3 4 56
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 56

Products for SNX8 Gene

Sources for SNX8 Gene