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Aliases for SNF8 Gene

Aliases for SNF8 Gene

  • SNF8, ESCRT-II Complex Subunit 2 3 5
  • ELL-Associated Protein Of 30 KDa 3 4
  • ESCRT-II Complex Subunit VPS22 3 4
  • EAP30 3 4
  • SNF8, ESCRT-II Complex Subunit, Homolog (S. Cerevisiae) 2
  • SNF8, ESCRT-II Complex Subunit, Homolog 3
  • EAP30 Subunit Of ELL Complex 3
  • HVps22 4
  • VPS22 3
  • Dot3 3

External Ids for SNF8 Gene

Previous GeneCards Identifiers for SNF8 Gene

  • GC17M044363
  • GC17M047007
  • GC17M042375

Summaries for SNF8 Gene

Entrez Gene Summary for SNF8 Gene

  • The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

GeneCards Summary for SNF8 Gene

SNF8 (SNF8, ESCRT-II Complex Subunit) is a Protein Coding gene. Among its related pathways are Endocytosis and Vesicle-mediated transport. GO annotations related to this gene include protein homodimerization activity and protein C-terminus binding.

UniProtKB/Swiss-Prot for SNF8 Gene

  • Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for SNF8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNF8 Gene

Genomics for SNF8 Gene

Regulatory Elements for SNF8 Gene

Promoters for SNF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNF8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SNF8 Gene

Chromosome:
17
Start:
48,929,316 bp from pter
End:
48,945,414 bp from pter
Size:
16,099 bases
Orientation:
Minus strand

Genomic View for SNF8 Gene

Genes around SNF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNF8 Gene

Proteins for SNF8 Gene

  • Protein details for SNF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96H20-SNF8_HUMAN
    Recommended name:
    Vacuolar-sorting protein SNF8
    Protein Accession:
    Q96H20
    Secondary Accessions:
    • Q8IXY3
    • Q9UN50

    Protein attributes for SNF8 Gene

    Size:
    258 amino acids
    Molecular mass:
    28864 Da
    Quaternary structure:
    • Component of the endosomal sorting complex required for transport II (ESCRT-II), composed of SNF8, VPS25 and VPS36. SNF8 is essential for the stability of the ESCRT-II complex. ESCRT-II interacts with ELL. Interacts with TSG101 (via the C-terminal domain). Interacts with RILPL1 (via the N-terminal domain); which recruits ESCRT-II to the endosome membranes. Interacts with 14-3-3 proteins.

    Three dimensional structures from OCA and Proteopedia for SNF8 Gene

    Alternative splice isoforms for SNF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNF8 Gene

Proteomics data for SNF8 Gene at MOPED

Post-translational modifications for SNF8 Gene

  • Ubiquitination at Lys 38 and Lys 134
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNF8 Gene

Domains & Families for SNF8 Gene

Gene Families for SNF8 Gene

Protein Domains for SNF8 Gene

Suggested Antigen Peptide Sequences for SNF8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96H20

UniProtKB/Swiss-Prot:

SNF8_HUMAN :
  • Belongs to the SNF8 family.
Family:
  • Belongs to the SNF8 family.
genes like me logo Genes that share domains with SNF8: view

Function for SNF8 Gene

Molecular function for SNF8 Gene

UniProtKB/Swiss-Prot Function:
Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Ontology (GO) - Molecular Function for SNF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008134 transcription factor binding IDA 10419521
GO:0042803 protein homodimerization activity IPI 14505570
genes like me logo Genes that share ontologies with SNF8: view
genes like me logo Genes that share phenotypes with SNF8: view

Animal Models for SNF8 Gene

MGI Knock Outs for SNF8:
  • Snf8 tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for SNF8 Gene

miRTarBase miRNAs that target SNF8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNF8 Gene

Localization for SNF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNF8 Gene

Cytoplasm. Endosome membrane. Nucleus. Late endosome membrane. Note=Recruited to the endosome membrane to participate in vesicle formation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNF8 Gene COMPARTMENTS Subcellular localization image for SNF8 gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
nucleus 5
plasma membrane 5
lysosome 2
mitochondrion 2
vacuole 2

Gene Ontology (GO) - Cellular Components for SNF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SNF8: view

Pathways & Interactions for SNF8 Gene

genes like me logo Genes that share pathways with SNF8: view

Pathways by source for SNF8 Gene

Gene Ontology (GO) - Biological Process for SNF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016197 endosomal transport TAS --
GO:0043328 protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IBA --
GO:0045022 early endosome to late endosome transport IMP 17714434
GO:0045732 positive regulation of protein catabolic process IMP 17959629
GO:0061635 regulation of protein complex stability IMP 17714434
genes like me logo Genes that share ontologies with SNF8: view

No data available for SIGNOR curated interactions for SNF8 Gene

Drugs & Compounds for SNF8 Gene

No Compound Related Data Available

Transcripts for SNF8 Gene

Unigene Clusters for SNF8 Gene

SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNF8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: - - - - -
SP2: - - - - -
SP3: - -
SP4: - - - - - - - - -
SP5: - -
SP6:
SP7:

Relevant External Links for SNF8 Gene

GeneLoc Exon Structure for
SNF8
ECgene alternative splicing isoforms for
SNF8

Expression for SNF8 Gene

mRNA expression in normal human tissues for SNF8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNF8 Gene

This gene is overexpressed in Adrenal (12.0) and Salivary gland (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNF8 Gene



SOURCE GeneReport for Unigene cluster for SNF8 Gene Hs.127249

genes like me logo Genes that share expression patterns with SNF8: view

Protein tissue co-expression partners for SNF8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SNF8 Gene

Orthologs for SNF8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNF8 35
  • 90.34 (n)
  • 87.3 (a)
cow
(Bos Taurus)
Mammalia SNF8 36
  • 99 (a)
OneToOne
SNF8 35
  • 93.93 (n)
  • 99.22 (a)
dog
(Canis familiaris)
Mammalia SNF8 35
  • 93.54 (n)
  • 99.61 (a)
SNF8 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snf8 16
Snf8 35
  • 90.83 (n)
  • 98.45 (a)
Snf8 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNF8 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snf8 35
  • 90.7 (n)
  • 98.45 (a)
chicken
(Gallus gallus)
Aves SNF8 35
  • 80.36 (n)
  • 92.64 (a)
SNF8 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNF8 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snf8 35
  • 76.98 (n)
  • 88.49 (a)
zebrafish
(Danio rerio)
Actinopterygii snf8 35
  • 75.19 (n)
  • 85.27 (a)
snf8 36
  • 86 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000771 35
  • 59.46 (n)
  • 52.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta lsn 35
  • 58.84 (n)
  • 52.23 (a)
lsn 36
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea vps-22 36
  • 47 (a)
OneToOne
vps-22 35
  • 53.59 (n)
  • 49.8 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL002C 35
  • 46.22 (n)
  • 39.61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF8 35
  • 48.53 (n)
  • 37.61 (a)
SNF8 36
  • 37 (a)
OneToOne
SNF8 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14323g 35
  • 48.96 (n)
  • 37.5 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS22 35
  • 55.92 (n)
  • 50.41 (a)
rice
(Oryza sativa)
Liliopsida Os09g0529700 35
  • 52.76 (n)
  • 48.34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07843 35
  • 51.54 (n)
  • 44.12 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dot2 35
  • 46.88 (n)
  • 35.37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7124 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToOne
Species with no ortholog for SNF8:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNF8 Gene

ENSEMBL:
Gene Tree for SNF8 (if available)
TreeFam:
Gene Tree for SNF8 (if available)

Paralogs for SNF8 Gene

Pseudogenes.org Pseudogenes for SNF8 Gene

genes like me logo Genes that share paralogs with SNF8: view

No data available for Paralogs for SNF8 Gene

Variants for SNF8 Gene

Sequence variations from dbSNP and Humsavar for SNF8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2132199 -- 48,945,889(+) gccaa(A/G)atggt upstream-variant-2KB
rs2132200 -- 48,937,392(-) GCTCG(A/G)TGTCC intron-variant
rs1994970 -- 48,936,765(-) AGTAG(A/G)GAGGT intron-variant
rs2270576 -- 48,930,601(-) CTGCT(A/G)AAGGA reference, synonymous-codon
rs3215074 -- 48,936,356(-) AAAAA(-/A)TTAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNF8 Gene

Variant ID Type Subtype PubMed ID
nsv482969 CNV Loss 15286789
nsv833472 CNV Gain 17160897
nsv2073 CNV Insertion 18451855

Variation tolerance for SNF8 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNF8 Gene

HapMap Linkage Disequilibrium report
SNF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNF8 Gene

Disorders for SNF8 Gene

Relevant External Links for SNF8

Genetic Association Database (GAD)
SNF8
Human Genome Epidemiology (HuGE) Navigator
SNF8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNF8

No disorders were found for SNF8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SNF8 Gene

Publications for SNF8 Gene

  1. Cloning and characterization of the EAP30 subunit of the ELL complex that confers derepression of transcription by RNA polymerase II. (PMID: 10419521) Schmidt A.E. … Shilatifard A. (J. Biol. Chem. 1999) 2 3 4 67
  2. Structure of the ESCRT-II endosomal trafficking complex. (PMID: 15329733) Hierro A. … Hurley J.H. (Nature 2004) 2 3 23
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Inhibition of ESCRT-II-CHMP6 interactions impedes cytokinetic abscission and leads to cell death. (PMID: 25232011) Goliand I. … Elia N. (Mol. Biol. Cell 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for SNF8 Gene

Sources for SNF8 Gene

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