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Aliases for SNF8 Gene

Aliases for SNF8 Gene

  • SNF8, ESCRT-II Complex Subunit 2 3
  • EAP30 3 4 6
  • ELL-Associated Protein Of 30 KDa 3 4
  • ESCRT-II Complex Subunit VPS22 3 4
  • HVps22 3 4
  • VPS22 3 6
  • SNF8, ESCRT-II Complex Subunit, Homolog (S. Cerevisiae) 2
  • SNF8, ESCRT-II Complex Subunit, Homolog 3
  • Vacuolar-Sorting Protein SNF8 3
  • EAP30 Subunit Of ELL Complex 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

  • SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SNF8 Gene

SNF8 (SNF8, ESCRT-II Complex Subunit) is a Protein Coding gene. Among its related pathways are Endocytosis and Clathrin derived vesicle budding. GO annotations related to this gene include transcription factor 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.

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

Genomic Location for SNF8 Gene

Start:
48,929,316 bp from pter
End:
48,945,117 bp from pter
Size:
15,802 bases
Orientation:
Minus strand

Genomic View for SNF8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys38 and Lys134
  • Modification sites at PhosphoSitePlus

Other Protein References for SNF8 Gene

No data available for DME Specific Peptides for SNF8 Gene

Domains 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 :
  • Q96H20
Family:
  • Belongs to the SNF8 family.
genes like me logo Genes that share domains with SNF8: view

No data available for Gene Families for SNF8 Gene

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.

Gene Ontology (GO) - Molecular Function for SNF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14505570
GO:0008022 protein C-terminus binding IPI 16973552
GO:0008134 transcription factor binding IDA 10419521
GO:0016247 channel regulator activity IDA 23171048
GO:0042803 protein homodimerization activity IPI 14505570
genes like me logo Genes that share ontologies with SNF8: view

Phenotypes for SNF8 Gene

MGI mutant phenotypes for SNF8:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with SNF8: view

Animal Model Products

CRISPR Products

miRNA for SNF8 Gene

miRTarBase miRNAs that target SNF8

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNF8

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
endosome 5
nucleus 5
cytosol 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for SNF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000814 ESCRT II complex IBA --
GO:0005634 nucleus IDA 23171048
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IDA 10419521
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SNF8: view

Pathways for SNF8 Gene

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

Pathways by source for SNF8 Gene

1 KEGG pathway for SNF8 Gene

Gene Ontology (GO) - Biological Process for SNF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 10419521
GO:0010628 positive regulation of gene expression IMP 22978549
GO:0010797 regulation of multivesicular body size involved in endosome transport IMP 17714434
GO:0015031 protein transport --
genes like me logo Genes that share ontologies with SNF8: view

Transcripts for SNF8 Gene

Unigene Clusters for SNF8 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNF8

Primer 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

Integrated Proteomics: protein expression 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 expressions with SNF8: view

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 35
  • 93.93 (n)
  • 99.22 (a)
SNF8 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNF8 35
  • 93.54 (n)
  • 99.61 (a)
SNF8 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snf8 35
  • 90.83 (n)
  • 98.45 (a)
Snf8 16
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 35
  • 53.59 (n)
  • 49.8 (a)
vps-22 36
  • 47 (a)
OneToOne
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 MAF
rs1055557 -- 48,930,398(-) TTTAT(A/C)CAAAA utr-variant-3-prime
rs1994970 -- 48,936,765(-) AGTAG(A/G)GAGGT intron-variant
rs2132199 -- 48,945,889(+) gccaa(A/G)atggt upstream-variant-2KB
rs2132200 -- 48,937,392(-) GCTCG(A/G)TGTCC intron-variant
rs2132201 -- 48,937,313(-) CTGGA(A/G)CCGTC 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

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

No data available for UniProtKB/Swiss-Prot for SNF8 Gene

Publications for SNF8 Gene

  1. Structure of the ESCRT-II endosomal trafficking complex. (PMID: 15329733) Hierro A. … Hurley J.H. (Nature 2004) 2 3 23
  2. 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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The protein network of HIV budding. (PMID: 14505570) von Schwedler U.K. … Sundquist W.I. (Cell 2003) 3 4
  5. Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins. (PMID: 14519844) Martin-Serrano J. … Bieniasz P.D. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4

Products for SNF8 Gene

Sources for SNF8 Gene

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