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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
  • Vacuolar-Sorting Protein SNF8 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 Vesicle-mediated transport and Endocytosis. 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

Additional gene information for SNF8 Gene

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

Genomics for SNF8 Gene

Regulatory Elements for SNF8 Gene

Enhancers for SNF8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H049020 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.7 -76.6 -76581 3 ARID4B ZSCAN9 RFX5 EGR1 SCRT2 RCOR1 ZNF362 HMG20B CEBPB NFYC SNF8 PRAC1 RNU1-42P ENSG00000230532 ENSG00000238804 PRAC2 HOXB-AS4 HOXB9 IGF2BP1 ENSG00000255851
GH17H049190 1.9 FANTOM5 Ensembl ENCODE 10.2 -247.3 -247326 4 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZC3H11A NFYC ENSG00000262837 UBE2Z FAM117A ENSG00000230532 FLJ45513 KAT7 CALCOCO2 SPOP PICART1 TAC4
GH17H049387 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -444.2 -444202 4 PKNOX1 ATF1 ZNF133 FEZF1 DMAP1 TCF12 GTF3C2 GATA2 FOS ATF7 ZNF652 UBE2Z ENSG00000262837 SPOP LOC102724596 ENSG00000207127 PHB FLJ45513 ABI3 SNF8
GH17H049758 1.9 VISTA Ensembl ENCODE dbSUPER 10.1 -816.5 -816536 6 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF207 FOS ENSG00000262837 UBE2Z LUC7L3 FAM117A FLJ45513 SPOP COL1A1 TAC4 SLC35B1 ITGA3
GH17H048914 1.3 Ensembl ENCODE dbSUPER 12.5 +29.9 29889 3 HDGF SIN3A YBX1 EBF1 BATF RELA ZNF121 EED FOS ATF7 UBE2Z SNF8 RNU1-42P ENSG00000238804 ATP5G1 TTLL6 PRAC1 PRAC2 NFE2L1 SUMO2P17
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNF8 on UCSC Golden Path with GeneCards custom track

Promoters for SNF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095411 914 1401 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 CBX5 ZNF207

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

Post-translational modifications for SNF8 Gene

  • Ubiquitination at Lys38 and Lys134
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNF8 Gene

Domains & Families for SNF8 Gene

Gene Families for SNF8 Gene

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

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).

Phenotypes From GWAS Catalog for SNF8 Gene

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
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

CRISPR Products

miRNA for SNF8 Gene

miRTarBase miRNAs that target SNF8

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNF8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 SNF8 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
endosome 5
mitochondrion 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000814 ESCRT II complex TAS 20588296
GO:0005634 nucleus IDA,IEA 23171048
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IDA 10419521
GO:0005737 cytoplasm IEA,IDA 22978549
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 10419521
GO:0006810 transport IEA --
GO:0010628 positive regulation of gene expression IMP 22978549
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNF8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SNF8 Gene



Protein tissue co-expression partners for SNF8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNF8 Gene:

SNF8

SOURCE GeneReport for Unigene cluster for SNF8 Gene:

Hs.127249

Evidence on tissue expression from TISSUES for SNF8 Gene

  • Pancreas(4.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with SNF8: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
oppossum
(Monodelphis domestica)
Mammalia SNF8 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNF8 33 34
  • 93.93 (n)
dog
(Canis familiaris)
Mammalia SNF8 33 34
  • 93.54 (n)
mouse
(Mus musculus)
Mammalia Snf8 33 16 34
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Snf8 33
  • 90.7 (n)
chimpanzee
(Pan troglodytes)
Mammalia SNF8 33
  • 90.34 (n)
chicken
(Gallus gallus)
Aves SNF8 33 34
  • 80.36 (n)
lizard
(Anolis carolinensis)
Reptilia SNF8 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snf8 33
  • 76.98 (n)
zebrafish
(Danio rerio)
Actinopterygii snf8 33 34
  • 75.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000771 33
  • 59.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta lsn 34 33
  • 58.84 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea vps-22 34 33
  • 53.59 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14323g 33
  • 48.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF8 33 34 36
  • 48.53 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL002C 33
  • 46.22 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS22 33
  • 55.92 (n)
rice
(Oryza sativa)
Liliopsida Os09g0529700 33
  • 52.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07843 33
  • 51.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dot2 33
  • 46.88 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7124 33
Species where no ortholog for SNF8 was found in the sources mined by GeneCards:
  • 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
rs1000139247 -- 48,939,036(+) GGTGG(A/G)TCACG intron-variant
rs1000756022 -- 48,942,592(+) CCCCC(C/G)ATCAC intron-variant
rs1000824579 -- 48,941,296(+) TTTCA(C/T)GTATT intron-variant
rs1000938767 -- 48,936,835(+) CAATC(A/G)TTCAG intron-variant
rs1001019127 -- 48,943,590(+) GCAAC(A/T)GAGCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv2073 CNV insertion 18451855
nsv482969 CNV loss 15286789
nsv833472 CNV gain 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. Structure of the ESCRT-II endosomal trafficking complex. (PMID: 15329733) Hierro A … Hurley JH (Nature 2004) 2 3 22 60
  2. Cloning and characterization of the EAP30 subunit of the ELL complex that confers derepression of transcription by RNA polymerase II. (PMID: 10419521) Schmidt AE … Shilatifard A (The Journal of biological chemistry 1999) 2 3 4 60
  3. Syndecan-syntenin-ALIX regulates the biogenesis of exosomes. (PMID: 22660413) Baietti MF … David G (Nature cell biology 2012) 3 4 60
  4. Integrated structural model and membrane targeting mechanism of the human ESCRT-II complex. (PMID: 18539118) Im YJ … Hurley JH (Developmental cell 2008) 3 4 60
  5. Differential functions of Hrs and ESCRT proteins in endocytic membrane trafficking. (PMID: 18031739) Raiborg C … Stenmark H (Experimental cell research 2008) 3 4 60

Products for SNF8 Gene

Sources for SNF8 Gene

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