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. Sever... See more...

Aliases for SNF8 Gene

Aliases for SNF8 Gene

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

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 Subunit Of ESCRT-II) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Budding and maturation of HIV virion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein C-terminus binding.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNF8 Gene

Genomics for SNF8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNF8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNF8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNF8

Top Transcription factor binding sites by QIAGEN in the SNF8 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • HEN1
  • MRF-2
  • NF-1
  • p53
  • STAT5B

Genomic Locations for SNF8 Gene

Latest Assembly
chr17:48,929,316-48,944,842
(GRCh38/hg38)
Size:
15,527 bases
Orientation:
Minus strand

Previous Assembly
chr17:47,006,678-47,022,204
(GRCh37/hg19 by Entrez Gene)
Size:
15,527 bases
Orientation:
Minus strand

chr17:47,006,678-47,022,479
(GRCh37/hg19 by Ensembl)
Size:
15,802 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:
  • ESCRT-II complex subunit VPS22 (SNF8_HUMAN)

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 Snf8<tm1a(EUCOMM)Wtsi>

miRNA for SNF8 Gene

miRTarBase miRNAs that target SNF8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
nucleus 5
endosome 5
cytosol 5
extracellular 4
mitochondrion 2
lysosome 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

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 IEA,TAS 20588296
GO:0005634 nucleus IEA,IDA 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:0006357 regulation of transcription by RNA polymerase II 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 IEA --
GO:0016197 endosomal transport TAS --
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

mRNA/cDNA for SNF8 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
17 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 SNF8

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

Expression for SNF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SNF8 Gene



Protein tissue co-expression partners for SNF8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.6)
  • Skin(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with SNF8: view

Primer products for research

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 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SNF8 29 30
  • 93.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SNF8 29 30
  • 93.54 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Snf8 29 16 30
  • 90.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Snf8 29
  • 90.7 (n)
Chimpanzee
(Pan troglodytes)
Mammalia SNF8 29
  • 90.34 (n)
Chicken
(Gallus gallus)
Aves SNF8 29 30
  • 80.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNF8 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia snf8 29
  • 76.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii snf8 29 30
  • 75.19 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000771 29
  • 59.46 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta lsn 29 30
  • 58.84 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea vps-22 29 30
  • 53.59 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14323g 29
  • 48.96 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF8 29 30 32
  • 48.53 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL002C 29
  • 46.22 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons VPS22 29
  • 55.92 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0529700 29
  • 52.76 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 59 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU07843 29
  • 51.54 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dot2 29
  • 46.88 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7124 29
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)
Aminode:
Evolutionary constrained regions (ECRs) for SNF8: view image
Alliance of Genome Resources:
Additional Orthologs for SNF8

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNF8 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs775611332 Uncertain Significance: Hirschsprung disease 48,931,653(-) C/T
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SNF8 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 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)

Additional Variant Information for SNF8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNF8
Leiden Open Variation Database (LOVD)
SNF8

SNP Genotyping and Copy Number Assays for research

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

Disorders for SNF8 Gene

Additional Disease Information for SNF8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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
  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
  3. Syndecan-syntenin-ALIX regulates the biogenesis of exosomes. (PMID: 22660413) Baietti MF … David G (Nature cell biology 2012) 3 4
  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
  5. Differential functions of Hrs and ESCRT proteins in endocytic membrane trafficking. (PMID: 18031739) Raiborg C … Stenmark H (Experimental cell research 2008) 3 4

Products for SNF8 Gene

Sources for SNF8 Gene