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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNF8 Gene

protein-coding   GIFtS: 57
GCID: GC17M047007

SNF8, ESCRT-II Complex Subunit

(Previous names: SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae))
Microbiology & Infectious Diseases Congress
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SNF8, ESCRT-II Complex Subunit1 2     SNF8, ESCRT-II Complex Subunit, Homolog (S. Cerevisiae)1
EAP302 3 5     Dot32
ELL-Associated Protein Of 30 KDa2 3     EAP30 Subunit Of ELL Complex2
ESCRT-II Complex Subunit VPS222 3     SNF8, ESCRT-II Complex Subunit, Homolog2
hVps222 3     Vacuolar-Sorting Protein SNF82
VPS222 5     

External Ids:    HGNC: 170281   Entrez Gene: 112672   Ensembl: ENSG000001592107   OMIM: 6109045   UniProtKB: Q96H203   

Export aliases for SNF8 gene to outside databases

Previous GC identifers: GC17M044363 GC17M042375


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with SNF8 include gigantism, and among its related super-pathways are Budding and maturation of HIV virion and Translocation of GLUT4 to the Plasma Membrane. GO annotations related to this gene include transcription factor binding.

UniProtKB/Swiss-Prot: SNF8_HUMAN, Q96H20
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 Wiki entry for SNF8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNF8 gene promoter:
         STAT5B   NF-1   p53   AP-1   ATF-2   CREB   HEN1   deltaCREB   c-Jun   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNF8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNF8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNF8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

SNF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNF8 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M047007:  view genomic region     (about GC identifiers)

Start:
47,006,678 bp from pter      End:
47,022,479 bp from pter
Size:
15,802 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNF8_HUMAN, Q96H20 (See protein sequence)
Recommended Name: Vacuolar-sorting protein SNF8  
Size: 258 amino acids; 28864 Da
Subunit: 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
Subcellular location: Cytoplasm. Endosome membrane. Nucleus (Probable). Late endosome membrane. Note=Recruited to
the endosome membrane to participate in vesicle formation
2 PDB 3D structures from and Proteopedia for SNF8:
2ZME (3D)        3CUQ (3D)    
Secondary accessions: Q8IXY3 Q9UN50
Alternative splicing: 2 isoforms:  Q96H20-1   Q96H20-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNF8: NX_Q96H20

Explore proteomics data for SNF8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96H20

  • SNF8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNF8 Protein Expression
    REFSEQ proteins: NP_009172.2  
    ENSEMBL proteins: 
     ENSP00000421380   ENSP00000421956   ENSP00000421390   ENSP00000290330   ENSP00000467548  
     ENSP00000460981   ENSP00000460001   ENSP00000422701   ENSP00000427328  
    Reactome Protein details: Q96H20
    Human Recombinant Protein Products for SNF8: 
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    Novus Biologicals SNF8 Lysates
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    ProSpec Recombinant Protein for SNF8
    Cloud-Clone Corp. Proteins for SNF8 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex IDA10419521
    GO:0005829cytosol TAS--
    GO:0031902late endosome membrane IEA--

    SNF8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR007286 EAP30
     IPR016689 ESCRT-2_cplx_Snf8

    Graphical View of Domain Structure for InterPro Entry Q96H20

    ProtoNet protein and cluster: Q96H20

    UniProtKB/Swiss-Prot: SNF8_HUMAN, Q96H20
    Similarity: Belongs to the SNF8 family


    SNF8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNF8_HUMAN, Q96H20
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19819239
    GO:0008134transcription factor binding IDA10419521
         
    SNF8 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Snf8):
     mortality/aging 

    SNF8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNF8 
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    SwitchGear 3'UTR luciferase reporter plasmidSNF8 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SNF8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Endosomal Sorting Complex Required For Transport (ESCRT)
    Endosomal Sorting Complex Required For Transport (ESCRT)0.71
    2Membrane Trafficking
    Membrane Trafficking0.32
    3Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for SNF8
        Membrane Trafficking
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1         Kegg Pathway  (Kegg details for SNF8):
        Endocytosis


    SNF8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNF8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/67 Interacting proteins for SNF8 (Q96H202, 3 ENSP000002903304) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MCM2P497362, 3, ENSP000002650564MINT-7277018 MINT-7276960 MINT-7276989 MINT-7277121 MINT-7277061 MINT-7276971 MINT-7277137 MINT-7277168 I2D: score=1 STRING: ENSP00000265056
    ELLP551992, 3, ENSP000002628094MINT-7277072 MINT-7277085 MINT-7277100 I2D: score=3 STRING: ENSP00000262809
    POLR2AP249282, 3, ENSP000003149494MINT-7277005 MINT-7277033 I2D: score=1 STRING: ENSP00000314949
    VPS25Q9BRG12, 3, ENSP000002537944MINT-67113 I2D: score=9 STRING: ENSP00000253794
    HIST1H2BCP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA10419521
    GO:0015031protein transport IEA--
    GO:0016197endosomal transport TAS--

    SNF8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNF8

    Search CenterWatch for drugs/clinical trials and news about SNF8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SNF8 gene: 
    NM_007241.2  

    Unigene Cluster for SNF8:

    SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)
    Hs.127249  [show with all ESTs]
    Unigene Representative Sequence: BF569053
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502492(uc002ioj.3 uc002iok.3) ENST00000509995 ENST00000510558
    ENST00000290330 ENST00000514089 ENST00000515572 ENST00000504000 ENST00000509989
    ENST00000573795 ENST00000576353 ENST00000507302 ENST00000514929 ENST00000512243
    ENST00000511214 ENST00000506104 ENST00000515174 ENST00000510195
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SNF8:
    hsa-miR-890 hsa-miR-124 hsa-miR-548am hsa-miR-548x hsa-miR-506 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidSNF8 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF156102.1 AK123127.1 BC008976.1 BC038830.1 

    17 DOTS entries:

    DT.91759202  DT.75101070  DT.99931992  DT.99957834  DT.95343532  DT.40129468  DT.95357441  DT.91759209 
    DT.100792662  DT.211861  DT.97847020  DT.100792661  DT.92032186  DT.211859  DT.91759204  DT.120911427 
    DT.121157967 

    24/202 AceView cDNA sequences (see all 202):

    BE811613 AI453152 BU508306 AW168378 BU726184 AA746480 BU838248 CA867945 
    CD364645 BM904751 BQ014754 BE705936 BE894792 AW468227 BU517065 BM713141 
    BM423679 CR623268 BE645798 CR616160 BE550674 BM718176 BU844952 CD672691 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SNF8 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for SNF8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SNF8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAAGGGCA
    SNF8 Expression
    About this image


    See SNF8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNF8

    SOURCE GeneReport for Unigene cluster: Hs.127249
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNF8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SNF8 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snf81 , 5 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)1, 5 90.83(n)1
    98.45(a)1
      11 (59.24 cM)5
    276811  NM_033568.21  NP_291046.11 
     960348855 
    chicken
    (Gallus gallus)
    Aves SNF81 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) 80.36(n)
    92.64(a)
      419990  XM_418112.3  XP_418112.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNF86
    Uncharacterized protein
    93(a)
    1 ↔ 1
    6(75968571-75982586)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF150353.12   -- 78.54(n)    CF150353.1 
    zebrafish
    (Danio rerio)
    Actinopterygii snf81 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) 75.19(n)
    85.27(a)
      492771  NM_001007412.1  NP_001007413.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lsn1 larsen 58.7(n)
    52.23(a)
      42572  NM_142730.2  NP_650987.1 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-221 Protein VPS-22 53.59(n)
    49.8(a)
      175672  NM_065651.3  NP_498052.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF8(YPL002C)4
    SNF81
    Component of the ESCRT-II complex, which is involved more4
    Snf8p1
    48.53(n)1
    37.61(a)1
      16(554328-553627)4
    8561051, 4  NP_015323.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS221 ESCRT-II complex subunit VPS22 55.92(n)
    50.41(a)
      828812  NM_001125593.1  NP_001119065.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05297001 hypothetical protein 52.76(n)
    48.34(a)
      9269587  NM_001189023.1  NP_001175952.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNF8 gene

    SNF8 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SNF8
    PGOHUM00000240544


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/391 SNPs in SNF8 are shown (see all 391)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129416041,2
    C,F,H--47007013(+) ATGAAG/AGCATG 1 -- int122Minor allele frequency- A:0.12EA NA NS WA 2556
    rs1380812151,2
    --47007069(+) CTGGCA/GGCCCC 1 -- int10--------
    rs569042881,2
    C,F--47007149(+) GTATGT/AAAAAT 1 -- int15Minor allele frequency- A:0.25WA CSA NA 244
    rs575084131,2
    C,F--47007166(+) GGGTAG/CGTGTT 1 -- int16Minor allele frequency- C:0.17WA CSA NA EA 364
    rs1145551841,2
    C,F--47007354(+) TATTTC/ACTTCA 1 -- int11Minor allele frequency- A:0.06WA 118
    rs608441581,2
    C,F--47007415(+) AAGAGA/CCTGAA 1 -- int16Minor allele frequency- C:0.17WA CSA NA EA 364
    rs1479417441,2
    C--47007460(+) TAGTT-/TGAGA 
            
    TAAGG
    1 -- ut310--------
    rs2017193341,2
    C--47007461(+) AGTTTA/GAGATA 1 -- ut310--------
    rs169447621,2
    C,F,H--47007497(+) AATTAG/ACATAG 1 -- ut3128Minor allele frequency- A:0.22NA NS EA WA CSA 2790
    rs1880051661,2
    --47007541(+) GACAGA/GCCAGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SNF8 (47006678 - 47022479 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SNF8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2073CNV Insertion18451855
    nsv482969CNV Loss15286789
    nsv833472CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610904    OMIM disorders: --

    2 diseases for SNF8:    About MalaCards
    gigantism    


    SNF8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SNF8
    Human Genome Epidemiology (HuGE) Navigator: SNF8 (1 document)

    Export disorders for SNF8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SNF8 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with SNF8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the EAP30 subunit of the ELL complex that confers derepression of transcription by RNA polymerase II. (PubMed id 10419521)1, 2, 3 Schmidt A.E.... Shilatifard A. (1999)
    2. Structure of the ESCRT-II endosomal trafficking compl ex. (PubMed id 15329733)1, 3, 9 Hierro A....Hurley J.H. (2004)
    3. Integrated structural model and membrane targeting mechanism of the human ESCRT-II complex. (PubMed id 18539118)1, 2 Im Y.J. and Hurley J.H. (2008)
    4. Vps22/EAP30 in ESCRT-II mediates endosomal sorting of growth factor and chemokine receptors destined for lysosomal degradation. (PubMed id 17714434)1, 2 Malerod L....Stenmark H. (2007)
    5. RILP interacts with VPS22 and VPS36 of ESCRT-II and regulates their membrane recruitment. (PubMed id 17010938)1, 2 Wang T. and Hong W. (2006)
    6. Human ESCRT-II complex and its role in human immunodeficiency virus type 1 release. (PubMed id 16973552)1, 2 Langelier C.... Sundquist W.I. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The protein network of HIV budding. (PubMed id 14505570)1, 2 von Schwedler U.K.... Sundquist W.I. (2003)
    9. Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins. (PubMed id 14519844)1, 2 Martin-Serrano J.... Bieniasz P.D. (2003)
    10. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11267 HGNC: 17028 AceView: EAP30 Ensembl:ENSG00000159210 euGenes: HUgn11267
    ECgene: SNF8 Kegg: 11267 H-InvDB: SNF8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SNF8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SNF8 gene:
    Search GeneIP for patents involving SNF8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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