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FLASH GENE
Symbol SKIV2L contributors: mct - updated : 11-04-2012
HGNC name superkiller viralicidic activity 2-like (S. cerevisiae)
HGNC id 10898
Corresponding disease
THES trichohepatoenteric syndrome
Location 6p21.32      Physical location : 3.212.163 - 31.937.532
Synonym name
  • DEAD/H box protein 13 in major histocompatibility class III region (see HTFAG@), recognized by monoclonal antibody 170A1 with homology to human KIAA052,(superfamily II)
    • Synonym symbol(s) DDX13, G11A, SKI2, SKI2W
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text head to head with RDBP
    STRUCTURE 10.95 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure common with RDBP
    MAPPING cloned Y linked   status confirmed
    Map see HTFAG@ ,TNXB
    Physical map
    BAT5 6p21.33 HLA-B associated transcript 5 LY6G6D 6p21.3 lymphocyte antigen 6 complex, locus G6D LY6G6E 6p21.3 lymphocyte antigen 6 complex, locus G6E LY6G6C 6p21.3 lymphocyte antigen 6 complex, locus G6C C6orf25 6p21.3 chromosome 6 open reading frame 25 DDAH2 6p21.3 dimethylarginine dimethylaminohydrolase 2 CLIC1 6p21.3 chloride intracellular channel 1 MSH5 6p21.3 mutS homolog 5 (E. coli) C6orf27 6p21.31 chromosome 6 open reading frame 27 VARS2 6p21.3 valyl-tRNA synthetase 2 LSM2 6p21.3 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) HSPA1L 6p21.3 heat shock 70kDa protein 1-like HSPA1A 6p21.3 heat shock 70kDa protein 1A HSPA1B 6p21.3 heat shock 70kDa protein 1B C6orf48 6p21.3 chromosome 6 open reading frame 48 NEU1 6p21.3 sialidase 1 (lysosomal sialidase) C6orf29 6p21.3 chromosome 6 open reading frame 29 BAT8 6p21.31 HLA-B associated transcript 8 C6orf46 6p21.31 chromosome 6 open reading frame 46 C2 6p21.3 complement component 2 BF 6p21.3 B-factor, properdin RDBP 6p21.33 RD RNA binding protein SKIV2L 6p21.3 superkiller viralicidic activity 2-like (S. cerevisiae) DOM3Z 6p21.3 dom-3 homolog Z (C. elegans) STK19 6p21.3 serine/threonine kinase 19 C4B 6p21.3 complement component 4B CYP21A2 6p21.3 cytochrome P450, family 21, subfamily A, polypeptide 2 TNXB 6p21.3 tenascin XB CREBL1 6p21.3 cAMP responsive element binding protein-like 1 FKBPL 6p21.3 FK506 binding protein like C6orf31 6p21.1 chromosome 6 open reading frame 31 PPT2 6p21.3 palmitoyl-protein thioesterase 2 EGFL8 6p21.31 EGF-like-domain, multiple 8 AGPAT1 6p21.3 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) RNF5 6p21.31 ring finger protein 5 AGER 6p21.3 advanced glycosylation end product-specific receptor PBX2 6p21.3 pre-B-cell leukemia transcription factor 2 C6orf9 6p21.3 chromosome 6 open reading frame 9 NOTCH4 6p21.3 Notch homolog 4 (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4187 - 1246 - 2000 10774746
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     stomach    
    Reproductivefemale systemuteruscervix  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • DEAD/H box (Asp-Glu-Ala-Asp/His)
  • a leucine zipper domain
  • a RGD motif
  • helicase C terminal domain
    • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae -like 2
    Homologene
    FAMILY
  • helicase family
  • ski2 subfamily
    • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • RNA helicase with RNA dependent ATPase activity
  • probably involved in the regulation of translation and RNA turnover
    • CELLULAR PROCESS protein, translation regulation
    PHYSIOLOGICAL PROCESS immunity/defense
    text
  • blocking translation of poly (A) deficient mRNAs
  • antiviral activity
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA binding
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) THES
    Susceptibility to age-related macular degeneration
    Variant & Polymorphism SNP
  • rs429608, an intronic SNP in SKIV2L is a protective factor for age-related macular degeneration
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS