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

SKIV2L Gene

protein-coding   GIFtS: 62
GCID: GC06P031926

Superkiller Viralicidic Activity 2-Like (S. Cerevisiae)

(Previous name: superkiller viralicidic activity 2 (S. cerevisiae homolog)-like)
(Previous symbol: SKIV2)
Microbiology & Infectious Diseases Congress
  See related diseases
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
Superkiller Viralicidic Activity 2-Like (S. Cerevisiae)1 2     170A2
SKIV21 2 3     THES22
SKI2W2 3 5     Helicase SKI2W2
Helicase-Like Protein2 3     EC 3.6.4.-3
DDX132 3     Ski23
HLP2 3     W3
SKI22 5     EC 3.6.18
Superkiller Viralicidic Activity 2 (S. Cerevisiae Homolog)-Like1     

External Ids:    HGNC: 108981   Entrez Gene: 64992   Ensembl: ENSG000002043517   OMIM: 6004785   UniProtKB: Q154773   

Export aliases for SKIV2L gene to outside databases

Previous GC identifers: GC06P031988 GC06P031697 GC06P032030 GC06P032034 GC06P031713


(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 SKIV2L Gene:
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They
are implicated in a number of cellular processes involving alteration of RNA secondary structure such as
translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their
distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis,
and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2
and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is
located in the class III region of the major histocompatibility complex. (provided by RefSeq, Jul 2008)

GeneCards Summary for SKIV2L Gene: 
SKIV2L (superkiller viralicidic activity 2-like (S. cerevisiae)) is a protein-coding gene. Diseases associated with SKIV2L include syndromic diarrhea, and trichohepatoenteric syndrome 2, and among its related super-pathways are Chaperonin-mediated protein folding and Deadenylation-dependent mRNA decay. GO annotations related to this gene include RNA binding and ATP-dependent RNA helicase activity.

UniProtKB/Swiss-Prot: SKIV2_HUMAN, Q15477
Function: Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in
exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1
complex (PAF1C)

Gene Wiki entry for SKIV2L 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_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167247.1  NT_167248.1  NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SKIV2L gene promoter:
         E2F-3a   E2F-4   RFX1   E2F-5   STAT1   AP-1   Pax-5   E2F-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SKIV2L promoter sequence
   Search SABiosciences Chromatin IP Primers for SKIV2L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SKIV2L


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

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21

SKIV2L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SKIV2L gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031926:  view genomic region     (about GC identifiers)

Start:
31,926,581 bp from pter      End:
31,937,532 bp from pter
Size:
10,952 bases      Orientation:
plus strand

5 alternative locations:
Chr6+,NT_167247 3,306,425-3,317,376      Chr6+,NT_167248 3,220,370-3,231,321      Chr6+,NT_167245 3,212,164-3,223,115     
Chr6+,NT_167249 3,259,291-3,270,242      Chr6+,NT_113891.2 3,436,337-3,447,288     

(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: SKIV2_HUMAN, Q15477 (See protein sequence)
Recommended Name: Helicase SKI2W  
Size: 1246 amino acids; 137755 Da
Subunit: Component of the SKI complex which consists of WDR61, SKIV2L and TTC37
Subcellular location: Nucleus (Probable). Cytoplasm (Probable)
Sequence caution: Sequence=AAB52523.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: O15005 Q12902 Q15476 Q5ST66

Explore the universe of human proteins at neXtProt for SKIV2L: NX_Q15477

Explore proteomics data for SKIV2L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15477

  • 4 DME Specific Peptides for SKIV2L (Q15477)
     GLLTGDV  LFATETF  RDIVFAASLY  MTTEILRSMLY 

    SKIV2L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SKIV2L Protein Expression
    REFSEQ proteins: NP_008860.4  
    ENSEMBL proteins: 
     ENSP00000364543   ENSP00000419905   ENSP00000420470   ENSP00000420332   ENSP00000417586  
     ENSP00000442645  
    Reactome Protein details: Q15477
    Human Recombinant Protein Products for SKIV2L: 
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    Novus Biologicals SKIV2L Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SKIV2L 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0055087Ski complex IDA16024656

    SKIV2L for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for SKIV2L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR012961 DSH_C
     IPR027417 P-loop_NTPase
     IPR025696 rRNA_proc-arch_dom
     IPR016438 RNA_helicase_ATP-dep_SK12/DOB1

    Graphical View of Domain Structure for InterPro Entry Q15477

    ProtoNet protein and cluster: Q15477

    1 Blocks protein domain: IPB012961 DSH

    UniProtKB/Swiss-Prot: SKIV2_HUMAN, Q15477
    Similarity: Belongs to the helicase family. SKI2 subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    SKIV2L 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: SKIV2_HUMAN, Q15477
    Function: Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in
    exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1
    complex (PAF1C)

         Genatlas biochemistry entry for SKIV2L:
    superkiller viralicidic activity 2, (S cerevisiae homolog)-like 2,helicase recognized by monoclonal antibody 170A1
    with homology to human KIAA052,(superfamily II)

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0004004ATP-dependent RNA helicase activity TAS7610041
    GO:0004386helicase activity ----
    GO:0005524ATP binding IEA--
         
    SKIV2L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SKIV2L:
     Decreased cilium length after  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Skiv2l):
     mortality/aging 

    SKIV2L for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SKIV2L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SKIV2L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SKIV2L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SKIV2L 

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SKIV2L


    (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 SKIV2L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Chaperonin-mediated protein folding
    Chaperonin-mediated protein folding0.91
    Association of TriC/CCT with target proteins during biosynthesis0.60
    Protein folding0.91
    2Deadenylation-dependent mRNA decay
    RNA degradation0.49
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SKIV2L
        Association of TriC/CCT with target proteins during biosynthesis
    Chaperonin-mediated protein folding
    Metabolism of proteins
    Protein folding


    1         Kegg Pathway  (Kegg details for SKIV2L):
        RNA degradation


    SKIV2L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SKIV2L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/89 Interacting proteins for SKIV2L (Q154773 ENSP000003645434) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTC37Q6PGP73, ENSP000003515964I2D: score=5 STRING: ENSP00000351596
    ENSG00000258947Q135093I2D: score=1 
    GALNT13Q8IUC83, ENSP000003765704I2D: score=1 STRING: ENSP00000376570
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    TUBB3Q135093I2D: score=1 
    About this table

    (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

    SKIV2L for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SKIV2L (SKIV2)

    1 Novoseek inferred chemical compound relationship for SKIV2L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 28.5 2 7610041 (1)

    Search CenterWatch for drugs/clinical trials and news about SKIV2L / SKIV2

    (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 SKIV2L gene: 
    NM_006929.4  

    Unigene Cluster for SKIV2L:

    Superkiller viralicidic activity 2-like (S. cerevisiae)
    Hs.89864  [show with all ESTs]
    Unigene Representative Sequence: AB209605
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375394(uc003nyn.1 uc011dou.1 uc011dov.1) ENST00000488648
    ENST00000465703 ENST00000461073 ENST00000474839 ENST00000492900 ENST00000466290
    ENST00000461915 ENST00000494058 ENST00000484835 ENST00000483553 ENST00000471818
    ENST00000485349 ENST00000491994 ENST00000470453 ENST00000544581
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SKIV2L
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    Additional mRNA sequence: 

    AB209605.1 AK293881.1 AK297230.1 AK299967.1 AK303302.1 AK303448.1 BC015758.1 U09877.1 
    Z48796.1 

    13 DOTS entries:

    DT.444954  DT.100783580  DT.95109066  DT.100783579  DT.447275  DT.102841050  DT.95109064  DT.95109065 
    DT.86835921  DT.100783578  DT.100783562  DT.121361572  DT.95216627 

    24/211 AceView cDNA sequences (see all 211):

    CA313317 CD370481 BQ029493 BU728638 BQ066748 AI079283 CR616648 CA454279 
    BQ447206 BQ102467 BU855048 BU752403 CB241655 BQ952076 BM479298 AA229252 
    CD673897 CA488076 AW451318 BQ427889 BM561498 BE675785 BP345298 BM923777 

    GeneLoc Exon Structure


    (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

    SKIV2L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGATAAAAC
    SKIV2L Expression
    About this image


    See SKIV2L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SKIV2L

    SOURCE GeneReport for Unigene cluster: Hs.89864
        SABiosciences Custom PCR Arrays for SKIV2L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SKIV2L

    (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 SKIV2L gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Skiv2l1 , 5 superkiller viralicidic activity 2-like (S. cerevisiae)1, 5 87.53(n)1
    93.48(a)1
      17 (18.39 cM)5
    1080771  NM_021337.21  NP_067312.21 
     348392285 
    chicken
    (Gallus gallus)
    Aves SKIV2L6
    superkiller viralicidic activity 2-like (S. cerevi...
    52(a)
    1 ↔ 1
    26(486602-496399)
    lizard
    (Anolis carolinensis)
    Reptilia SKIV2L6
    superkiller viralicidic activity 2-like (S. cerevi...
    66(a)
    1 ↔ 1
    2(194158692-194195623)
    zebrafish
    (Danio rerio)
    Actinopterygii skiv2l1 superkiller viralicidic activity 2 (S. cerevisiae homolog)-like 62.32(n)
    62.71(a)
      559653  NM_001044901.1  NP_001038366.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tst1 , 3 helicase3
    twister1
    44(a)3
    51.7(n)1
    45.88(a)1
      95B13
    428131  NM_079741.21  NP_524465.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F01G4.33
    skih-21
    antiviral protein SKI2 like3
    Protein SKIH-21
    40(a)3
    47.43(n)1
    44.08(a)1
      IV(11135848-11142451)3
    1780171  NM_069683.31  NP_502084.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SKI2(YLR398C)4
    SKI21
    Ski complex component and putative RNA helicase, mediates more4
    Ski2p1
    47.51(n)1
    42.61(a)1
      12(919019-915156)4
    8511141, 4  NP_013502.31  NP_013502.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G469601 antiviral helicase SKI2 50.05(n)
    45.69(a)
      823849  NM_114563.6  NP_190280.5 


    ENSEMBL Gene Tree for SKIV2L (if available)
    TreeFam Gene Tree for SKIV2L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SKIV2L gene
    3 SIMAP similar genes for SKIV2L using alignment to 8 protein entries:     SKIV2_HUMAN (see all proteins):
    DDX13    SKI2W    SKIV2L2

    SKIV2L for paralogs           About GeneDecksing



    (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

    10/411 SNPs in SKIV2L are shown (see all 411)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359444
    A breast cancer sample4--see VAR_0359442 L V mis40--------
    VAR_0359454
    A colorectal cancer sample4--see VAR_0359452 M I mis40--------
    rs1851476901,2
    C,F--31841952(+) AAGGGG/CAAGAG 1 -- us2k11Minor allele frequency- C:0.00EU 1323
    rs2020909201,2
    C--31841978(+) AGCCAT/CGATGA 1 -- us2k11Minor allele frequency- C:0.00EU 1323
    rs1428245361,2
    C--31842114(+) CTGGGA/TACAAG 1 -- us2k11Minor allele frequency- T:0.00EU 1323
    rs1451302481,2
    --31842128(+) GAGAAA/GAGAGA 1 -- us2k10--------
    rs92677851,2
    C,F,H--31842190(+) CATCAC/TTCCAG 1 -- us2k115Minor allele frequency- T:0.04NS EA NA WA 2130
    rs1894015611,2
    --31842200(+) GGGACC/TGTCTT 1 -- us2k10--------
    rs4035691,2
    C,F,O,A,H--31842201(-) AAAGAC/TGGTCC 1 -- us2k125Minor allele frequency- A:0.00EA NA NS WA CSA 3960
    rs1813745621,2
    C--31842306(+) ACCACA/GGAACC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SKIV2L (31926581 - 31937532 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for SKIV2L (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv6606n71CNV Loss21882294
    dgv6604n71CNV Loss21882294
    nsv5247CNV Loss18451855
    nsv884514CNV Loss21882294
    nsv284CNV Loss15895083
    dgv6605n71CNV Loss21882294
    nsv830628CNV Loss17160897
    nsv884512CNV Gain21882294
    nsv428141CNV Gain+Loss18775914
    dgv1928e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): SKIV2L
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SKIV2L
    DNA2.0 Custom Variant and Variant Library Synthesis for SKIV2L

    (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: 600478    OMIM disorders: --

    UniProtKB/Swiss-Prot: SKIV2_HUMAN, Q15477
  • Trichohepatoenteric syndrome 2 (THES2) [MIM:614602]: A syndrome characterized by intrauterine growth
    retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism,
    immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the
    poor prognosis of affected patients. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 11 diseases for SKIV2L:    About MalaCards
    syndromic diarrhea    trichohepatoenteric syndrome 2    age related macular degeneration    kawasaki disease
    macular degeneration    diarrhea    choroiditis    systemic lupus erythematosus
    lupus erythematosus    tuberculosis    hepatitis


    SKIV2L for disorders           About GeneDecksing

    Genetic Association Database (GAD): SKIV2L
    Human Genome Epidemiology (HuGE) Navigator: SKIV2L (11 documents)

    Export disorders for SKIV2L 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 SKIV2L gene, integrated from 9 sources (see all 60):
    (articles sorted by number of sources associating them with SKIV2L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a human cDNA homologous to yeast SKI2. (PubMed id 7759100)1, 2, 3, 9 Lee S.-G.... Song K. (1995)
    2. Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z- RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA. (PubMed id 9799600)1, 3, 9 Yang Z.... Yu C.Y. (1998)
    3. Role of RDBP and SKIV2L variants in the major histoco mpatibility complex class III region in polypoidal choroidal vasculopathy etiol ogy. (PubMed id 19556007)1, 4, 9 Kondo N....Negi A. (2009)
    4. Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family. (PubMed id 7610041)1, 2, 9 Dangel A.W.... Yu C.Y. (1995)
    5. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. (PubMed id 22444670)1, 2 Fabre A.... Badens C. (2012)
    6. Genetic variants near TIMP3 and high-density lipoprot ein-associated loci influence susceptibility to age-related macular degeneratio n. (PubMed id 20385819)1, 4 Chen W....Swaroop A. (2010)
    7. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Tevfik Dorak M. (2010)
    8. Genome-wide association identifies SKIV2L and MYRIP a s protective factors for age-related macular degeneration. (PubMed id 20861866)1, 4 Kopplin L.J....Iyengar S.K. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6499 HGNC: 10898 AceView: SKIV2L Ensembl:ENSG00000204351 euGenes: HUgn6499
    ECgene: SKIV2L Kegg: 6499 H-InvDB: SKIV2L

    (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 SKIV2L 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 SKIV2L gene:
    Search GeneIP for patents involving SKIV2L

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



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