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Aliases for SKIV2L Gene

Aliases for SKIV2L Gene

  • Ski2 Like RNA Helicase 2 3 5
  • SKI2 Homolog, Superkiller Viralicidic Activity 2-Like 2 3
  • Helicase-Like Protein 3 4
  • SKIV2 3 4
  • DDX13 3 4
  • SKI2W 3 4
  • SKI2 3 4
  • HLP 3 4
  • Superkiller Viralicidic Activity 2 (S. Cerevisiae Homolog)-Like 2
  • Superkiller Viralicidic Activity 2-Like (S. Cerevisiae) 2
  • Superkiller Viralicidic Activity 2-Like 3
  • Helicase SKI2W 3
  • EC 3.6.4.- 4
  • EC 3.6.1 56
  • SKIV2L1 3
  • THES2 3
  • 170A 3
  • W 4

External Ids for SKIV2L Gene

Previous HGNC Symbols for SKIV2L Gene

  • SKIV2

Previous GeneCards Identifiers for SKIV2L Gene

  • GC06P031988
  • GC06P031697
  • GC06P032030
  • GC06P032034
  • GC06P031926
  • GC06P031713

Summaries for SKIV2L Gene

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 (Ski2 Like RNA Helicase) is a Protein Coding gene. Diseases associated with SKIV2L include Trichohepatoenteric Syndrome 2 and Trichohepatoenteric Syndrome 1. Among its related pathways are Gene Expression and Chaperonin-mediated protein folding. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is MTREX.

UniProtKB/Swiss-Prot for SKIV2L Gene

  • 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

Additional gene information for SKIV2L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SKIV2L Gene

Genomics for SKIV2L Gene

GeneHancer (GH) Regulatory Elements for SKIV2L Gene

Promoters and enhancers for SKIV2L Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I031957 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 585.2 +0.4 370 2.7 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D RCOR2 SKIV2L NELFE HLA-C STK19B HLA-DRB5 HLA-DQB2 LY6G5B STK19
GH06I031733 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 68.8 -221.3 -221349 8.5 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 MSH5 CLIC1 DDX39B LY6G5B ATF6B LSM2 CSNK2B SKIV2L GPANK1 BAG6
GH06I031969 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 73.5 +12.8 12836 4.9 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 DXO STK19 SKIV2L DDX39B BRD2 ATF6B LY6G5B C4A NFKBIL1 LSM2
GH06I031813 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 64 -132.9 -132928 25.6 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C6orf48 HSPA1B HSPA1A HSPA1L GC06P032039 ATF6B DDX39B LY6G5B LSM2 BAG6
GH06I031538 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 70.5 -417.7 -417665 4.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 DDX39B DDX39B-AS1 GC06M031542 GC06M031543 GC06M031550 GC06M031555 GC06M031573 GC06M031965 GC06M031970 PIR32498
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SKIV2L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SKIV2L gene promoter:

Genomic Locations for SKIV2L Gene

Genomic Locations for SKIV2L Gene
10,952 bases
Plus strand

Genomic View for SKIV2L Gene

Genes around SKIV2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SKIV2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SKIV2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for SKIV2L Gene

  • Protein details for SKIV2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Helicase SKI2W
    Protein Accession:
    Secondary Accessions:
    • O15005
    • Q12902
    • Q15476
    • Q5ST66

    Protein attributes for SKIV2L Gene

    1246 amino acids
    Molecular mass:
    137755 Da
    Quaternary structure:
    • Component of the SKI complex which consists of WDR61, SKIV2L and TTC37.
    • Sequence=AAB52523.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SKIV2L Gene

Selected DME Specific Peptides for SKIV2L Gene


Post-translational modifications for SKIV2L Gene

  • Ubiquitination at isoforms=84, isoforms=316, posLast=363363, isoforms=516, posLast=539539, isoforms=720, posLast=736736, isoforms=791, posLast=837837, posLast=991991, isoforms=1004, posLast=10261026, posLast=10751075, and posLast=12251225

Other Protein References for SKIV2L Gene

Domains & Families for SKIV2L Gene

Gene Families for SKIV2L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the helicase family. SKI2 subfamily.
  • Belongs to the helicase family. SKI2 subfamily.
genes like me logo Genes that share domains with SKIV2L: view

Function for SKIV2L Gene

Molecular function for SKIV2L Gene

GENATLAS Biochemistry:
superkiller viralicidic activity 2, (S cerevisiae homolog)-like 2,helicase recognized by monoclonal antibody 170A1 with homology to human KIAA052,(superfamily II)
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for SKIV2L Gene

Phenotypes From GWAS Catalog for SKIV2L Gene

Gene Ontology (GO) - Molecular Function for SKIV2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0003724 RNA helicase activity IEA --
GO:0004004 ATP-dependent RNA helicase activity TAS 7610041
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with SKIV2L: view
genes like me logo Genes that share phenotypes with SKIV2L: view

Human Phenotype Ontology for SKIV2L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SKIV2L Gene

MGI Knock Outs for SKIV2L:

Animal Model Products

CRISPR Products

miRNA for SKIV2L Gene

miRTarBase miRNAs that target SKIV2L

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for SKIV2L Gene

Localization for SKIV2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SKIV2L Gene

Nucleus. Cytoplasm.

Subcellular locations from

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 SKIV2L gene
Compartment Confidence
cytosol 5
nucleus 4
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SKIV2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0055087 Ski complex IDA 16024656
genes like me logo Genes that share ontologies with SKIV2L: view

Pathways & Interactions for SKIV2L Gene

genes like me logo Genes that share pathways with SKIV2L: view

Gene Ontology (GO) - Biological Process for SKIV2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006401 RNA catabolic process IEA --
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS --
GO:0070478 nuclear-transcribed mRNA catabolic process, 3-5 exonucleolytic nonsense-mediated decay IBA --
genes like me logo Genes that share ontologies with SKIV2L: view

No data available for SIGNOR curated interactions for SKIV2L Gene

Drugs & Compounds for SKIV2L Gene

(1) Additional Compounds for SKIV2L Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SKIV2L: view

Transcripts for SKIV2L Gene

Unigene Clusters for SKIV2L Gene

Superkiller viralicidic activity 2-like (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SKIV2L Gene

No ASD Table

Relevant External Links for SKIV2L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SKIV2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SKIV2L Gene

Protein differential expression in normal tissues from HIPED for SKIV2L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.4), Lymph node (9.3), and Salivary gland (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SKIV2L Gene

Protein tissue co-expression partners for SKIV2L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SKIV2L Gene:


SOURCE GeneReport for Unigene cluster for SKIV2L Gene:


Evidence on tissue expression from TISSUES for SKIV2L Gene

  • Liver(4.4)
  • Blood(4.2)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SKIV2L Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • outer ear
  • pharynx
  • salivary gland
  • skull
  • breast
  • esophagus
  • heart
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • placenta
  • rectum
  • testicle
  • uterus
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SKIV2L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SKIV2L Gene

Orthologs for SKIV2L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SKIV2L Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SKIV2L 33 34
  • 99.36 (n)
(Bos Taurus)
Mammalia SKIV2L 33 34
  • 90.05 (n)
(Canis familiaris)
Mammalia SKIV2L 33 34
  • 89.7 (n)
(Monodelphis domestica)
Mammalia SKIV2L 34
  • 88 (a)
(Mus musculus)
Mammalia Skiv2l 33 16 34
  • 87.53 (n)
(Rattus norvegicus)
Mammalia Skiv2l 33
  • 87.12 (n)
(Ornithorhynchus anatinus)
Mammalia SKIV2L 34
  • 86 (a)
(Gallus gallus)
Aves SKIV2L 34
  • 52 (a)
(Anolis carolinensis)
Reptilia SKIV2L 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia skiv2l 33
  • 60.57 (n)
(Danio rerio)
Actinopterygii skiv2l 33 34
  • 62.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003182 33
  • 54.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta tst 35 33 34
  • 51.85 (n)
(Caenorhabditis elegans)
Secernentea skih-2 33 34
  • 47.45 (n)
F01G4.3 35
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER067C 33
  • 48.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SKI2 33 34 36
  • 47.76 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G46960 33
  • 50.42 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01857 33
  • 49.99 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC550.03c 33
  • 47.86 (n)
Species where no ortholog for SKIV2L 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SKIV2L Gene

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

Paralogs for SKIV2L Gene

Paralogs for SKIV2L Gene

(3) SIMAP similar genes for SKIV2L Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SKIV2L: view

Variants for SKIV2L Gene

Sequence variations from dbSNP and Humsavar for SKIV2L Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1050394803 uncertain-significance, Trichohepatoenteric syndrome 31,959,150(+) T/C/G 5_prime_UTR_variant, non_coding_transcript_variant
rs1050729511 uncertain-significance, Trichohepatoenteric syndrome 31,958,920(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs106287 likely-benign, Trichohepatoenteric syndrome 31,967,973(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs114974766 uncertain-significance, Trichohepatoenteric syndrome 31,966,697(+) A/G intron_variant
rs11541400 uncertain-significance, Trichohepatoenteric syndrome 31,960,262(+) C/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SKIV2L Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv284 CNV deletion 15895083
nsv428141 CNV gain+loss 18775914
nsv5247 CNV deletion 18451855
nsv830628 CNV loss 17160897

Variation tolerance for SKIV2L Gene

Residual Variation Intolerance Score: 7.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.35; 90.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SKIV2L Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKIV2L Gene

Disorders for SKIV2L Gene

MalaCards: The human disease database

(9) MalaCards diseases for SKIV2L Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichohepatoenteric syndrome 2
  • thes2
trichohepatoenteric syndrome 1
  • thes1
diarrhea 2, with microvillus atrophy
  • diar2
retinitis pigmentosa 33
  • rp33
  • diarrhea of presumed infectious origin
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:22444670}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SKIV2L

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SKIV2L: view

No data available for Genatlas for SKIV2L Gene

Publications for SKIV2L Gene

  1. Identification and characterization of a human cDNA homologous to yeast SKI2. (PMID: 7759100) Lee SG … Song K (Genomics 1995) 2 3 4 22 58
  2. Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology. (PMID: 19556007) Kondo N … Negi A (Ophthalmology 2009) 3 22 44 58
  3. 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. (PMID: 9799600) Yang Z … Yu CY (Genomics 1998) 2 3 22 58
  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. (PMID: 7610041) Dangel AW … Yu CY (Nucleic acids research 1995) 3 4 22 58
  5. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. (PMID: 22444670) Fabre A … Badens C (American journal of human genetics 2012) 3 4 58

Products for SKIV2L Gene

Sources for SKIV2L Gene

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