SKIV2L (Ski2 like RNA helicase)

2007-04-01  

Identity

HGNC
SKIV2L
LOCATION
6p21.33
LOCUSID
6499
ALIAS
170A,DDX13,HLP,SKI2,SKI2W,SKIV2,SKIV2L1,THES2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6499
MIM: 600478
HGNC: 10898
Ensembl: ENSG00000204351

Variants:

dbSNP: 6499
ClinVar: 6499
TCGA: ENSG00000204351
COSMIC: SKIV2L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204351ENST00000375394Q15477
ENSG00000204351ENST00000375394A0A1U9X8J1
ENSG00000204351ENST00000461073B4E0B4
ENSG00000204351ENST00000474839F8WDE8
ENSG00000204351ENST00000483553H7C5N0
ENSG00000204351ENST00000491994H7C4L3
ENSG00000204351ENST00000628157F8WDE8

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
RNA degradationKEGGko03018
RNA degradationKEGGhsa03018
Ski complexKEGGhsa_M00392
Ski complexKEGGM00392
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Association of TriC/CCT with target proteins during biosynthesisREACTOMER-HSA-390471
Gene ExpressionREACTOMER-HSA-74160
Deadenylation-dependent mRNA decayREACTOMER-HSA-429914
mRNA decay by 3' to 5' exoribonucleaseREACTOMER-HSA-429958

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
295277912018Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.25
295277912018Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.25
274841322017Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis.2
274841322017Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis.2
270503102016Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.15
274317802016Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.12
270503102016Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.15
274317802016Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.12
257145772015Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.10
257145772015Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.10
248651912014Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population.5
248651912014Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population.5
232602602013Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy.19
236799502013A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.13
232602602013Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy.19

Citation

Dessen P

SKIV2L (Ski2 like RNA helicase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46858/tumors-explorer/css/lib/dataTables.bootstrap.min.css