SKIV2L (Ski2 like RNA helicase)

2007-04-01 Affiliation

Identity

HGNC

SKIV2L

LOCATION

6p21.33

LOCUSID

6499

ALIAS

170A,DDX13,HLP,SKI2,SKI2W,SKIV2,SKIV2L1,THES2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204351	ENST00000375394	Q15477
ENSG00000204351	ENST00000375394	A0A1U9X8J1
ENSG00000204351	ENST00000461073	B4E0B4
ENSG00000204351	ENST00000474839	F8WDE8
ENSG00000204351	ENST00000483553	H7C5N0
ENSG00000204351	ENST00000491994	H7C4L3
ENSG00000204351	ENST00000628157	F8WDE8

Expression (GTEx)

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

Pathway	Source	External ID
RNA degradation	KEGG	ko03018
RNA degradation	KEGG	hsa03018
Ski complex	KEGG	hsa_M00392
Ski complex	KEGG	M00392
Metabolism of proteins	REACTOME	R-HSA-392499
Protein folding	REACTOME	R-HSA-391251
Chaperonin-mediated protein folding	REACTOME	R-HSA-390466
Association of TriC/CCT with target proteins during biosynthesis	REACTOME	R-HSA-390471
Gene Expression	REACTOME	R-HSA-74160
Deadenylation-dependent mRNA decay	REACTOME	R-HSA-429914
mRNA decay by 3' to 5' exoribonuclease	REACTOME	R-HSA-429958

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
11719186	2001	AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.	347
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17997607	2007	Identification of two independent risk factors for lupus within the MHC in United Kingdom families.	53
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	51
22444670	2012	SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.	40
20861866	2010	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	29
20861866	2010	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	29
23260260	2013	Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy.	16
19556007	2009	Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology.	13
19556007	2009	Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology.	13

Citation

Dessen P

SKIV2L (Ski2 like RNA helicase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46858/skiv2l