Property Summary

NCBI Gene PubMed Count 37
Grant Count 10
R01 Count 8
Funding $929,340.17
PubMed Score 46.19
PubTator Score 26.24

Knowledge Summary

Patent

No data available

Expression

Gene RIF (16)

PMID Text
25714577 Data from 4 consanguineous families in Saudi Arabia suggest SKIV2L mutations in tricho-hepato-enteric syndrome can include deletions (c.3559_3579del, p.1187_1193del; 4 subjects) and nonsense mutation (c.C4102T, p.Q1368X; 1 subject). [CASE REPORT]
24865191 A SKIV2L variant was associated with protection against exudative age-related macular degeneration regardless of subtypes in the Japanese population.
23679950 Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease.
23260260 SKIV2L is a likely causal gene for neovascular AMD, conferring a significant protective effect independent of CFH and HTRA1.
22444670 The results showed that mutations in genes encoding SKIV2L cause trichohepatoenteric syndrome, establishing a link between defects of the human exosome complex and a Mendelian disease.
20861866 A protective effect was observed at rs429608, an intronic SNP in SKIV2L.
20861866 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20587610 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MMETERLVLPPPDPLDLPLRAVELGCTGHWELLNLPGAPESSLPHGLPPCAPDLQQEAEQLFLSSPAWLP      1 - 70
LHGVEHSARKWQRKTDPWSLLAVLGAPVPSDLQAQRHPTTGQILGYKEVLLENTNLSATTSLSLRRPPGP     71 - 140
ASQSLWGNPTQYPFWPGGMDEPTITDLNTREEAEEEIDFEKDLLTIPPGFKKGMDFAPKDCPTPAPGLLS    141 - 210
LSCMLEPLDLGGGDEDENEAVGQPGGPRGDTVSASPCSAPLARASSLEDLVLKEASTAVSTPEAPEPPSQ    211 - 280
EQWAIPVDATSPVGDFYRLIPQPAFQWAFEPDVFQKQAILHLERHDSVFVAAHTSAGKTVVAEYAIALAQ    281 - 350
KHMTRTIYTSPIKALSNQKFRDFRNTFGDVGLLTGDVQLHPEASCLIMTTEILRSMLYSGSDVIRDLEWV    351 - 420
IFDEVHYINDVERGVVWEEVLIMLPDHVSIILLSATVPNALEFADWIGRLKRRQIYVISTVTRPVPLEHY    421 - 490
LFTGNSSKTQGELFLLLDSRGAFHTKGYYAAVEAKKERMSKHAQTFGAKQPTHQGGPAQDRGVYLSLLAS    491 - 560
LRTRAQLPVVVFTFSRGRCDEQASGLTSLDLTTSSEKSEIHLFLQRCLARLRGSDRQLPQVLHMSELLNR    561 - 630
GLGVHHSGILPILKEIVEMLFSRGLVKVLFATETFAMGVNMPARTVVFDSMRKHDGSTFRDLLPGEYVQM    631 - 700
AGRAGRRGLDPTGTVILLCKGRVPEMADLHRMMMGKPSQLQSQFRLTYTMILNLLRVDALRVEDMMKRSF    701 - 770
SEFPSRKDSKAHEQALAELTKRLGALEEPDMTGQLVDLPEYYSWGEELTETQHMIQRRIMESVNGLKSLS    771 - 840
AGRVVVVKNQEHHNALGVILQVSSNSTSRVFTTLVLCDKPLSQDPQDRGPATAEVPYPDDLVGFKLFLPE    841 - 910
GPCDHTVVKLQPGDMAAITTKVLRVNGEKILEDFSKRQQPKFKKDPPLAAVTTAVQELLRLAQAHPAGPP    911 - 980
TLDPVNDLQLKDMSVVEGGLRARKLEELIQGAQCVHSPRFPAQYLKLRERMQIQKEMERLRFLLSDQSLL    981 - 1050
LLPEYHQRVEVLRTLGYVDEAGTVKLAGRVACAMSSHELLLTELMFDNALSTLRPEEIAALLSGLVCQSP   1051 - 1120
GDAGDQLPNTLKQGIERVRAVAKRIGEVQVACGLNQTVEEFVGELNFGLVEVVYEWARGMPFSELAGLSG   1121 - 1190
TPEGLVVRCIQRLAEMCRSLRGAARLVGEPVLGAKMETAATLLRRDIVFAASLYTQ                 1191 - 1246
//

Text Mined References (49)

PMID Year Title
25714577 2015 Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.
24865191 2014 Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23679950 2013 A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23455636 2013 Seven new loci associated with age-related macular degeneration.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
More...