Property Summary

NCBI Gene PubMed Count 147
Grant Count 38
R01 Count 28
Funding $3,836,006.83
PubMed Score 260.59
PubTator Score 232.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -2.000 0.000
psoriasis -1.800 0.000
osteosarcoma -1.659 0.000
colon cancer -1.600 0.000
active Crohn's disease -1.156 0.042
ulcerative colitis -2.900 0.000
interstitial cystitis -1.900 0.000

Gene RIF (131)

PMID Text
26607009 Functional activity of L-carnitine transporters in human airway epithelial cells.
26370461 The results of the current study demonstrated that -207C>G polymorphism of the SLC22A5 gene is not associated with male infertility.
26252091 c.760C>T (p.R254X) mutation of the SLC22A5 gene is associated with the primary carnitine deficiency.
25299939 Human OCTN2 expression is directly regulated by PPAR-alpha.
25132046 Nine novel SLC22A5 gene mutations were identified and characterized in Chinese patients with Systemic primary carnitine deficiency CDSP. The R254X mutation was the most frequent, and it could likely be an ethnic founder mutation.
25119904 Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency.
24146874 promoter methylation is responsible for epigenetic down-regulation of OCTN2 in HepG2 and LS174T cells.
23877104 OCTN2 is involved in L-carnitine transport at the human BBB.
23379544 A novel in-frame deletion (p.F23del), and a novel nonsense mutation (p.Q180X) result in primary carnitine deficiency.
23127916 Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy
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AA Sequence

MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLR      1 - 70
LRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDW     71 - 140
KAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISN    141 - 210
YVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPES    211 - 280
PRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIML    281 - 350
WMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLV    351 - 420
PPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFL    421 - 490
PYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF       491 - 557
//

Text Mined References (156)

PMID Year Title
26607009 2016 Functional activity of L-carnitine transporters in human airway epithelial cells.
26370461 2015 Organic cation/carnitine transporter OCTN2 (SLC22A5) -207C>G (rs2631367) polymorphism is not associated with male infertility.
26252091 2015 [Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency].
25857234 2015 Memantine transport by a proton-coupled organic cation antiporter in hCMEC/D3 cells, an in vitro human blood-brain barrier model.
25827849 2015 Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
25763512 2015 Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
25299939 2014 Transcriptional regulation of the human, porcine and bovine OCTN2 gene by PPAR? via a conserved PPRE located in intron 1.
25132046 2014 Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
25119904 2014 [Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
25075794 2014 Luteolin potentiates the sensitivity of colorectal cancer cell lines to oxaliplatin through the PPAR?/OCTN2 pathway.
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