Property Summary

NCBI Gene PubMed Count 124
Grant Count 46
R01 Count 15
Funding $13,481,106.06
PubMed Score 1151.93
PubTator Score 142.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
psoriasis -1.400 0.000
osteosarcoma -4.464 0.000
posterior fossa group B ependymoma 1.800 0.000
cystic fibrosis 1.726 0.000
tuberculosis -1.400 0.001
interstitial cystitis 1.100 0.004
pilocytic astrocytoma 1.100 0.000
nasopharyngeal carcinoma -2.000 0.000
lung carcinoma -1.200 0.000
ulcerative colitis -1.400 0.007
pituitary cancer 2.000 0.000
chronic rhinosinusitis -1.814 0.011

Gene RIF (127)

PMID Text
27023905 mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss.
26607009 Functional activity of L-carnitine transporters in human airway epithelial cells.
26329403 A lack of association between the SLC22A4 gene polymorphism rs3792876 and susceptibility to autoimmune thyroid diseases in a Chinese Han population.
26003890 Functional expression of OCTN1 was confirmed in LPS-stimulated human macrophage-like cell line, THP-1.
25937167 These data reveal a role of OCTN1 in transporting acetylcholine and choline in HeLa cells.
25707686 SLC22A4 was associated with joint erosion in not-very-longstanding RA, although RA susceptibility association was weak and its clinical significance was uncertain.
25490951 Report functional/molecular effects of mercury compounds on the human OCTN1 cation transporter: C50 and C136 are the targets for potent inhibition.
24972750 This meta-analysis demonstrates that the SLC22A4 F1 polymorphism is associated with susceptibility to RA in East Asians, but not in Europeans.
24850141 Single nucleotide polymorphisms in SLC22A4 gene is associated with inborn errors of metabolism.
24599653 SLC22A4 gene polymorphisms played important roles in the etiology of rheumatoid arthritis in the Chinese population.
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AA Sequence

MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSSAWRNNSVPLR      1 - 70
LRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTVVTEWNLVCEDNW     71 - 140
KVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQTGFSFLQIFSISWEMFTVLFVIVGMGQISN    141 - 210
YVVAFILGTEILGKSVRIIFSTLGVCTFFAVGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPES    211 - 280
PRWLISQRRFREAEDIIQKAAKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWM    281 - 350
LTSVGYFALSLDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPV    351 - 420
DYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVYLGAYNRMLPY    421 - 490
IVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMETEENPKVLITAF             491 - 551
//

Text Mined References (125)

PMID Year Title
27023905 2016 A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
26607009 2016 Functional activity of L-carnitine transporters in human airway epithelial cells.
26329403 2015 Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population.
26003890 2015 Organic cation transporter Octn1-mediated uptake of food-derived antioxidant ergothioneine into infiltrating macrophages during intestinal inflammation in mice.
25937167 2015 Immuno-detection of OCTN1 (SLC22A4) in HeLa cells and characterization of transport function.
25707686 2015 Association of joint erosion with SLC22A4 gene polymorphisms inconsistently associated with rheumatoid arthritis susceptibility.
25490951 2015 Functional and molecular effects of mercury compounds on the human OCTN1 cation transporter: C50 and C136 are the targets for potent inhibition.
24972750 2015 Meta-analysis of SLC22A4 and RUNX1 polymorphisms : Associations with rheumatoid arthritis susceptibility.
24850141 2014 Metabolic heritability at birth: implications for chronic disease research.
24824216 2014 Genome-wide interaction studies reveal sex-specific asthma risk alleles.
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