Property Summary

NCBI Gene PubMed Count 17
PubMed Score 19.73
PubTator Score 17.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
Multiple myeloma 1.571 9.4e-05
psoriasis 1.600 4.8e-04
glioblastoma 2.100 1.3e-06
atypical teratoid / rhabdoid tumor 1.900 7.7e-08
medulloblastoma, large-cell 1.900 1.4e-06
primitive neuroectodermal tumor 1.200 5.2e-04
pancreatic ductal adenocarcinoma liver m... 1.315 4.0e-02
non-small cell lung cancer 1.321 4.5e-16
intraductal papillary-mucinous carcinoma... 1.100 4.0e-04
lung cancer 1.100 1.3e-02
pediatric high grade glioma 1.500 6.5e-06
pilocytic astrocytoma 1.100 3.2e-04
lung adenocarcinoma 1.500 9.4e-12
Breast cancer 1.900 7.4e-17
breast carcinoma 1.400 7.6e-15
invasive ductal carcinoma 1.800 1.5e-03
ovarian cancer 1.800 3.8e-07
chronic rhinosinusitis 1.058 6.8e-03

Gene RIF (5)

PMID Text
26791833 These results strongly implicate a potential role for SLC52A2 in riboflavin uptake by milk-producing MECs, a critical step in the transfer of riboflavin into breast milk.
24616084 Mutations in SLC52A2 result in a recognizable phenotype distinct from Brown-Vialetto-Van-Laere syndrome.
24253200 We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression
24139842 data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative.
23506902 summary of recent findings on the cloning, nomenclature, functional characterization and genetic diseases of RFVT1/SLC52A1, RFVT2/SLC52A2 and RFVT3/SLC52A3 [review]

AA Sequence

MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRR      1 - 70
LAPGKDEQVPIRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLP     71 - 140
PRFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAA    141 - 210
FQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLL    211 - 280
GLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLGGLSLLGVFCG    281 - 350
GYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGA    351 - 420
VAMFPPTSIYHVFHSRKDCADPCDS                                                 421 - 445
//

Text Mined References (18)

PMID Year Title
27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
26791833 2016 Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation.
25416956 2014 A proteome-scale map of the human interactome network.
24616084 2014 Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
24139842 2013 Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
23506902 Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.
22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
20463145 2010 Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.
19307586 2009 Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12740431 2003 Identification of receptors for pig endogenous retrovirus.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12044878 2002 Identification of G protein-coupled receptor genes from the human genome sequence.